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
FCF1_chr14_74708144_74743620	74712038	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0049	1	364	0.0028	11	c.-11 others(22): Show c.-1160_-1159insAAAAAAAAAAA	FCF1	ENSG00000119616.11	transcript	ENST00000341162.8	protein_coding		1105		chr14	TogoVar
FCGR2B_chr1_161658143_161683654	161660899	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	394	0.0025	11	c.-23 others(22): Show c.-2343_-2342insAAAAAAAAAAA	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		2243		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661155	G G	GAACAAAG others(4): Show GAACAAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	394	0.0025	11	c.-20 others(22): Show c.-2087_-2086insAACAAAGAAGA	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1987		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661211	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	394	0.0025	11	c.-20 others(22): Show c.-2031_-2030insAGGAAGGAAGG	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1931		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661215	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	11	c.-20 others(22): Show c.-2027_-2026insAGGAAGGAAGG	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1927		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661219	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0097 a0003c0005t0001g0097	1	394	0.0025	11	c.-20 others(22): Show c.-2023_-2022insAGGAAGGAAGG	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1923		chr1	TogoVar
FCGR3A_chr1_161536759_161554818	161539070	G G	GATAGTTT others(4): Show GATAGTTTGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	11	c.39 others(22): Show c.3941_*3942insGAACAAACTAT	FCGR3A	ENSG00000203747.13	transcript	ENST00000443193.6	protein_coding		2688		chr1	TogoVar
FCHO1_chr19_17746477_17793561	17757557	A A	AAGGTGGA others(4): Show AAGGTGGACCAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0083 a0001c0002t0013g0083	1	352	0.0028	11	c.27+ others(26): Show c.27+2366_27+2367insAGGTGGACCAC	FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding	4/28			chr19	TogoVar
FCHO1_chr19_17746477_17793561	17791966	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(46): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18945.hp2 NA18955.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18999.hp1 NA19077.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0007t0002	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(45): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0240 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0329 a0001c0001t0005g0195 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0120 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0242 a0001c0003t0001g0149 a0001c0003t0001g0154 a0001c0003t0001g0274 a0001c0003t0004g0146 a0001c0003t0004g0155 a0001c0003t0004g0160 a0001c0004t0002g0042 a0001c0004t0003g0022 a0001c0005t0001g0001 a0001c0005t0001g0133 a0001c0007t0002g0332	49	352	0.1392	11	c.36 others(22): Show c.3660_*3661insTTTTTTTTTTT	FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding		3406		chr19	TogoVar
FCHO1_chr19_17746477_17793561	17792577	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	352	0.0028	11	c.42 others(22): Show c.4271_*4272insAAAAAAAAAAA	FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding		4017		chr19	TogoVar
FCHO2_chr5_72951041_73095522	72996243	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp2 HG02630.hp2 others(1): Show HG00609.hp2 HG01261.hp2 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010	a0001c0003t0004g0081 a0001c0003t0004g0094 a0001c0003t0005g0108 others(1): Show a0001c0003t0004g0081 a0001c0003t0004g0094 a0001c0003t0005g0108 a0001c0003t0010g0009	4	286	0.0140	11	c.495 others(28): Show c.495+5386_495+5396dupAAAAAAAAAAA	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141655206	C C	CCCTGATG others(4): Show CCCTGATGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	428	0.0023	11	c.-38 others(22): Show c.-3839_-3838insAGGCCATCAGG	FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding		3789		chr5	TogoVar
FCHSD1_chr5_141634302_141656418	141655259	C C	CACACACA others(4): Show CACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	428	0.0023	11	c.-38 others(22): Show c.-3892_-3891insTGTGTGTGTGT	FCHSD1	ENSG00000197948.11	transcript	ENST00000435817.7	protein_coding		3842		chr5	TogoVar
FCHSD2_chr11_72831745_73147318	72846094	A A	AGATAGAT others(4): Show AGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	290	0.0035	11	c.144 others(30): Show c.1444-2563_1444-2562insATCTATCTATC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	14/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	72959220	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp1 NA19043.hp2 HG03041.hp2 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0015 a0001c0004t0001 a0001c0004t0015	a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0015g0092 a0001c0004t0001g0006 a0001c0004t0001g0089 a0001c0004t0015g0092	3	290	0.0103	11	c.705 others(30): Show c.705+24857_705+24867dupAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	8/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00639.hp1 others(33): Show HG00099.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01261.hp2 HG01891.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02683.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03710.hp1 HG06807.hp2 NA18906.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA19003.hp1 NA19030.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0036 others(33): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0002g0014 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0203 a0001c0001t0003g0151 a0001c0001t0003g0159 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0028 a0001c0001t0005g0040 a0001c0001t0005g0185 a0001c0001t0014g0195 a0001c0001t0019g0289	36	290	0.1241	11	c.120 others(30): Show c.120-13258_120-13248dupAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CTGTGTGT others(4): Show CTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0290 a0001c0001t0020g0290	1	290	0.0035	11	c.-93 others(20): Show c.-935_-934insACACACACACA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FCN1_chr9_134898232_134922912	134902930	A A	AAAGAAAA others(4): Show AAAGAAAATTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0051 a0001c0003t0057g0051	1	434	0.0023	11	c.68 others(22): Show c.6867_*6868insCCAATTTTCTT	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding		301		chr9	TogoVar
FCRL1_chr1_157789403_157825120	157822439	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	406	0.0025	11	c.-24 others(22): Show c.-2403_-2402insTTTTTTTTTTT	FCRL1	ENSG00000163534.15	transcript	ENST00000368176.8	protein_coding		2320		chr1	TogoVar
FCRL5_chr1_157508377_157557515	157535943	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(49): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00733.hp1 HG01069.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp1 HG02071.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02602.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18956.hp2 NA18964.hp1 NA18988.hp2 NA19000.hp1 NA19060.hp1 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0009 a0011 a0012 a0014 a0016 a0018 a0019	a0001c0001 a0001c0022 a0002c0007 others(9): Show a0001c0001 a0001c0022 a0002c0007 a0003c0003 a0006c0006 a0009c0010 a0011c0017 a0012c0015 a0014c0032 a0016c0019 a0018c0021 a0019c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0022t0001 a0002c0007t0005 a0003c0003t0003 a0003c0003t0004 a0006c0006t0001 a0006c0006t0002 a0009c0010t0002 a0011c0017t0017 a0012c0015t0016 a0012c0015t0028 a0014c0032t0012 a0016c0019t0019 a0018c0021t0031 a0019c0024t0002	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0033 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0002g0083 a0001c0001t0002g0140 a0001c0001t0002g0154 a0001c0001t0015g0138 a0001c0022t0001g0151 a0002c0007t0005g0229 a0003c0003t0003g0259 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0268 a0003c0003t0003g0269 a0003c0003t0003g0270 a0003c0003t0003g0271 a0003c0003t0003g0277 a0003c0003t0003g0281 a0003c0003t0004g0080 a0006c0006t0001g0079 a0006c0006t0001g0166 a0006c0006t0001g0167 a0006c0006t0001g0169 a0006c0006t0001g0187 a0006c0006t0002g0168 a0006c0006t0002g0184 a0009c0010t0002g0246 a0011c0017t0017g0040 a0012c0015t0016g0038 a0012c0015t0028g0181 a0014c0032t0012g0190 a0016c0019t0019g0085 a0018c0021t0031g0253 a0019c0024t0002g0120	52	366	0.1421	11	c.140 others(30): Show c.1403-1062_1403-1052dupAAAAAAAAAAA	FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	7/16			chr1	TogoVar
FCRLA_chr1_161702229_161719352	161705904	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02630.hp1 others(13): Show HG00741.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02818.hp2 HG03471.hp1 HG04184.hp2 NA18939.hp1 NA18956.hp1 NA18972.hp1 NA18980.hp2 NA18984.hp2 NA19010.hp2 NA19058.hp1 NA19083.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0006 a0001c0001 a0003c0005 a0004c0006	a0001c0001t0001 a0003c0005t0001 a0004c0006t0002 a0001c0001t0001 a0003c0005t0001 a0004c0006t0002	a0001c0001t0001g0042 a0003c0005t0001g0006 a0004c0006t0002g0009 a0001c0001t0001g0042 a0003c0005t0001g0006 a0004c0006t0002g0009	16	472	0.0339	11	c.-13 others(22): Show c.-1361_-1360insTTTTTTTTTTT	FCRLA	ENSG00000132185.18	transcript	ENST00000236938.12	protein_coding		1324		chr1	TogoVar
FCSK_chr16_70449595_70485274	70454250	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	356	0.0028	11	c.-40 others(20): Show c.-403_-402insAAAAAAAAAAA	FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding		344		chr16	TogoVar
FDFT1_chr8_11797741_11844298	11832551	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02293.hp2 HG00140.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0377 a0001c0002t0001g0062 a0001c0001t0001g0377 a0001c0002t0001g0062	2	458	0.0044	11	c.103 others(28): Show c.1032+896_1032+906dupAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDFT1_chr8_11797741_11844298	11835971	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02738.hp2 NA18987.hp2 HG00639.hp2 HG02738.hp2 NA18987.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0002 a0007c0020t0002 a0001c0001t0002 a0007c0020t0002	a0001c0001t0002g0059 a0001c0001t0002g0163 a0007c0020t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0163 a0007c0020t0002g0058	3	458	0.0066	11	c.103 others(30): Show c.1033-2403_1033-2393dupAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDX1_chr11_110424948_110469884	110434334	A A	ATTTGCTT others(4): Show ATTTGCTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	400	0.0025	11	c.186 others(28): Show c.186-1497_186-1496insGCTTTTTTTTT	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FDX2_chr19_10305045_10321015	10310140	C C	CAAAGTGC others(4): Show CAAAGTGCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0301 a0002c0004t0005g0301	1	444	0.0023	11	c.33 others(20): Show c.335_*345dupCCTAGCACTTT	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	5/5	345		chr19	TogoVar
FDX2_chr19_10305045_10321015	10313671	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	444	0.0023	11	c.307 others(28): Show c.307+1714_307+1715insAAATATATATA	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FDX2_chr19_10305045_10321015	10313672	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02080.hp1 HG02647.hp1 others(3): Show HG00741.hp1 HG02080.hp1 HG02647.hp1 HG03098.hp1 HG03669.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 others(3): Show a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0225 a0001c0002t0001g0233 a0001c0002t0001g0245	6	444	0.0135	11	c.307 others(28): Show c.307+1713_307+1714insTATATATATAT	FDX2	ENSG00000267673.7	transcript	ENST00000393708.3	protein_coding	3/4			chr19	TogoVar
FECH_chr18_57539377_57591702	57563580	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19066.hp2 NA18989.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0159 a0001c0001t0036 a0001c0001t0159	a0001c0001t0036g0243 a0001c0001t0159g0157 a0001c0001t0036g0243 a0001c0001t0159g0157	2	422	0.0047	11	c.599 others(26): Show c.599-611_599-601dupTTTTTTTTTTT	FECH	ENSG00000066926.13	transcript	ENST00000262093.11	protein_coding	5/10			chr18	TogoVar
FECH_chr18_57539377_57591702	57572866	A A	AAGAAGGG others(4): Show AAGAAGGGCAGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 HG03471.hp1 others(2): Show HG01243.hp2 HG03041.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0029 a0001c0001t0062 others(1): Show a0001c0001t0014 a0001c0001t0029 a0001c0001t0062 a0001c0001t0080	a0001c0001t0014g0218 a0001c0001t0029g0217 a0001c0001t0062g0007 others(1): Show a0001c0001t0014g0218 a0001c0001t0029g0217 a0001c0001t0062g0007 a0001c0001t0080g0219	5	422	0.0119	11	c.314 others(26): Show c.314+369_314+379dupGCTGCCCTTCT	FECH	ENSG00000066926.13	transcript	ENST00000262093.11	protein_coding	3/10			chr18	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02738.hp1 HG03710.hp1 others(9): Show HG00544.hp2 HG02738.hp1 HG03710.hp1 NA18951.hp2 NA18965.hp1 NA18967.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19068.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0073 a0001c0001t0081 a0001c0001t0117 others(5): Show a0001c0001t0073 a0001c0001t0081 a0001c0001t0117 a0001c0001t0285 a0001c0002t0013 a0001c0002t0051 a0001c0002t0268 a0001c0002t0294	a0001c0001t0073g0000 a0001c0001t0081g0000 a0001c0001t0117g0000 others(5): Show a0001c0001t0073g0000 a0001c0001t0081g0000 a0001c0001t0117g0000 a0001c0001t0285g0000 a0001c0002t0013g0000 a0001c0002t0051g0000 a0001c0002t0268g0000 a0001c0002t0294g0000	12	430	0.0279	11	c.60 others(22): Show c.6059_*6069dupAAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FEM1A_chr19_4786734_4806273	4799907	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0236 a0001c0001t0248 a0001c0001t0236 a0001c0001t0248	a0001c0001t0236g0000 a0001c0001t0248g0000 a0001c0001t0236g0000 a0001c0001t0248g0000	2	430	0.0047	11	c.60 others(22): Show c.6053_*6054insTAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6054	INFO_REALIGN_3_PRIME	chr19	TogoVar
FEM1A_chr19_4786734_4806273	4799918	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG03516.hp1 HG02109.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0247 a0003c0005t0168 a0001c0001t0247 a0003c0005t0168	a0001c0001t0247g0000 a0003c0005t0168g0000 a0001c0001t0247g0000 a0003c0005t0168g0000	2	430	0.0047	11	c.60 others(22): Show c.6064_*6065insTAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6065	INFO_REALIGN_3_PRIME	chr19	TogoVar
FEM1A_chr19_4786734_4806273	4799918	A A	ATAAAAAA others(4): Show ATAAAAAAAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0169 a0003c0005t0169	a0003c0005t0169g0000 a0003c0005t0169g0000	1	430	0.0023	11	c.60 others(22): Show c.6054_*6055insTAAAAAAAAAT	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6055		chr19	TogoVar
FEM1C_chr5_115515908_115549775	115516635	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0136 a0001c0001t0040g0136	1	406	0.0025	11	c.76 others(22): Show c.7672_*7673insTTTTTTTTTTT	FEM1C	ENSG00000145780.8	transcript	ENST00000274457.5	protein_coding		4272		chr5	TogoVar
FEM1C_chr5_115515908_115549775	115547975	A A	ATATATAT others(4): Show ATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01928.hp2 HG02145.hp2 others(2): Show HG01433.hp2 HG01928.hp2 HG02145.hp2 HG02293.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0004g0134	5	406	0.0123	11	c.-36 others(22): Show c.-3644_-3643insATACATATATA	FEM1C	ENSG00000145780.8	transcript	ENST00000274457.5	protein_coding		3201		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659333	C C	CCTTCCTT others(4): Show CCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	226	0.0044	11	c.748 others(27): Show c.748-1006_748-996dupTTCCTTCCTTC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96661805	T T	TATTAAAT others(4): Show TATTAAATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0154 a0010c0025t0001g0154	1	226	0.0044	11	c.101 others(26): Show c.1018+14_1018+15insATTAAATTTTA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	12/52			chr2	TogoVar
FER1L5_chr2_96637764_96709883	96671106	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG02698.hp2 others(5): Show HG01123.hp2 HG02280.hp2 HG02698.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 NA18963.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0171 a0002c0001t0001g0036 a0002c0001t0001g0147 others(5): Show a0001c0002t0001g0171 a0002c0001t0001g0036 a0002c0001t0001g0147 a0002c0001t0001g0151 a0002c0001t0001g0167 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0216	8	226	0.0354	11	c.149 others(28): Show c.1491+871_1491+881dupAAAAAAAAAAA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	18/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123904224	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0015 a0001c0009t0002g0015	1	196	0.0051	11	c.-7- others(28): Show c.-7-51768_-7-51767insGTGTGTGTGTG	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40			chr8	TogoVar
FER1L6_chr8_123846987_124125061	123988114	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0024 a0024	a0024c0030 a0024c0030	a0024c0030t0007 a0024c0030t0007	a0024c0030t0007g0150 a0024c0030t0007g0150	1	196	0.0051	11	c.151 others(30): Show c.1519+1939_1519+1949dupAAAAAAAAAAA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	12/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FERD3L_chr7_19139782_19150421	19147724	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA19065.hp2 HG03453.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	470	0.0043	11	c.-23 others(22): Show c.-2363_-2362insGAAAGAAAGAA	FERD3L	ENSG00000146618.3	transcript	ENST00000275461.3	protein_coding		2304		chr7	TogoVar
FERMT1_chr20_6069845_6128030	6124248	G G	GCTGCGCG others(4): Show GCTGCGCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0028 a0001c0003t0010g0028	1	368	0.0027	11	c.-14 others(22): Show c.-1494_-1493insTGCGCGCGCAG	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding		1219		chr20	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02818.hp2 HG02129.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0243 a0001c0015t0001g0215 a0001c0001t0001g0243 a0001c0015t0001g0215	2	288	0.0069	11	c.392 others(28): Show c.392-9452_392-9442dupTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52927590	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0078 a0001c0002t0002g0068 a0001c0002t0001g0078 a0001c0002t0002g0068	2	288	0.0069	11	c.158 others(28): Show c.158-8235_158-8234insTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52927592	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01981.hp1 HG02109.hp2 others(1): Show HG00733.hp1 HG01981.hp1 HG02109.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0001 a0001c0001t0001 a0003c0014t0001	a0001c0001t0001g0085 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0198 a0001c0001t0001g0199 a0003c0014t0001g0086	4	288	0.0139	11	c.158 others(28): Show c.158-8247_158-8237dupTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52943208	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0218 a0001c0002t0001g0087 a0001c0002t0001g0218	2	288	0.0069	11	c.157 others(28): Show c.157+7203_157+7204insTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	2/14			chr14	TogoVar
FER_chr5_108742897_109201841	108822709	A A	ATTTTATT others(4): Show ATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0026 a0001c0014t0001g0026	1	138	0.0073	11	c.208 others(30): Show c.208-10058_208-10057insTATTTTATTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108849475	G G	GTTGTTGT others(4): Show GTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0107 a0001c0002t0002g0122 a0001c0002t0001g0107 a0001c0002t0002g0122	2	138	0.0145	11	c.481 others(30): Show c.481+13673_481+13674insGTTGTTTTGTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108879701	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp1 NA19043.hp2 HG02145.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0046 a0001c0008t0012 a0001c0001t0001 a0001c0001t0046 a0001c0008t0012	a0001c0001t0001g0085 a0001c0001t0046g0086 a0001c0008t0012g0081 a0001c0001t0001g0085 a0001c0001t0046g0086 a0001c0008t0012g0081	3	138	0.0217	11	c.924 others(28): Show c.924-3695_924-3694insTATATATATAT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	8/19			chr5	TogoVar

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