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
EXOC3L4_chr14_103089725_103115559	103109651	T T	TCCCTCCC others(31): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0165 a0003c0001t0001g0165	1	404	0.0025	38	c.197 others(55): Show c.1977-378_1977-377insCTCCCTCCCTCTCCACCCTGTCCCCATG TCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133857325	G G	GTATATAT others(31): Show GTATATATATATATATATATACACGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	102	0.0098	38	c.173 others(59): Show c.1735-38254_1735-38253insCACGTATATATATATATATATATA TATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	102	0.0098	38	c.220 others(57): Show c.2206+3782_2206+3783insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72401584	T T	TATATATA others(31): Show TATATATATATATATATATATGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	104	0.0096	38	c.198 others(59): Show c.1981-21715_1981-21714insGTATATATATATATATACATATAT ATATATATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	284	0.0035	38	c.248 others(55): Show c.2488+314_2488+315insTCTCTCTCTCTCTCTCACACACACACAC ACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11069244	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0001g0175 a0001c0001t0001g0212	2	284	0.0070	38	c.248 others(55): Show c.2488+314_2488+315insTCTCTCTCTCTCTCACACACACACACAC ACACACACAC	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	22/24			chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11103622	T T	TTAAAGGC others(31): Show TTAAAGGCCTCCGGCCTTCGGAGCCTGAGAACTGTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0265	1	284	0.0035	38	c.-37 others(49): Show c.-3792_-3791insTAATACAGTTCTCAGGCTCCGAAGGCCGGAGGCC TTTA	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding		3754		chr1	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(31): Show TATATATACATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	334	0.0030	38	c.743 others(55): Show c.743+4869_743+4870insTATATACATATATATATATATATATATA TATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(31): Show TATATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03834.hp1 HG04184.hp1 HG01167.hp2 HG03834.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0233	3	334	0.0090	38	c.743 others(55): Show c.743+4869_743+4870insTATATACATATATATATATATATATATA TATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATTCA others(31): Show TATATTCATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	334	0.0030	38	c.743 others(55): Show c.743+4869_743+4870insTATTCATATATATATATATATATATATA TATATATACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL2_chr1_100867391_100899842	100898070	G G	GGAGTGTA others(31): Show GGAGTGTATCATAGCTTATATATGCATATTTTGTATCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02145.hp1 others(10): Show HG01109.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02630.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG06807.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0006 a0001c0002t0007 a0001c0002t0011 others(3): Show a0001c0001t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0004t0006 a0002c0005t0007	a0001c0001t0006g0059 a0001c0002t0007g0061 a0001c0002t0011g0060 others(4): Show a0001c0001t0006g0059 a0001c0002t0007g0061 a0001c0002t0011g0060 a0001c0002t0012g0062 a0001c0004t0006g0024 a0001c0004t0006g0170 a0002c0005t0007g0025	13	410	0.0317	38	c.-35 others(49): Show c.-3547_-3510dupTTGATACAAAATATGCATATATAAGCTATGATAC ACTC	EXTL2	ENSG00000162694.14	transcript	ENST00000370114.8	protein_coding		3229		chr1	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	238	0.0042	38	c.-10 others(55): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	238	0.0042	38	c.-10 others(55): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	238	0.0042	38	c.-10 others(55): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	64019830	A A	ATATATAT others(31): Show ATATATATATATGTATATATAAGTATATATATATACACT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp1 HG02896.hp2 HG02970.hp1	a0010 a0018 a0010 a0018	a0010c0003 a0018c0016 a0010c0003 a0018c0016	a0010c0003t0001 a0018c0016t0001 a0010c0003t0001 a0018c0016t0001	a0010c0003t0001g0016 a0018c0016t0001g0003 a0010c0003t0001g0016 a0018c0016t0001g0003	2	24	0.0833	38	c.672 others(59): Show c.6726-20648_6726-20647insAGTGTATATATATATACTTATATA TACATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	33/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64151317	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0001 a0012c0005t0001	a0012c0005t0001g0014 a0012c0005t0001g0014	1	24	0.0417	38	c.642 others(59): Show c.6425-69316_6425-69315insTATATATATAAATATATATATATA TATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64295387	A A	AAGAGGAG others(31): Show AAGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0020 a0020	a0020c0015 a0020c0015	a0020c0015t0002 a0020c0015t0002	a0020c0015t0002g0023 a0020c0015t0002g0023	1	24	0.0417	38	c.619 others(59): Show c.6191+11582_6191+11583insCTTCCTCCTCCTCCTCCTCTTCCT CCTCCTCCTCCTCT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65278057	C C	CTTTTCTT others(31): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0019 a0003c0002t0002g0019	1	24	0.0417	38	c.202 others(59): Show c.2023+17805_2023+17806insAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
F13A1_chr6_6139084_6325662	6316078	C C	CACATATA others(31): Show CACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	292	0.0034	38	c.130 others(55): Show c.130+2456_130+2457insATATATATATATATATATATATATATAT ATATATATGT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F2R_chr5_76711126_76740770	76724915	C C	CAGTAATG others(31): Show CAGTAATGCTGGTGTTTTTCCACTTGACAGAGTTAGTGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0089 a0001c0001t0010g0089	1	422	0.0024	38	c.89- others(53): Show c.89-7382_89-7381insTCCACTTGACAGAGTTAGTGTAGTAATGCT GGTGTTTT	F2R	ENSG00000181104.7	transcript	ENST00000319211.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
F2_chr11_46714213_46744506	46730796	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01261.hp1 others(1): Show HG01109.hp1 HG01257.hp2 HG01261.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0021 a0001c0004t0001g0052 a0001c0004t0002g0045 a0001c0004t0001g0021 a0001c0004t0001g0052 a0001c0004t0002g0045	4	350	0.0114	38	c.165 others(57): Show c.1654+1238_1654+1239insATATATATATATATATATATATATAT ATATATATGTAT	F2	ENSG00000180210.15	transcript	ENST00000311907.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0004 a0016c0035t0004	a0016c0035t0004g0070 a0016c0035t0004g0070	1	306	0.0033	38	c.952 others(53): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0238 a0002c0002t0003g0238	1	400	0.0025	38	c.-80 others(47): Show c.-804_-803insATATATATATATATATATATATATATATATATATAT AT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	400	0.0025	38	c.-80 others(47): Show c.-802_-801insAAAAATATATATATATATATATATATATATATATAT AT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19086.hp1 NA19089.hp2 others(1): Show NA18959.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0002 a0001c0010t0001 a0001c0001t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0056 a0001c0002t0002g0003 a0001c0002t0002g0223 others(1): Show a0001c0001t0001g0056 a0001c0002t0002g0003 a0001c0002t0002g0223 a0001c0010t0001g0155	4	282	0.0142	38	c.276 others(55): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA TATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FADS2_chr11_61823300_61872354	61824488	G G	GAGAGGAG others(31): Show GAGAGGAGAGAGAGAGAGAGAGAGAAAGAAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	280	0.0036	38	c.-39 others(49): Show c.-3903_-3902insAGAGGAGAGAGAGAGAGAGAGAGAAAGAAAAGAA AGAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3811		chr11	TogoVar
FADS2_chr11_61823300_61872354	61852280	A A	AGACAAGG others(31): Show AGACAAGGTCATGCTCTGTCACCTTGGCTAGAGCGTAGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	280	0.0036	38	c.744 others(55): Show c.744+3998_744+4035dupACAAGGTCATGCTCTGTCACCTTGGCTA GAGCGTAGTG	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50756364	A A	ACTCAAAC others(31): Show ACTCAAACTACGCCCTGATCGGCGCACTGCGAGCAGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02976.hp2 others(5): Show HG02109.hp2 HG02717.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0040 others(2): Show a0001c0001t0012 a0001c0001t0023 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042	a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 others(5): Show a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0023g0010 a0001c0001t0040g0008 a0001c0001t0041g0013 a0001c0001t0042g0009	8	190	0.0421	38	c.368 others(57): Show c.368-11590_368-11589insCCACTGCTCGCAGTGCGCCGATCAGG GCGTAGTTTGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0026 a0001c0001t0017g0026	1	190	0.0053	38	c.46- others(55): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18955.hp1 NA18957.hp2 others(4): Show HG02976.hp2 NA18955.hp1 NA18957.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0040	a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0039 others(4): Show a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0039 a0001c0001t0011g0038 a0001c0001t0017g0019 a0001c0001t0017g0034 a0001c0001t0040g0008	7	190	0.0368	38	c.46- others(55): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM107B_chr10_14513557_14779897	14760567	T T	TTTAAGCA others(31): Show TTTAAGCATATTGCTTAAAATATTAAAATTAACATTAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG03225.hp2 others(2): Show HG02486.hp2 HG03139.hp2 HG03225.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0176 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0005g0177	5	272	0.0184	38	c.411 others(57): Show c.411+13685_411+13686insTTTAATGTTAATTTTAATATTTTAAG CAATATGCTTAA	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	300	0.0033	38	c.-51 others(59): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT TTTTTTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	318	0.0031	38	c.215 others(57): Show c.2159+2335_2159+2336insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120A_chr9_93446685_93571112	93554120	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19087.hp1 NA18994.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0130 a0001c0002t0001g0266 a0001c0001t0002g0130 a0001c0002t0001g0266	2	318	0.0063	38	c.227 others(57): Show c.2275-2239_2275-2202dupACACACACACACACACACACACACAC ACACACACACAC	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170361242	A A	ATATATAT others(31): Show ATATATATATATACACGTATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG03516.hp1 others(1): Show HG02965.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0085 a0004c0005t0001g0086 a0004c0005t0001g0088 others(1): Show a0004c0005t0001g0085 a0004c0005t0001g0086 a0004c0005t0001g0088 a0004c0005t0001g0089	4	289	0.0138	38	c.228 others(57): Show c.2283+2937_2283+2938insACGTATATATATATATATATACGTGT ATATATATATAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394417	G G	GTGCCAGC others(31): Show GTGCCAGCACAAGGCCACGCCTCCGTGGACACCGCAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00738.hp2 others(16): Show HG00099.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02602.hp1 HG02647.hp1 HG03017.hp1 HG03139.hp2 HG03492.hp2 HG03516.hp2 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013	a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0004g0022 others(16): Show a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0069 a0001c0002t0004g0072 a0001c0002t0004g0104 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0013g0039 a0001c0002t0013g0040	19	289	0.0657	38	c.260 others(55): Show c.2600-908_2600-871dupAAGGCCACGCCTCCGTGGACACCGCAGC ATGCCAGCAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394440	C C	CGTGGACA others(31): Show CGTGGACACCGCAGCATGCCAGCACAAGGCCACGCCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02970.hp1 HG01099.hp1 HG02970.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0010 a0006c0010t0010	a0006c0010t0010g0019 a0006c0010t0010g0020 a0006c0010t0010g0019 a0006c0010t0010g0020	2	289	0.0069	38	c.260 others(57): Show c.2600-1010_2600-1009insTGTGGACACCGCAGCATGCCAGCACA AGGCCACGCCTC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394465	A A	AAGGCCAC others(31): Show AAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19084.hp1 NA18970.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0057 a0001c0002t0001g0058	2	289	0.0069	38	c.260 others(55): Show c.2600-985_2600-984insGAGGCCACGCCTCCGTGGACACCGCAGC ATGCCAGCAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394503	A A	AAGGCCAC others(31): Show AAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18944.hp1 NA18945.hp2 others(4): Show NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18979.hp2 NA18990.hp1 NA19066.hp1 NA19089.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0005 a0003c0004t0003g0166 a0003c0004t0003g0167 others(3): Show a0003c0004t0003g0005 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170	7	289	0.0242	38	c.260 others(55): Show c.2600-947_2600-946insGAGGCCACGCCTCCGTGGACACCGCAGC ATGCCAGCAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170394579	A A	AAGGCCAC others(31): Show AAGGCCACGCCTCCGTGGACACCGCAGCATGCCAGCACG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02970.hp1 NA18968.hp2 HG01099.hp1 HG02970.hp1 NA18968.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0010 a0002c0003 a0006c0010	a0002c0003t0002 a0006c0010t0010 a0002c0003t0002 a0006c0010t0010	a0002c0003t0002g0137 a0006c0010t0010g0019 a0006c0010t0010g0020 a0002c0003t0002g0137 a0006c0010t0010g0019 a0006c0010t0010g0020	3	289	0.0104	38	c.260 others(55): Show c.2600-839_2600-802dupCCAGCACGAGGCCACGCCTCCGTGGACA CCGCAGCATG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399986	A A	AGGAAGGT others(31): Show AGGAAGGTAGAACTATGTCATAACCCTTAGGATGAGTGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01981.hp1 others(47): Show HG00558.hp1 HG00673.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18983.hp2 NA18998.hp2 NA19001.hp1 NA19009.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0002 a0001c0017 a0002c0003 others(2): Show a0001c0002 a0001c0017 a0002c0003 a0007c0012 a0011c0011	a0001c0002t0001 a0001c0002t0011 a0001c0017t0001 others(3): Show a0001c0002t0001 a0001c0002t0011 a0001c0017t0001 a0002c0003t0001 a0007c0012t0001 a0011c0011t0001	a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0014 others(46): Show a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0011g0016 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0017t0001g0080 a0002c0003t0001g0134 a0007c0012t0001g0052 a0011c0011t0001g0129	50	289	0.1730	38	c.269 others(57): Show c.2692+4430_2692+4431insCCTTAGGATGAGTGGGGAAGGTAGAA CTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170400063	G G	GGGGAAGG others(31): Show GGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	289	0.0035	38	c.269 others(57): Show c.2693-4464_2693-4463insCTCTTAGGAGTGAGTGGGAAGGTAGA ACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM13A_chr4_88720960_89062185	89061579	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0063 a0002c0004t0031g0063	1	208	0.0048	38	c.-46 others(49): Show c.-4616_-4615insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4395		chr4	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	204	0.0049	38	c.508 others(55): Show c.508-3070_508-3069insATATATATTTATATATATATATATATAT ATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03831.hp2 HG02683.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0119 a0001c0001t0002g0074 a0001c0001t0002g0119	2	204	0.0098	38	c.508 others(55): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186116332	A A	AAATGCAG others(31): Show AAATGCAGAAATCTCCCGTCTTCTGTGTCACTCACGCTG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0056 a0005c0006t0007g0056	1	390	0.0026	38	c.566 others(57): Show c.566+10702_566+10703insTCCCGTCTTCTGTGTCACTCACGCTG AATGCAGAAATC	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0347 a0001c0001t0004g0347	1	390	0.0026	38	c.567 others(57): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATAT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(31): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0020 a0020	a0020c0043 a0020c0043	a0020c0043t0036 a0020c0043t0036	a0020c0043t0036g0141 a0020c0043t0036g0141	1	390	0.0026	38	c.567 others(57): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(31): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0083 a0002c0004t0083	a0002c0004t0083g0146 a0002c0004t0083g0146	1	390	0.0026	38	c.567 others(57): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03669.hp2 NA19054.hp2 others(1): Show HG02896.hp1 HG03669.hp2 NA19054.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0228 a0002c0002t0002g0272 others(1): Show a0002c0002t0002g0216 a0002c0002t0002g0228 a0002c0002t0002g0272 a0002c0002t0002g0274	4	400	0.0100	38	c.30 others(49): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT ATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar

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