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
CEACAM19_chr19_44666482_44689355	44668554	T T	TTATACAC others(30): Show TTATACACATATTATATATGTATATAATTATATAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	390	0.0026	37	c.-33 others(48): Show c.-3378_-3377insTATACACATATTATATATGTATATAATTATATAA TTA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2927		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668559	T T	TACATATT others(30): Show TACATATTATATATGTATATAATTATATAATTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01070.hp1 others(11): Show HG00280.hp1 HG00639.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp2 HG04228.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0002	a0001c0001t0002g0024 a0001c0001t0003g0044 a0001c0001t0005g0002 others(3): Show a0001c0001t0002g0024 a0001c0001t0003g0044 a0001c0001t0005g0002 a0001c0003t0002g0011 a0001c0003t0002g0027 a0001c0003t0002g0087	14	390	0.0359	37	c.-33 others(48): Show c.-3373_-3372insACATATTATATATGTATATAATTATATAATTATA TAC	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2922		chr19	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01517.hp2 HG02145.hp2 others(1): Show HG01081.hp2 HG01517.hp2 HG02145.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0017 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0017 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001	a0001c0001t0017g0153 a0001c0002t0002g0002 a0001c0003t0002g0181 others(1): Show a0001c0001t0017g0153 a0001c0002t0002g0002 a0001c0003t0002g0181 a0001c0004t0001g0152	4	194	0.0206	37	c.272 others(56): Show c.272-20400_272-20399insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF2_chr10_11012872_11341675	11197058	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAGGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0145 a0001c0001t0031g0145	1	194	0.0052	37	c.272 others(56): Show c.272-20365_272-20364insGAAAGAAAGAAAAGAAAGAAAGAAGG AAAGAAAGGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAGGAAAGAAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0064 a0001c0003t0005g0064	1	194	0.0052	37	c.272 others(56): Show c.272-20355_272-20354insAAAGAAAGAAAGAAGGAAAGAAAGGA AAGAAAGGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF5_chr19_3219661_3302076	3299550	C C	CTTTTCTT others(30): Show CTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	262	0.0038	37	c.28 others(48): Show c.2833_*2834insTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2475		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46373389	A A	AGGCAGCT others(30): Show AGGCAGCTTCACACCCAGTGCTCTGGGCGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	104	0.0096	37	c.758 others(54): Show c.7585-369_7585-333dupCCCCCGCCCCGCCCAGAGCACTGGGTGT GAAGCTGCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CENPVL3_chrX_51612020_51623912	51621690	T T	TTCTTCTT others(30): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	37	c.-28 others(48): Show c.-2818_-2817insGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGA AGA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2779		chrX	TogoVar
CEP112_chr17_65630537_66197133	65870065	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03834.hp1 HG04115.hp2 HG00280.hp2 HG03834.hp1 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0028 a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0001g0028 a0002c0001t0001g0099 a0002c0001t0001g0102	3	112	0.0268	37	c.216 others(58): Show c.2164-18032_2164-18031insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	336	0.0030	37	c.249 others(54): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP131_chr17_81184596_81227965	81210008	G G	GACGCTAA others(30): Show GACGCTAAGCGAGGATCAGACTCGCTCGGAGAAGCGGT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0250 a0005c0006t0001g0250	1	384	0.0026	37	c.178 others(52): Show c.178-987_178-986insACCGCTTCTCCGAGCGAGTCTGATCCTCGC TTAGCGT	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0026 a0004c0009t0008g0026	1	390	0.0026	37	c.-21 others(54): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP295NL_chr17_78885579_78908201	78904108	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19066.hp1 HG02647.hp2 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0002 a0006c0005t0002 a0001c0001t0002 a0006c0005t0002	a0001c0001t0002g0103 a0006c0005t0002g0099 a0001c0001t0002g0103 a0006c0005t0002g0099	2	430	0.0047	37	c.-10 others(48): Show c.-1074_-1073insCACACACACACACACACACACACACACACACACA CAC	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		908		chr17	TogoVar
CEP57L1_chr6_109090507_109179418	109125524	A A	ACATATAT others(30): Show ACATATATATATATATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0012 a0001c0001t0027	a0001c0001t0012g0220 a0001c0001t0027g0217 a0001c0001t0012g0220 a0001c0001t0027g0217	2	228	0.0088	37	c.-3- others(54): Show c.-3-19695_-3-19694insCATATATATATATATATATACACATATA TATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10			chr6	TogoVar
CEP57_chr11_95785498_95837693	95835200	A A	ATGGGTTC others(30): Show ATGGGTTCTAAATTCCGAAGACTTTCTACTCATAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	340	0.0029	37	c.39 others(48): Show c.3944_*3945insTGGGTTCTAAATTCCGAAGACTTTCTACTCATAG AGC	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding		2508		chr11	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GTGTGTGT others(30): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0050 a0004c0004t0006g0050	1	302	0.0033	37	c.232 others(56): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CERKL_chr2_181531672_181662105	181536104	G G	GAATATTA others(30): Show GAATATTATAGTATTATAGGCCAAACTGGCAAACTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0233 a0001c0001t0002g0161 a0001c0001t0002g0233	2	298	0.0067	37	c.20 others(48): Show c.2043_*2079dupTGAAGTTTGCCAGTTTGGCCTATAATACTATAAT ATT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding		567		chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01981.hp2 HG01361.hp2 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0004 a0002c0009t0004 a0002c0004t0004 a0002c0009t0004	a0002c0004t0004g0242 a0002c0009t0004g0006 a0002c0004t0004g0242 a0002c0009t0004g0006	2	298	0.0067	37	c.239 others(54): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0356 a0002c0003t0004g0356	1	418	0.0024	37	c.-1- others(54): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS6_chr2_168451272_168780134	168559754	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0023 a0002c0005t0003g0023	1	176	0.0057	37	c.277 others(54): Show c.277-1438_277-1437insATATATATATATATATATATATATATAT ATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(30): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 NA18959.hp1 HG02976.hp2 HG03453.hp2 NA18959.hp1	a0001 a0005 a0030 a0001 a0005 a0030	a0001c0002 a0005c0008 a0030c0046 a0001c0002 a0005c0008 a0030c0046	a0001c0002t0004 a0005c0008t0002 a0030c0046t0001 a0001c0002t0004 a0005c0008t0002 a0030c0046t0001	a0001c0002t0004g0074 a0005c0008t0002g0212 a0030c0046t0001g0235 a0001c0002t0004g0074 a0005c0008t0002g0212 a0030c0046t0001g0235	3	449	0.0067	37	c.112 others(56): Show c.1126-1504_1126-1503insAAAAAAAAAGAAAAAAAAAAAAGAAA GAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP251_chr12_121913592_122008919	121965163	C C	CAGTTCAC others(30): Show CAGTTCACAGGAAAAGGCCAATAAACCTATGAGCAGAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	354	0.0028	37	c.249 others(56): Show c.2493-1791_2493-1755dupAGTTCACAGGAAAAGGCCAATAAACC TATGAGCAGAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0203 a0001c0001t0003g0204 a0001c0001t0001g0203 a0001c0001t0003g0204	2	416	0.0048	37	c.139 others(52): Show c.139+765_139+766insATATATATATATATATATATATATATATAT ATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80799168	T T	TTATATAT others(30): Show TTATATATATTGTATAAATATATTTATATAATTATTTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	96	0.0104	37	c.334 others(56): Show c.334-70794_334-70793insTATTTATATATATATTGTATAAATAT ATTTATATAAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799446	A A	AAAATATA others(30): Show AAAATATATATAATATATTTTATAAATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	96	0.0104	37	c.334 others(56): Show c.334-70520_334-70484dupATATATTTATTAAATATATATAATAT ATTTTATAAAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(30): Show ACCCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	436	0.0023	37	c.143 others(54): Show c.143+1240_143+1241insGGGGGTGCGCGTGCCCGCCCAGAGGTTG AGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(30): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01243.hp2 others(12): Show HG00438.hp2 HG00741.hp2 HG01243.hp2 HG01515.hp1 HG01981.hp1 HG02280.hp1 HG02738.hp1 HG02970.hp2 HG03669.hp1 HG04204.hp2 NA18943.hp1 NA18982.hp1 NA19000.hp2 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0003c0003t0002	a0001c0001t0001g0017 a0001c0001t0001g0088 a0001c0001t0001g0093 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0008g0214 a0001c0002t0002g0252 a0003c0003t0002g0229	15	436	0.0344	37	c.143 others(54): Show c.143+1240_143+1241insGGGGGGTGCGCGTGCCCGCCCAGAGGTT GAGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334518	C C	CCCCCCCC others(30): Show CCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	436	0.0023	37	c.143 others(54): Show c.143+1239_143+1240insTGCGCGTGCCCGCCCAGAGGTTGAGCGG GGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP43_chr10_104124888_104237364	104125184	G G	GCATTTTT others(30): Show GCATTTTTAAAAGTACAGTAGATTTTTCCCTGTATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	306	0.0033	37	c.49 others(48): Show c.4954_*4955insATAATACAGGGAAAAATCTACTGTACTTTTAAAA ATG	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding		4703		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132843767	A A	AGTGGGTG others(30): Show AGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00280.hp1 HG00733.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0149 a0019c0020t0001g0150 a0019c0020t0001g0149 a0019c0020t0001g0150	2	246	0.0081	37	c.643 others(56): Show c.6438+2253_6438+2289dupCGAGACCAGAGCCCCACAGCACCCTG GGAACACCCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132843878	G G	GGTGGGTG others(30): Show GGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0064 a0064	a0064c0101 a0064c0101	a0064c0101t0002 a0064c0101t0002	a0064c0101t0002g0022 a0064c0101t0002g0022	1	246	0.0041	37	c.643 others(56): Show c.6438+2178_6438+2179insTGAGACCAGAGCCCCACAGCACCCTG GGAACACCCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	322	0.0031	37	c.195 others(56): Show c.195+28076_195+28077insATATATATATATATATATATATATAT ATATATATATT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114199003	T T	TGCTTACG others(30): Show TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(11): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(8): Show a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0348 a0001c0001t0006g0349	14	400	0.0350	37	c.172 others(54): Show c.172-1321_172-1320insCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFDP1_chr16_75288710_75438503	75313812	G G	GTTGCTCA others(30): Show GTTGCTCAACTTGAGTTGAGCAACTTGAGCAACTCAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03688.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG03688.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004	4	314	0.0127	37	c.651 others(54): Show c.651-8631_651-8630insTTTGAGTTGCTCAAGTTGCTCAACTCAA GTTGAGCAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	314	0.0032	37	c.651 others(56): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18952.hp1 HG00558.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0082 a0001c0002t0001g0084	2	314	0.0064	37	c.651 others(56): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19012.hp1 HG00609.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0093 a0001c0002t0001g0088 a0001c0002t0001g0093	2	314	0.0064	37	c.651 others(56): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	314	0.0032	37	c.651 others(56): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(30): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0102 a0001c0002t0002g0103	2	352	0.0057	37	c.-12 others(54): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG00280.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0287 a0001c0001t0001g0288	2	352	0.0057	37	c.-12 others(54): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAC1_chr15_40948471_40961512	40958603	G G	GATAGGAC others(30): Show GATAGGACTGAGACACAAATTAAAAGCAACTGAGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	420	0.0024	37	c.28 others(48): Show c.2829_*2830insATAGGACTGAGACACAAATTAAAAGCAACTGAGA GTA	CHAC1	ENSG00000128965.13	transcript	ENST00000617768.5	protein_coding		2092		chr15	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19088.hp2 HG02630.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0146 a0002c0002t0001g0018 a0001c0001t0001g0146 a0002c0002t0001g0018	2	216	0.0093	37	c.412 others(56): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(30): Show CCCGCCGCACCCCTCCCCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	366	0.0027	37	c.-36 others(48): Show c.-3694_-3693insCCGCCGCACCCCTCCCCCGCCGCCGCCGCCGCCG CCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD5_chr1_6096787_6185321	6107542	G G	GAGGGATG others(30): Show GAGGGATGATGAAGGGATGATGGAGAGATAAAGGATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(153): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0005 others(24): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0001c0038 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0048 a0004c0037	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(80): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0050 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0077 a0001c0001t0084 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0018 a0001c0004t0024 a0001c0004t0027 a0001c0004t0030 a0001c0004t0031 a0001c0004t0066 a0001c0004t0072 a0001c0004t0075 a0001c0004t0083 a0001c0005t0004 a0001c0005t0005 a0001c0005t0030 a0001c0005t0043 a0001c0005t0057 a0001c0007t0003 a0001c0007t0005 a0001c0007t0044 a0001c0007t0058 a0001c0007t0059 a0001c0008t0003 a0001c0008t0005 a0001c0008t0012 a0001c0009t0003 a0001c0009t0004 a0001c0009t0011 a0001c0009t0014 a0001c0009t0039 a0001c0009t0041 a0001c0009t0073 a0001c0009t0079 a0001c0010t0003 a0001c0010t0004 a0001c0010t0005 a0001c0010t0012 a0001c0010t0014 a0001c0010t0051 a0001c0010t0056 a0001c0010t0080 a0001c0013t0005 a0001c0013t0032 a0001c0013t0042 a0001c0013t0060 a0001c0014t0011 a0001c0014t0033 a0001c0014t0081 a0001c0019t0011 a0001c0019t0085 a0001c0020t0004 a0001c0021t0005 a0001c0024t0012 a0001c0026t0005 a0001c0027t0004 a0001c0027t0067 a0001c0028t0014 a0001c0029t0076 a0001c0030t0029 a0001c0032t0004 a0001c0038t0035 a0001c0041t0014 a0001c0042t0005 a0001c0043t0053 a0001c0044t0082 a0001c0045t0004 a0001c0048t0005 a0004c0037t0065	a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0114 others(152): Show a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0114 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0182 a0001c0001t0003g0206 a0001c0001t0003g0239 a0001c0001t0003g0282 a0001c0001t0004g0054 a0001c0001t0004g0115 a0001c0001t0004g0138 a0001c0001t0004g0180 a0001c0001t0005g0251 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0100 a0001c0001t0007g0113 a0001c0001t0007g0191 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0203 a0001c0001t0007g0219 a0001c0001t0007g0221 a0001c0001t0007g0237 a0001c0001t0007g0258 a0001c0001t0007g0263 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0011g0232 a0001c0001t0011g0234 a0001c0001t0011g0297 a0001c0001t0027g0132 a0001c0001t0029g0055 a0001c0001t0038g0006 a0001c0001t0050g0035 a0001c0001t0068g0085 a0001c0001t0069g0190 a0001c0001t0070g0276 a0001c0001t0071g0194 a0001c0001t0077g0301 a0001c0001t0084g0310 a0001c0004t0003g0024 a0001c0004t0003g0267 a0001c0004t0004g0032 a0001c0004t0004g0081 a0001c0004t0004g0094 a0001c0004t0004g0118 a0001c0004t0004g0177 a0001c0004t0004g0198 a0001c0004t0004g0257 a0001c0004t0004g0261 a0001c0004t0004g0262 a0001c0004t0004g0270 a0001c0004t0004g0290 a0001c0004t0011g0226 a0001c0004t0018g0071 a0001c0004t0018g0083 a0001c0004t0018g0134 a0001c0004t0018g0149 a0001c0004t0024g0171 a0001c0004t0024g0254 a0001c0004t0024g0255 a0001c0004t0027g0104 a0001c0004t0030g0269 a0001c0004t0031g0084 a0001c0004t0031g0283 a0001c0004t0066g0111 a0001c0004t0072g0065 a0001c0004t0075g0300 a0001c0004t0083g0311 a0001c0005t0004g0076 a0001c0005t0004g0144 a0001c0005t0005g0099 a0001c0005t0030g0259 a0001c0005t0043g0017 a0001c0005t0057g0093 a0001c0007t0003g0067 a0001c0007t0003g0068 a0001c0007t0003g0284 a0001c0007t0003g0287 a0001c0007t0005g0041 a0001c0007t0005g0140 a0001c0007t0005g0141 a0001c0007t0005g0197 a0001c0007t0005g0246 a0001c0007t0044g0016 a0001c0007t0058g0028 a0001c0007t0059g0029 a0001c0008t0003g0249 a0001c0008t0005g0056 a0001c0008t0005g0230 a0001c0008t0012g0222 a0001c0008t0012g0223 a0001c0008t0012g0296 a0001c0009t0003g0281 a0001c0009t0004g0139 a0001c0009t0011g0240 a0001c0009t0011g0252 a0001c0009t0014g0059 a0001c0009t0014g0229 a0001c0009t0039g0013 a0001c0009t0041g0014 a0001c0009t0073g0142 a0001c0009t0079g0308 a0001c0010t0003g0044 a0001c0010t0004g0030 a0001c0010t0005g0098 a0001c0010t0005g0123 a0001c0010t0005g0143 a0001c0010t0012g0043 a0001c0010t0014g0242 a0001c0010t0051g0238 a0001c0010t0056g0072 a0001c0010t0080g0303 a0001c0013t0005g0156 a0001c0013t0005g0236 a0001c0013t0032g0224 a0001c0013t0032g0228 a0001c0013t0042g0015 a0001c0013t0060g0227 a0001c0014t0011g0038 a0001c0014t0033g0304 a0001c0014t0033g0305 a0001c0014t0081g0307 a0001c0019t0011g0201 a0001c0019t0011g0231 a0001c0019t0085g0316 a0001c0020t0004g0277 a0001c0020t0004g0278 a0001c0021t0005g0026 a0001c0021t0005g0027 a0001c0024t0012g0003 a0001c0026t0005g0063 a0001c0026t0005g0235 a0001c0027t0004g0066 a0001c0027t0067g0205 a0001c0028t0014g0058 a0001c0029t0076g0309 a0001c0030t0029g0211 a0001c0032t0004g0172 a0001c0038t0035g0005 a0001c0041t0014g0250 a0001c0042t0005g0233 a0001c0043t0053g0271 a0001c0044t0082g0313 a0001c0045t0004g0272 a0001c0048t0005g0133 a0004c0037t0065g0125	156	320	0.4875	37	c.557 others(54): Show c.5579-764_5579-763insACATCCTTTATCTCTCCATCATCCCTTC ATCATCCCT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6107696	G G	GGGATGAT others(30): Show GGGATGATGGAGAGATGGAGGAATAATAGAGGGATGAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(49): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG01106.hp1 HG01884.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03486.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18948.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(8): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0019 a0001c0028 a0001c0041 a0001c0043	a0001c0001t0003 a0001c0001t0007 a0001c0001t0029 others(17): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0029 a0001c0001t0038 a0001c0001t0050 a0001c0001t0068 a0001c0001t0084 a0001c0004t0003 a0001c0007t0003 a0001c0008t0003 a0001c0009t0003 a0001c0009t0014 a0001c0009t0039 a0001c0010t0003 a0001c0010t0014 a0001c0014t0081 a0001c0019t0085 a0001c0028t0014 a0001c0041t0014 a0001c0043t0053	a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0114 others(49): Show a0001c0001t0003g0079 a0001c0001t0003g0097 a0001c0001t0003g0114 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0182 a0001c0001t0003g0206 a0001c0001t0003g0239 a0001c0001t0003g0282 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0100 a0001c0001t0007g0113 a0001c0001t0007g0191 a0001c0001t0007g0196 a0001c0001t0007g0203 a0001c0001t0007g0219 a0001c0001t0007g0221 a0001c0001t0007g0237 a0001c0001t0007g0258 a0001c0001t0007g0263 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0029g0055 a0001c0001t0038g0006 a0001c0001t0050g0035 a0001c0001t0068g0085 a0001c0001t0084g0310 a0001c0004t0003g0024 a0001c0004t0003g0267 a0001c0007t0003g0067 a0001c0007t0003g0068 a0001c0007t0003g0284 a0001c0007t0003g0287 a0001c0008t0003g0249 a0001c0009t0003g0281 a0001c0009t0014g0059 a0001c0009t0014g0229 a0001c0009t0039g0013 a0001c0010t0003g0044 a0001c0010t0014g0242 a0001c0014t0081g0307 a0001c0019t0085g0316 a0001c0028t0014g0058 a0001c0041t0014g0250 a0001c0043t0053g0271	52	320	0.1625	37	c.557 others(54): Show c.5579-918_5579-917insATCATCCCTCTATTATTCCTCCATCTCT CCATCATCC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160260	C C	CCAGCCAG others(30): Show CCAGCCAGGGAAGGGCCTCAGCCAGAGAAGAAGAGCCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp1 HG02074.hp1 others(23): Show HG01069.hp1 HG01358.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02622.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18959.hp1 NA18979.hp1 NA18980.hp1 NA19081.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0005 a0001c0015 others(3): Show a0001c0004 a0001c0005 a0001c0015 a0001c0016 a0002c0002 a0005c0034	a0001c0004t0004 a0001c0005t0005 a0001c0005t0006 others(13): Show a0001c0004t0004 a0001c0005t0005 a0001c0005t0006 a0001c0005t0030 a0001c0005t0043 a0001c0005t0055 a0001c0015t0002 a0001c0015t0006 a0001c0015t0008 a0001c0016t0016 a0002c0002t0001 a0002c0002t0020 a0002c0002t0023 a0002c0002t0026 a0002c0002t0045 a0005c0034t0006	a0001c0004t0004g0081 a0001c0004t0004g0198 a0001c0005t0005g0099 others(23): Show a0001c0004t0004g0081 a0001c0004t0004g0198 a0001c0005t0005g0099 a0001c0005t0006g0087 a0001c0005t0006g0147 a0001c0005t0006g0151 a0001c0005t0006g0215 a0001c0005t0006g0288 a0001c0005t0006g0289 a0001c0005t0030g0259 a0001c0005t0043g0017 a0001c0005t0055g0052 a0001c0015t0002g0129 a0001c0015t0006g0102 a0001c0015t0008g0209 a0001c0016t0016g0069 a0001c0016t0016g0136 a0002c0002t0001g0046 a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0020g0021 a0002c0002t0023g0213 a0002c0002t0023g0214 a0002c0002t0026g0285 a0002c0002t0045g0020 a0005c0034t0006g0218	26	320	0.0813	37	c.208 others(52): Show c.208-746_208-745insTGGCTCTTCTTCTCTGGCTGAGGCCCTTCC CTGGCTG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160410	A A	AGAAGGGC others(30): Show AGAAGGGCCCCAGCCAGAGAAGGAGAGCCCCAGCCAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(19): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG06807.hp1 NA18906.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(7): Show a0001c0001 a0001c0004 a0001c0008 a0001c0013 a0001c0019 a0001c0026 a0001c0042 a0002c0012 a0002c0017 a0002c0047	a0001c0001t0007 a0001c0001t0011 a0001c0001t0054 others(13): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0054 a0001c0004t0006 a0001c0008t0005 a0001c0013t0005 a0001c0013t0032 a0001c0013t0042 a0001c0013t0060 a0001c0019t0011 a0001c0026t0005 a0001c0042t0005 a0002c0012t0052 a0002c0017t0001 a0002c0017t0028 a0002c0047t0078	a0001c0001t0007g0100 a0001c0001t0011g0232 a0001c0001t0011g0234 others(19): Show a0001c0001t0007g0100 a0001c0001t0011g0232 a0001c0001t0011g0234 a0001c0001t0011g0297 a0001c0001t0054g0292 a0001c0004t0006g0101 a0001c0008t0005g0056 a0001c0008t0005g0230 a0001c0013t0005g0156 a0001c0013t0005g0236 a0001c0013t0032g0228 a0001c0013t0042g0015 a0001c0013t0060g0227 a0001c0019t0011g0231 a0001c0026t0005g0063 a0001c0026t0005g0235 a0001c0042t0005g0233 a0002c0012t0052g0045 a0002c0017t0001g0294 a0002c0017t0001g0295 a0002c0017t0028g0293 a0002c0047t0078g0314	22	320	0.0688	37	c.208 others(52): Show c.208-932_208-896dupCCTGGCTGGGGCTCTCCTTCTCTGGCTGGG GCCCTTC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHERP_chr19_16512894_16547437	16515569	G G	GAGATTTG others(30): Show GAGATTTGCGTCCTTGTCTTCTCGCTTCCCGGCTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	37	c.35 others(48): Show c.3589_*3590insACAAAGCCGGGAAGCGAGAAGACAAGGACGCAAA TCT	CHERP	ENSG00000085872.15	transcript	ENST00000546361.7	protein_coding		2324		chr19	TogoVar
CHKA_chr11_68047859_68126388	68050264	C C	CAGGCTCA others(30): Show CAGGCTCAGGGCCCACAGGCGCAGGTAGGAGGCGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	276	0.0036	37	c.37 others(48): Show c.3723_*3724insACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAG CCT	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		2594		chr11	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0264 a0001c0001t0018g0264	1	290	0.0035	37	c.-17 others(56): Show c.-174-5018_-174-5017insTATATATATATATATATATATATATA TATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar

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