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
CFAP58_chr10_104348833_104460102	104458594	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0090	1	308	0.0033	22	c.40 others(33): Show c.4064_*4065insTGTATATATATATATATATATA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding		3493		chr10	TogoVar
CFAP61_chr20_20047532_20365698	20106000	C C	CTATACAT others(15): Show CTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	236	0.0042	22	c.859 others(39): Show c.859+7190_859+7191insCATATATATATATATATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20202311	A A	ATTTCACA others(15): Show ATTTCACAGGTGAATTCTGACTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0019 a0002c0002t0001g0038 a0001c0001t0006g0019 a0002c0002t0001g0038	2	236	0.0085	22	c.193 others(41): Show c.1932+2413_1932+2434dupCACAGGTGAATTCTGACTGTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320433	A A	ATATGTAA others(15): Show ATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02970.hp1 NA18522.hp1 HG01169.hp2 HG02970.hp1 NA18522.hp1	a0004 a0011 a0004 a0011	a0004c0008 a0011c0018 a0004c0008 a0011c0018	a0004c0008t0001 a0004c0008t0003 a0011c0018t0003 a0004c0008t0001 a0004c0008t0003 a0011c0018t0003	a0004c0008t0001g0135 a0004c0008t0003g0184 a0011c0018t0003g0122 a0004c0008t0001g0135 a0004c0008t0003g0184 a0011c0018t0003g0122	3	236	0.0127	22	c.342 others(43): Show c.3423-21396_3423-21395insTGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(15): Show ATATATATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	392	0.0026	22	c.28 others(33): Show c.2882_*2883insTATATATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATGTAT others(15): Show ATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01978.hp1 NA18956.hp1 others(3): Show HG01261.hp2 HG01978.hp1 NA18956.hp1 NA18969.hp1 NA18972.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0001g0001 a0001c0001t0007g0001	6	392	0.0153	22	c.28 others(33): Show c.2882_*2883insTATGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG04184.hp2 HG00639.hp2 HG02145.hp1 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0002 a0004c0007t0001 a0001c0002t0002 a0004c0007t0001	a0001c0002t0002g0150 a0004c0007t0001g0270 a0004c0007t0001g0271 a0001c0002t0002g0150 a0004c0007t0001g0270 a0004c0007t0001g0271	3	338	0.0089	22	c.120 others(39): Show c.120+4670_120+4691dupGAGAGAGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP73_chr12_113144724_113164276	113146691	G G	GAGGTAGA others(15): Show GAGGTAGAGGTTGCAGTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0046 a0002c0002t0010g0046	1	326	0.0031	22	c.-31 others(33): Show c.-3167_-3166insAGGTAGAGGTTGCAGTGAGCCA	CFAP73	ENSG00000186710.12	transcript	ENST00000335621.11	protein_coding		3032		chr12	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	322	0.0031	22	c.195 others(41): Show c.195+28076_195+28077insATATATATATATATATATTTTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(15): Show ATATATATATATATATGTATTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp1 HG02970.hp1 HG01167.hp2 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0152 a0001c0001t0001g0246 a0001c0005t0002g0157 a0001c0001t0001g0152 a0001c0001t0001g0246 a0001c0005t0002g0157	3	322	0.0093	22	c.195 others(41): Show c.195+28076_195+28077insATATATATATATATGTATTTTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486024	A A	ATATGTAT others(15): Show ATATGTATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02145.hp1 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0167 a0001c0004t0002g0201 a0001c0004t0001g0167 a0001c0004t0002g0201	2	322	0.0062	22	c.196 others(41): Show c.196-12668_196-12667insGTATATGTATGTGTGTGTGTAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486026	A A	ATATGTAT others(15): Show ATATGTATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0191 a0001c0004t0001g0191	1	322	0.0031	22	c.196 others(41): Show c.196-12666_196-12665insGTATATGTATGTGTGTGTGTAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132559346	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19064.hp2 HG03516.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0001 a0001c0004t0002 a0002c0003t0001	a0001c0004t0002g0178 a0002c0003t0001g0213 a0001c0004t0002g0178 a0002c0003t0001g0213	2	322	0.0062	22	c.733 others(41): Show c.733-13022_733-13021insAAAAAAAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(7): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG06807.hp1 NA18943.hp1 NA18948.hp2 NA18959.hp1 NA18970.hp1 NA18990.hp2 NA19076.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0014c0028 a0001c0002 a0014c0028	a0001c0002t0002 a0001c0002t0006 a0014c0028t0006 a0001c0002t0002 a0001c0002t0006 a0014c0028t0006	a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 others(7): Show a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0006g0085 a0001c0002t0006g0086 a0014c0028t0006g0081	10	386	0.0259	22	c.359 others(37): Show c.359+188_359+189insTATATATATATATATATATATA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18965.hp1 HG01099.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0299 a0001c0001t0001g0130 a0001c0001t0001g0299	2	386	0.0052	22	c.146 others(39): Show c.1461+863_1461+884dupTTTTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02300.hp1 HG02486.hp2 others(21): Show HG01069.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG03239.hp2 HG03490.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18966.hp1 NA18969.hp1 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp1 NA19009.hp2 NA19078.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0209 others(21): Show a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0239 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0323 a0001c0001t0001g0365 a0001c0001t0001g0371 a0001c0001t0002g0137 a0001c0002t0001g0218 a0001c0002t0001g0235 a0001c0002t0001g0277 a0001c0002t0001g0284 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0332 a0001c0005t0001g0238	24	380	0.0632	22	c.153 others(39): Show c.153-3341_153-3320dupATATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp2 HG02148.hp2 others(5): Show HG01243.hp2 HG01256.hp2 HG02148.hp2 HG02723.hp2 HG06807.hp2 NA18747.hp2 NA18950.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0321 a0001c0001t0001g0337 a0001c0002t0001g0106	8	380	0.0211	22	c.153 others(39): Show c.153-3352_153-3351insTTATATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(15): Show TCCCCCCCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	380	0.0026	22	c.153 others(39): Show c.153-1001_153-1000insCCCCCCTCCTCCTCCCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(15): Show TCCCCCCCTCCTCCTCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	380	0.0026	22	c.153 others(39): Show c.153-1001_153-1000insCCCCCTCCTCCTCCCCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69895369	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	380	0.0026	22	c.507 others(39): Show c.507+8475_507+8476insCTCTCTCTCTGTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97_chr4_185154665_185209000	185192733	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02809.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0009 a0001c0004t0007 a0001c0004t0009	a0001c0004t0007g0058 a0001c0004t0009g0059 a0001c0004t0007g0058 a0001c0004t0009g0059	2	350	0.0057	22	c.-16 others(39): Show c.-16-1543_-16-1522dupAAAAAAAAAAAAAAAAAAAAAA	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 NA19043.hp1 HG02572.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0005 a0001c0015 a0002c0005	a0001c0015t0001 a0002c0005t0001 a0001c0015t0001 a0002c0005t0001	a0001c0015t0001g0012 a0002c0005t0001g0048 a0001c0015t0001g0012 a0002c0005t0001g0048	2	350	0.0057	22	c.37 others(33): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	314	0.0032	22	c.651 others(41): Show c.651-44501_651-44500insATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18957.hp1 HG00738.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0290 a0001c0001t0001g0237 a0001c0001t0001g0290	2	314	0.0064	22	c.651 others(41): Show c.651-44503_651-44502insATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19030.hp1 NA19011.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0286 a0001c0002t0001g0273 a0001c0001t0001g0286 a0001c0002t0001g0273	2	314	0.0064	22	c.651 others(41): Show c.651-44507_651-44506insATATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 NA18522.hp2 others(1): Show HG02622.hp1 HG03453.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0144	4	314	0.0127	22	c.651 others(41): Show c.651-44517_651-44516insGTGTATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	314	0.0032	22	c.651 others(41): Show c.651-44517_651-44516insGTATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02155.hp2 others(11): Show HG00408.hp1 HG02040.hp1 HG02155.hp2 HG03130.hp1 HG03239.hp1 HG03710.hp2 NA18943.hp2 NA18945.hp1 NA18956.hp2 NA18960.hp1 NA19004.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0004g0005	14	287	0.0488	22	c.80 others(31): Show c.804_*805insCACACACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(15): Show ACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02083.hp2 others(3): Show HG01361.hp2 HG01884.hp1 HG02083.hp2 HG02630.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0007	a0001c0001t0001g0029 a0001c0001t0002g0003 a0001c0001t0003g0004 others(1): Show a0001c0001t0001g0029 a0001c0001t0002g0003 a0001c0001t0003g0004 a0001c0003t0007g0011	6	287	0.0209	22	c.82 others(31): Show c.822_*823insCACACACACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(15): Show ACACACACACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG03579.hp2 HG02717.hp2 HG03540.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0007 a0003c0004t0001 a0001c0003t0007 a0003c0004t0001	a0001c0003t0007g0011 a0003c0004t0001g0030 a0001c0003t0007g0011 a0003c0004t0001g0030	3	287	0.0105	22	c.82 others(31): Show c.822_*823insCACACACACACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02293.hp1 HG00099.hp2 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	2	275	0.0073	22	c.59- others(35): Show c.59-717_59-696dupATATATATATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(12): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00738.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 NA18947.hp2 NA18964.hp2 NA18975.hp2 NA18980.hp2 NA19063.hp2 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0008 others(7): Show a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0016 a0002c0001t0002g0025 a0002c0001t0002g0055 a0002c0001t0002g0059 a0002c0001t0002g0062 a0002c0001t0002g0072	15	261	0.0575	22	c.-21 others(33): Show c.-2193_-2192insTATATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19007.hp1 HG01496.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	308	0.0065	22	c.58+ others(37): Show c.58+6233_58+6254dupTTTTTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	308	0.0033	22	c.151 others(39): Show c.1519+752_1519+753insTATAGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0295 a0004c0004t0001g0139 a0001c0001t0001g0295 a0004c0004t0001g0139	2	308	0.0065	22	c.151 others(39): Show c.1519+752_1519+753insTATATATATATATATAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109754630	G G	GCAATCCT others(15): Show GCAATCCTGTGTCTTCTCACTGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	354	0.0028	22	c.905 others(39): Show c.905-2149_905-2128dupTCAGTGAGAAGACACAGGATTG	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(15): Show TAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	354	0.0028	22	c.58- others(39): Show c.58-16988_58-16987insTATATATATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	354	0.0057	22	c.58- others(39): Show c.58-17010_58-16989dupATATATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109802703	G G	GAGTAGAA others(15): Show GAGTAGAAGCCCTGTTCAGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	354	0.0028	22	c.-73 others(31): Show c.-733_-732insAGTTCTGAACAGGGCTTCTACT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding		705		chr4	TogoVar
CFL2_chr14_34704113_34719593	34711488	C C	CAATTCAA others(15): Show CAATTCAATTTGCAAAATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0037 a0001c0001t0044g0037	1	431	0.0023	22	c.13 others(33): Show c.1355_*1376dupAATATATTTTGCAAATTGAATT	CFL2	ENSG00000165410.15	transcript	ENST00000298159.11	protein_coding	4/4	1376		chr14	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0063 a0001c0002t0007g0063	1	410	0.0024	22	c.657 others(39): Show c.657+2016_657+2017insTTGTGTGTGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02109.hp1 HG03831.hp1 others(2): Show HG01192.hp1 HG02109.hp1 HG03831.hp1 NA19001.hp1 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0001 a0002c0008t0003 a0002c0001t0001 a0002c0008t0003	a0002c0001t0001g0140 a0002c0001t0001g0166 a0002c0001t0001g0170 others(2): Show a0002c0001t0001g0140 a0002c0001t0001g0166 a0002c0001t0001g0170 a0002c0001t0001g0270 a0002c0008t0003g0272	5	410	0.0122	22	c.-13 others(33): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57373995	G G	GCCCTTCC others(15): Show GCCCTTCCCTTCCCTTTTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0075 a0005c0006t0003g0075	1	294	0.0034	22	c.-25 others(33): Show c.-2588_-2587insCCCTTCCCTTCCCTTTTCCCTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		2509		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0003 a0002c0040t0003	a0002c0040t0003g0069 a0002c0040t0003g0069	1	294	0.0034	22	c.-16 others(41): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	294	0.0034	22	c.-15 others(41): Show c.-15-28933_-15-28912dupCACACACACACACACACACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	294	0.0034	22	c.169 others(39): Show c.1698-170_1698-169insAAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 NA18522.hp1 others(1): Show HG00738.hp2 HG01169.hp2 NA18522.hp1 NA18995.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0002c0003t0003 a0004c0006t0002 a0001c0001t0001 a0002c0003t0003 a0004c0006t0002	a0001c0001t0001g0232 a0001c0001t0001g0233 a0002c0003t0003g0234 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0233 a0002c0003t0003g0234 a0004c0006t0002g0108	4	352	0.0114	22	c.-12 others(39): Show c.-12+1953_-12+1974dupGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19065.hp2 NA19084.hp1 HG03017.hp2 NA19065.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0062 a0001c0002t0002g0117 a0001c0002t0002g0118	3	352	0.0085	22	c.-12 others(39): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19088.hp2 NA18943.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0097 a0002c0002t0002g0192 a0001c0001t0001g0097 a0002c0002t0002g0192	2	338	0.0059	22	c.571 others(39): Show c.571-2349_571-2328dupACACACACACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18966.hp1 HG02132.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0127 a0001c0001t0001g0130	2	384	0.0052	22	c.104 others(37): Show c.104-433_104-412dupTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar

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