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
FBLN1_chr22_45497883_45606135	45555272	A A	AATATATA others(29): Show AATATATATATATATATATATATATATAAAATGGAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	346	0.0029	36	c.169 others(55): Show c.1697+4676_1697+4677insTATATATAAAATGGAATATATATATA TATATATATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	288	0.0035	36	c.538 others(55): Show c.538+28233_538+28234insTCTTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48568049	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0282 a0001c0002t0002g0282	1	288	0.0035	36	c.538 others(55): Show c.538+28233_538+28234insTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	6/65			chr15	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(29): Show GTATATATATATATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01256.hp1 HG01981.hp2 HG02258.hp1 HG02922.hp1 NA19077.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0037 others(5): Show a0001c0001 a0001c0003 a0002c0037 a0002c0059 a0003c0007 a0003c0012 a0003c0062 a0008c0042	a0001c0001t0002 a0001c0003t0006 a0002c0037t0023 others(5): Show a0001c0001t0002 a0001c0003t0006 a0002c0037t0023 a0002c0059t0005 a0003c0007t0006 a0003c0012t0001 a0003c0062t0007 a0008c0042t0012	a0001c0001t0002g0077 a0001c0003t0006g0060 a0002c0037t0023g0034 others(6): Show a0001c0001t0002g0077 a0001c0003t0006g0060 a0002c0037t0023g0034 a0002c0059t0005g0092 a0003c0007t0006g0055 a0003c0007t0006g0056 a0003c0012t0001g0138 a0003c0062t0007g0137 a0008c0042t0012g0054	9	236	0.0381	36	c.952 others(55): Show c.952+12086_952+12087insTATATATATATATATATATATACATA TATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128434394	G G	GTATATAT others(29): Show GTATATATATATATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	236	0.0042	36	c.952 others(55): Show c.952+12086_952+12087insTATATATATATATATATATACACATA TATATATATA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	7/64			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(29): Show CATATATCATATATATCATATATATCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(8): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG03927.hp1 HG04115.hp2 NA19065.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0012 a0010c0020	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0012t0001 a0010c0020t0001	a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0003t0001g0185 a0002c0002t0001g0168 a0003c0012t0001g0187 a0010c0020t0001g0151	11	236	0.0466	36	c.-23 others(47): Show c.-2364_-2329dupATGATATATATGATATATATGATATATATGATAT AT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539984	A A	ATATATAT others(29): Show ATATATATCATATATATCATATATATCATATATATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	236	0.0042	36	c.-23 others(47): Show c.-2382_-2381insCGATATATATGATATATATGATATATATGATATA TA	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1740		chr5	TogoVar
FBN2_chr5_128252909_128543245	128540058	C C	CATATATA others(29): Show CATATATATCATATATCATATATATCAATCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0004 a0003c0044t0004	a0003c0044t0004g0053 a0003c0044t0004g0053	1	236	0.0042	36	c.-24 others(47): Show c.-2456_-2455insTATATATGATTGATATATATGATATATGATATAT AT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1814		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0039 a0039	a0039c0049 a0039c0049	a0039c0049t0001 a0039c0049t0001	a0039c0049t0001g0203 a0039c0049t0001g0204 a0039c0049t0001g0203 a0039c0049t0001g0204	2	380	0.0053	36	c.204 others(53): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTCCTTCCTTCCTTC CTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0028 a0028	a0028c0035 a0028c0035	a0028c0035t0001 a0028c0035t0001	a0028c0035t0001g0127 a0028c0035t0001g0127	1	380	0.0026	36	c.204 others(53): Show c.2044+598_2044+599insTCCTTTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0060 a0004c0008t0002g0060	1	380	0.0026	36	c.204 others(53): Show c.2044+595_2044+596insCTTTCCTTTCCCTTCCTTCCTTCCTTCC TTCCTTCC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBXL17_chr5_107854035_108387098	107871057	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0184 a0001c0001t0054g0184	1	244	0.0041	36	c.196 others(55): Show c.1966-9198_1966-9197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	8/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02257.hp2 HG01069.hp1 HG01071.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0134 a0001c0001t0002g0146 a0001c0001t0001g0097 a0001c0001t0002g0134 a0001c0001t0002g0146	3	244	0.0123	36	c.182 others(57): Show c.1822+40260_1822+40261insAAAAAAAAAATATATATATATATA TATATATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009193	G G	GCATATAT others(29): Show GCATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	244	0.0041	36	c.182 others(57): Show c.1822+11696_1822+11731dupTATATATATATATATATATATATA TATATATATATG	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009196	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0238 a0001c0004t0030g0238	1	244	0.0041	36	c.182 others(57): Show c.1822+11728_1822+11729insGTATGTATATATATATATATATAT ATATATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009296	T T	TATAGATA others(29): Show TATAGATAGATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	244	0.0041	36	c.182 others(57): Show c.1822+11628_1822+11629insCTATCTATCTATCTATCTATCTAT CTATCTATCTAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	244	0.0041	36	c.182 others(57): Show c.1822+11616_1822+11617insGTGTATATATCTATCTATCTATCT ATCTATCTATCT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18986.hp2 NA19066.hp1 NA18945.hp2 NA18986.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0048 a0001c0001t0001 a0001c0001t0003 a0001c0001t0048	a0001c0001t0001g0207 a0001c0001t0003g0137 a0001c0001t0048g0071 a0001c0001t0001g0207 a0001c0001t0003g0137 a0001c0001t0048g0071	3	244	0.0123	36	c.182 others(57): Show c.1822+11616_1822+11617insGTGTGTATATATATATATCTATCT ATCTATCTATCT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TATATAGA others(29): Show TATATAGATAGATAGATAGATAGATAGATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0051 a0004c0006t0051	a0004c0006t0051g0074 a0004c0006t0051g0074	1	244	0.0041	36	c.182 others(57): Show c.1822+11616_1822+11617insGTGTATATATCTATCTATCTATCT ATCTATCTATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TATATAGA others(29): Show TATATAGATAGATAGATAGATAGATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	244	0.0041	36	c.182 others(57): Show c.1822+11616_1822+11617insGTGTGTATATATATCTATCTATCT ATCTATCTATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108009308	T T	TATATATA others(29): Show TATATATATATATATATATATAGATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0028 a0001c0001t0022g0028	1	244	0.0041	36	c.182 others(57): Show c.1822+11616_1822+11617insGTGTGTATATATATCTATATATAT ATATATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108154642	C C	CACACATA others(29): Show CACACATATGTATATACATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20905.hp1 HG01496.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0165 a0001c0001t0012g0045 a0001c0001t0002g0165 a0001c0001t0012g0045	2	244	0.0082	36	c.174 others(57): Show c.1745+31474_1745+31475insATATATATACACATATATATGTAT ATACATATGTGT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108177932	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp2 NA18994.hp1 HG00741.hp2 HG02300.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0003g0147 a0001c0001t0005g0136 a0001c0001t0001g0088 a0001c0001t0003g0147 a0001c0001t0005g0136	3	244	0.0123	36	c.174 others(55): Show c.1745+8184_1745+8185insGTGTATATATATATATATATATATAT ATATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	6/8			chr5	TogoVar
FBXL17_chr5_107854035_108387098	108232782	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02717.hp1 HG00738.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0040 a0001c0001t0014 a0001c0001t0040	a0001c0001t0014g0063 a0001c0001t0040g0046 a0001c0001t0014g0063 a0001c0001t0040g0046	2	244	0.0082	36	c.150 others(55): Show c.1507-8555_1507-8554insATATATATATATATATATATATATAT ATATATATAT	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	4/8			chr5	TogoVar
FBXL20_chr17_39247663_39406626	39249309	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0004 a0001c0001t0016g0004	1	230	0.0044	36	c.12 others(49): Show c.12150_*12151insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	FBXL20	ENSG00000108306.13	transcript	ENST00000264658.11	protein_coding		3353		chr17	TogoVar
FBXL20_chr17_39247663_39406626	39315393	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	230	0.0044	36	c.105 others(55): Show c.105-11755_105-11754insTATATATATATATATATATATATATA TATATATATA	FBXL20	ENSG00000108306.13	transcript	ENST00000264658.11	protein_coding	2/14			chr17	TogoVar
FBXO31_chr16_87321987_87388776	87365007	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	376	0.0027	36	c.341 others(53): Show c.341-4642_341-4641insTATATATATATATATATATATATATATA TATATATA	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO31_chr16_87321987_87388776	87365010	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG02071.hp2 HG02818.hp1 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG04228.hp1 NA18975.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0039 a0001c0001t0063 a0001c0003t0009	a0001c0001t0001g0130 a0001c0001t0002g0021 a0001c0001t0002g0238 others(12): Show a0001c0001t0001g0130 a0001c0001t0002g0021 a0001c0001t0002g0238 a0001c0001t0003g0141 a0001c0001t0004g0154 a0001c0001t0004g0159 a0001c0001t0004g0237 a0001c0001t0004g0287 a0001c0001t0004g0330 a0001c0001t0005g0104 a0001c0001t0008g0310 a0001c0001t0009g0005 a0001c0001t0039g0269 a0001c0001t0063g0082 a0001c0003t0009g0008	16	376	0.0426	36	c.341 others(53): Show c.341-4645_341-4644insATATATATATATATATATATATATATAT ATATATAT	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO31_chr16_87321987_87388776	87365039	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	376	0.0027	36	c.341 others(53): Show c.341-4674_341-4673insCATATATATATATATATATATATATATA TATATATA	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG03209.hp2 HG01884.hp1 HG02965.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0310 a0001c0001t0007g0316 a0001c0001t0007g0319 a0001c0001t0007g0310 a0001c0001t0007g0316 a0001c0001t0007g0319	3	334	0.0090	36	c.-10 others(55): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT ATATTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55323225	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0318 a0001c0001t0007g0318	1	334	0.0030	36	c.-10 others(55): Show c.-10-27155_-10-27154insATATATATATATATATATATATATAT ATTTTTTTTT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331729	G G	GTATATAT others(29): Show GTATATATATATGTGTGTATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	334	0.0030	36	c.-10 others(55): Show c.-10-18640_-10-18605dupGTGTGTATATATATATATATGTATAT ATATATATAT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO39_chr17_6771215_6792646	6784953	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	456	0.0022	36	c.102 others(55): Show c.1024-1826_1024-1825insGTGTGTATATATATATATATATATAT ATATATATAT	FBXO39	ENSG00000177294.7	transcript	ENST00000321535.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
FBXO39_chr17_6771215_6792646	6784953	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	2	456	0.0044	36	c.102 others(55): Show c.1024-1826_1024-1825insGTGTGTGTGTGTATATATATATATAT ATATATATAT	FBXO39	ENSG00000177294.7	transcript	ENST00000321535.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
FBXO42_chr1_16241840_16357480	16326038	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19088.hp2 NA18953.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0024 a0002c0003t0003g0056 a0002c0003t0003g0024 a0002c0003t0003g0056	2	294	0.0068	36	c.-17 others(55): Show c.-17-10604_-17-10603insGACACACACACACACACACACACACA CACACACACA	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXO42_chr1_16241840_16357480	16350757	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0018 a0002c0003t0006 a0001c0001t0018 a0002c0003t0006	a0001c0001t0018g0069 a0002c0003t0006g0265 a0001c0001t0018g0069 a0002c0003t0006g0265	2	294	0.0068	36	c.-18 others(53): Show c.-18+1462_-18+1497dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	FBXO42	ENSG00000037637.11	transcript	ENST00000375592.8	protein_coding	1/9			chr1	TogoVar
FBXW10_chr17_18739054_18784349	18748428	A A	AAAAAGAA others(29): Show AAAAAGAAAGCCAATATGCAACCAATGTGAGATTGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0004 a0008c0008t0004	a0008c0008t0004g0130 a0008c0008t0004g0130	1	386	0.0026	36	c.670 others(51): Show c.670+326_670+361dupAAGAAAGCCAATATGCAACCAATGTGAGAT TGGGAA	FBXW10	ENSG00000171931.13	transcript	ENST00000395665.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
FBXW10_chr17_18739054_18784349	18768026	T T	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0036 a0007c0007t0003g0036	1	386	0.0026	36	c.170 others(53): Show c.1705-480_1705-479insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	FBXW10	ENSG00000171931.13	transcript	ENST00000395665.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01255.hp1 others(2): Show HG01081.hp1 HG01243.hp1 HG01255.hp1 HG02280.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0168 a0001c0001t0001g0209 a0001c0001t0001g0253 others(2): Show a0001c0001t0001g0168 a0001c0001t0001g0209 a0001c0001t0001g0253 a0001c0001t0001g0265 a0002c0005t0001g0004	5	290	0.0172	36	c.-93 others(45): Show c.-935_-934insACACACACACACACACACACACACACACACACACAC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FCN1_chr9_134898232_134922912	134905793	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG00280.hp2 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0265 a0001c0003t0271 a0001c0003t0265 a0001c0003t0271	a0001c0003t0265g0347 a0001c0003t0271g0326 a0001c0003t0265g0347 a0001c0003t0271g0326	2	434	0.0046	36	c.40 others(47): Show c.4004_*4005insGAGAAGAAGCAGCAGCAGCAGCAGCAGCAGCAGC AG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	4004		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG03239.hp1 HG03710.hp1 others(6): Show HG00323.hp1 HG03239.hp1 HG03710.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18981.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0001t0047 a0001c0001t0203 others(4): Show a0001c0001t0043 a0001c0001t0047 a0001c0001t0203 a0001c0001t0224 a0001c0001t0232 a0001c0001t0247 a0001c0002t0116	a0001c0001t0043g0078 a0001c0001t0043g0236 a0001c0001t0047g0023 others(5): Show a0001c0001t0043g0078 a0001c0001t0043g0236 a0001c0001t0047g0023 a0001c0001t0203g0060 a0001c0001t0224g0065 a0001c0001t0232g0111 a0001c0001t0247g0122 a0001c0002t0116g0179	9	434	0.0207	36	c.39 others(47): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905822	T T	TTCTTCTT others(29): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp2 NA18982.hp2 NA18973.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0102 a0001c0001t0050g0131 a0001c0001t0050g0102 a0001c0001t0050g0131	2	434	0.0046	36	c.39 others(47): Show c.3975_*3976insGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3975		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905822	T T	TTCTTCTT others(29): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18943.hp2 NA18988.hp1 NA18612.hp2 NA18943.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0214 a0001c0001t0233 a0001c0001t0176 a0001c0001t0214 a0001c0001t0233	a0001c0001t0176g0125 a0001c0001t0214g0127 a0001c0001t0233g0132 a0001c0001t0176g0125 a0001c0001t0214g0127 a0001c0001t0233g0132	3	434	0.0069	36	c.39 others(47): Show c.3975_*3976insGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3975		chr9	TogoVar
FDX1_chr11_110424948_110469884	110444672	A A	ATATATAT others(29): Show ATATATATATATATACACGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	400	0.0025	36	c.310 others(53): Show c.310+8726_310+8727insTACACGTATATATATATATACGTGTATA TATATATA	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FDX1_chr11_110424948_110469884	110444685	C C	CACGTATA others(29): Show CACGTATATATATATATATACGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG02818.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	400	0.0050	36	c.310 others(53): Show c.310+8747_310+8782dupCGTATATATATATATATACGTATATATA TATATATA	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FER_chr5_108742897_109201841	108844108	A A	ATGTGTGT others(29): Show ATGTGTGTGAACACATATATGTGTGTGAACATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02970.hp1 others(3): Show HG01891.hp1 HG02145.hp2 HG02970.hp1 HG02976.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0032 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0032 a0001c0001t0037 a0001c0001t0046 a0001c0004t0009	a0001c0001t0001g0085 a0001c0001t0005g0087 a0001c0001t0032g0116 others(3): Show a0001c0001t0001g0085 a0001c0001t0005g0087 a0001c0001t0032g0116 a0001c0001t0037g0088 a0001c0001t0046g0086 a0001c0004t0009g0117	6	138	0.0435	36	c.481 others(53): Show c.481+8314_481+8349dupCATATATGTGTGTGAACATATATGTGTG TGTGAACA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGD4_chr12_32394558_32651050	32599494	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0024 a0001c0004t0002g0024	1	232	0.0043	36	c.110 others(53): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD6_chr12_95071749_95222467	95083012	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0124 a0001c0001t0016g0124	1	384	0.0026	36	c.425 others(55): Show c.4257-1457_4257-1456insATATATATATATATATATATATATAT ATTTTTTTTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	20/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95121462	A A	AAAAGATA others(29): Show AAAAGATATATATATATATATATGTGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0064 a0001c0012t0064	a0001c0012t0064g0212 a0001c0012t0064g0212	1	384	0.0026	36	c.308 others(55): Show c.3083-7762_3083-7761insATATATATACACACATATATATATAT ATATATCTTT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	8/20			chr12	TogoVar
FGD6_chr12_95071749_95222467	95121479	A A	ATATGTGT others(29): Show ATATGTGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0207 a0001c0012t0005g0207	1	384	0.0026	36	c.308 others(55): Show c.3083-7779_3083-7778insCATATATATATATATATATATATATA TACACACATA	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	8/20			chr12	TogoVar

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