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
FAM236B_chrX_72776865_72787660	72787612	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	110	0.0091	-14	c.-50 others(25): Show c.-5066_-5053delGAGAGAGAGAGAGA	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4953		chrX	TogoVar
FAM240A_chr3_46607525_46631543	46618870	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02486.hp1 others(3): Show HG01884.hp2 HG02258.hp2 HG02486.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0157 others(3): Show a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0157 a0001c0001t0004g0301 a0001c0001t0016g0261 a0001c0001t0016g0262	6	438	0.0137	-14	c.161 others(31): Show c.161+1544_161+1557delTATATATATATACA	FAM240A	ENSG00000283473.5	transcript	ENST00000640551.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM240A_chr3_46607525_46631543	46618876	TATATATA others(7): Show TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp2 NA19007.hp1 others(2): Show NA18951.hp1 NA19000.hp2 NA19007.hp1 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0218 a0001c0001t0003g0268 others(1): Show a0001c0001t0003g0053 a0001c0001t0003g0218 a0001c0001t0003g0268 a0001c0001t0003g0269	5	438	0.0114	-14	c.161 others(31): Show c.161+1550_161+1563delTATATACACACACA	FAM240A	ENSG00000283473.5	transcript	ENST00000640551.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM240A_chr3_46607525_46631543	46618878	TATATACA others(7): Show TATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	438	0.0023	-14	c.161 others(31): Show c.161+1552_161+1565delTATACACACACACA	FAM240A	ENSG00000283473.5	transcript	ENST00000640551.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM240B_chr9_38689266_38725133	38711607	TTCTTTCT others(7): Show TTCTTTCTCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02965.hp2 others(1): Show HG01109.hp1 HG01243.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0347 a0001c0001t0002g0348 others(1): Show a0001c0001t0001g0220 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0358	4	466	0.0086	-14	c.-3- others(29): Show c.-3-7619_-3-7606delGGGAGAGAGAAAGA	FAM240B	ENSG00000283329.2	transcript	ENST00000637493.2	protein_coding	1/2			chr9	TogoVar
FAM3A_chrX_154501171_154521232	154505372	AAAGGAAT others(7): Show AAAGGAATGGAATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0051 a0001c0001t0009g0051	1	339	0.0030	-14	c.14 others(25): Show c.1425_*1438delGTATTCCATTCCTT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		798		chrX	TogoVar
FAM3B_chr21_41311801_41362727	41343367	ATCTTTAA others(7): Show ATCTTTAACAACAAC	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	314	0.0032	-14	c.288 others(31): Show c.288-1108_288-1095delTCTTTAACAACAAC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding	3/7			chr21	TogoVar
FAM3B_chr21_41311801_41362727	41356036	TACATACA others(7): Show TACATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	314	0.0032	-14	c.619 others(31): Show c.619-1068_619-1055delTACACACACACACA	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAM43B_chr1_20547573_20560020	20550649	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA18939.hp2 HG02895.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	464	0.0043	-14	c.-23 others(25): Show c.-2324_-2311delAAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM43B_chr1_20547573_20560020	20559688	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18944.hp1 NA19065.hp2 NA18939.hp1 NA18944.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	464	0.0065	-14	c.57 others(25): Show c.5726_*5739delGTGTGTGTGTGTGT	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		4669		chr1	TogoVar
FAM47E_chr4_76246721_76288783	76276033	GACAGACA others(7): Show GACAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp2 NA18906.hp2 others(1): Show NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0103 a0003c0003t0001g0187 a0003c0003t0001g0040 a0003c0003t0001g0103 a0003c0003t0001g0187	4	392	0.0102	-14	c.871 others(31): Show c.871-2032_871-2019delGACACACACACACA	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM50A_chrX_154439141_154455654	154446351	GGAAGGGG others(7): Show GGAAGGGGCTGGGTC	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0049 a0003c0004t0009g0049	1	275	0.0036	-14	c.297 others(27): Show c.297-63_297-50delGAAGGGGCTGGGTC	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding	3/12			chrX	TogoVar
FAM53A_chr4_1634887_1689313	1687805	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0010 a0011c0012t0010	a0011c0012t0010g0038 a0011c0012t0010g0038	1	350	0.0029	-14	c.-37 others(25): Show c.-3751_-3738delAAAAAAAAAAAAAA	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding		3493		chr4	TogoVar
FAM53B_chr10_124614292_124749378	124657052	GTATATAT others(7): Show GTATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	330	0.0030	-14	c.906 others(33): Show c.906+24541_906+24554delTATATACATATATA	FAM53B	ENSG00000189319.14	transcript	ENST00000337318.8	protein_coding	4/4			chr10	TogoVar
FAM53C_chr5_138333266_138354729	138339601	ATCCTGCA others(7): Show ATCCTGCACTTAGGT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	432	0.0023	-14	c.-15 others(33): Show c.-153+1298_-153+1311delTGCACTTAGGTTCC	FAM53C	ENSG00000120709.11	transcript	ENST00000239906.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM78A_chr9_131253078_131281510	131256257	TACACACA others(7): Show TACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01258.hp2 others(33): Show HG00639.hp2 HG00741.hp2 HG01258.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 NA18948.hp2 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19075.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0025 a0001c0001t0031 a0001c0007t0037	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0050 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0098 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0010g0048 a0001c0001t0010g0178 a0001c0001t0011g0270 a0001c0001t0025g0118 a0001c0001t0031g0248 a0001c0007t0037g0276	36	418	0.0861	-14	c.45 others(25): Show c.4551_*4564delGTGTGTGTGTGTGT	FAM78A	ENSG00000126882.14	transcript	ENST00000372271.4	protein_coding		1820		chr9	TogoVar
FAM78B_chr1_166064299_166172001	166077881	TATAATAA others(7): Show TATAATAAATATATA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	318	0.0031	-14	c.264 others(31): Show c.264-7132_264-7119delTATATATTTATTAT	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166077948	TTATATAT others(7): Show TTATATATATAATTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	318	0.0063	-14	c.264 others(31): Show c.264-7199_264-7186delTAATTATATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM81A_chr15_59433186_59528555	59497637	CTTGAGGC others(7): Show CTTGAGGCCAGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02145.hp1 others(17): Show HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0002t0015	a0001c0001t0001g0234 a0001c0002t0001g0011 a0001c0002t0003g0139 others(17): Show a0001c0001t0001g0234 a0001c0002t0001g0011 a0001c0002t0003g0139 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0271 a0001c0002t0005g0236 a0001c0002t0005g0273 a0001c0002t0005g0274 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0359 a0001c0002t0007g0138 a0001c0002t0007g0180 a0001c0002t0007g0229 a0001c0002t0014g0140 a0001c0002t0015g0227	20	374	0.0535	-14	c.413 others(31): Show c.413+5282_413+5295delGCCAGGAGTTTGAG	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM81A_chr15_59433186_59528555	59523582	AGTCTTTC others(7): Show AGTCTTTCAGTGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0166 a0001c0001t0016g0166	1	374	0.0027	-14	c.22 others(25): Show c.2205_*2218delGTCTTTCAGTGTTG	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		28		chr15	TogoVar
FAM81B_chr5_95386366_95455441	95439236	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02165.hp1 NA18960.hp2 others(9): Show HG00597.hp2 HG02165.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18998.hp1 NA19054.hp1 NA19075.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0072 a0001c0001t0002g0197 others(9): Show a0001c0001t0002g0037 a0001c0001t0002g0072 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0002g0297 a0001c0001t0002g0308 a0001c0001t0002g0334	12	348	0.0345	-14	c.893 others(31): Show c.893+2346_893+2359delATATATATATATAT	FAM81B	ENSG00000153347.10	transcript	ENST00000283357.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM83B_chr6_54841771_54950099	54876278	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0004c0014 a0002c0005 a0004c0014	a0002c0005t0019 a0004c0014t0002 a0002c0005t0019 a0004c0014t0002	a0002c0005t0019g0241 a0002c0005t0019g0242 a0004c0014t0002g0143 others(1): Show a0002c0005t0019g0241 a0002c0005t0019g0242 a0004c0014t0002g0143 a0004c0014t0002g0144	4	272	0.0147	-14	c.444 others(31): Show c.444+5617_444+5630delATATATATATATAT	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM83E_chr19_48594961_48620076	48595653	GGGTTTTT others(7): Show GGGTTTTTTTTTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0010 a0003c0002t0010	a0003c0002t0010g0072 a0003c0002t0010g0072	1	414	0.0024	-14	c.54 others(25): Show c.5442_*5455delAACAAAAAAAAACC	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding		4307		chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 NA18959.hp2 others(2): Show HG01243.hp2 HG02109.hp1 NA18959.hp2 NA18982.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 others(1): Show a0001c0003 a0001c0004 a0001c0007 a0001c0008	a0001c0003t0002 a0001c0004t0007 a0001c0007t0023 others(1): Show a0001c0003t0002 a0001c0004t0007 a0001c0007t0023 a0001c0008t0002	a0001c0003t0002g0163 a0001c0004t0007g0022 a0001c0007t0023g0177 others(2): Show a0001c0003t0002g0163 a0001c0004t0007g0022 a0001c0007t0023g0177 a0001c0008t0002g0039 a0001c0008t0002g0040	5	414	0.0121	-14	c.117 others(31): Show c.1176+776_1176+789delATATATATATATAT	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83F_chr22_39989954_40048534	40029078	GACGTGTG others(7): Show GACGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp1 HG02622.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0135 a0001c0001t0029g0136 a0001c0001t0029g0135 a0001c0001t0029g0136	2	234	0.0086	-14	c.145 others(31): Show c.1454-437_1454-424delACGTGTGTGTGTGT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	4/4			chr22	TogoVar
FAM83F_chr22_39989954_40048534	40029080	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02074.hp2 others(10): Show HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG03041.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp2 NA18969.hp2 NA19000.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0055 a0001c0001t0056 a0001c0001t0090 a0001c0009t0046	a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0004g0023 others(10): Show a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0004g0023 a0001c0001t0004g0072 a0001c0001t0006g0071 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0055g0081 a0001c0001t0056g0046 a0001c0001t0090g0021 a0001c0009t0046g0127	13	234	0.0556	-14	c.145 others(31): Show c.1454-396_1454-383delTGTGTGTGTGTGTG	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40031713	AAGGCAGG others(7): Show AAGGCAGGAGTGCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG03195.hp2 NA19030.hp2 HG02886.hp2 HG03195.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0013 a0001c0001 a0001c0009 a0005c0013	a0001c0001t0047 a0001c0009t0046 a0005c0013t0045 a0001c0001t0047 a0001c0009t0046 a0005c0013t0045	a0001c0001t0047g0090 a0001c0009t0046g0127 a0005c0013t0045g0132 a0001c0001t0047g0090 a0001c0009t0046g0127 a0005c0013t0045g0132	3	234	0.0128	-14	c.21 others(25): Show c.2156_*2169delAGTGCCCAGGCAGG	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	5/5	2156	INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83G_chr17_18963789_19009764	18968930	GTCTCCCC others(7): Show GTCTCCCCTCCTTAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0229 a0002c0002t0022g0229	1	378	0.0027	-14	c.24 others(25): Show c.2415_*2428delATAAGGAGGGGAGA	FAM83G	ENSG00000188522.16	transcript	ENST00000388995.11	protein_coding	6/6	2415		chr17	TogoVar
FAM90A1_chr12_8216260_8232618	8220318	ACTTTGCC others(7): Show ACTTTGCCCCAGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0080 a0002c0002t0003g0080	1	466	0.0022	-14	c.14 others(25): Show c.1490_*1503delCGGCTGGGGCAAAG	FAM90A1	ENSG00000171847.11	transcript	ENST00000538603.6	protein_coding		941		chr12	TogoVar
FAM91A1_chr8_123763439_123820452	123804490	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	2	338	0.0059	-14	c.181 others(31): Show c.1810-759_1810-746delAAAAAAAAAAAAAA	FAM91A1	ENSG00000176853.16	transcript	ENST00000334705.12	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM9B_chrX_9019232_9039127	9021425	ATATATTA others(7): Show ATATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	-14	c.39 others(25): Show c.3970_*3983delATATATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2806		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9021462	ATATATTA others(7): Show ATATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG04228.hp1 HG02698.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	258	0.0078	-14	c.39 others(25): Show c.3933_*3946delATATATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2769		chrX	TogoVar
FANCA_chr16_89732549_89821647	89759318	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0258 a0004c0004t0002g0258	1	334	0.0030	-14	c.285 others(31): Show c.2853-627_2853-614delTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95317306	ACCTTCCG others(7): Show ACCTTCCGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02723.hp2 others(2): Show HG01081.hp1 HG01243.hp2 HG02723.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0028 a0001c0001t0001 a0001c0001t0006 a0001c0001t0028	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0006g0270 a0001c0001t0028g0271	5	278	0.0180	-14	c.-79 others(29): Show c.-79+206_-79+219delCGGGAGGCGGAAGG	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCD2OS_chr3_10098937_10113255	10105763	AAAAAAAA others(7): Show AAAAAAAAATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	346	0.0029	-14	c.-8- others(27): Show c.-8-995_-8-982delATATAATTTTTTTT	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/1			chr3	TogoVar
FANCD2OS_chr3_10098937_10113255	10105772	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18995.hp1 HG02735.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	346	0.0058	-14	c.-8- others(28): Show c.-8-1004_-8-991delTATATATATATATA	FANCD2OS	ENSG00000163705.13	transcript	ENST00000450660.3	protein_coding	1/1			chr3	TogoVar
FANCD2_chr3_10021437_10106932	10033613	TGGGGGAG others(7): Show TGGGGGAGCAGATTA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	242	0.0041	-14	c.205 others(29): Show c.205+642_205+655delGGGGGAGCAGATTA	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	3/43			chr3	TogoVar
FANCD2_chr3_10021437_10106932	10054383	ATATATGT others(7): Show ATATATGTATATACG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18969.hp1 NA18979.hp1 others(1): Show HG03710.hp2 NA18969.hp1 NA18979.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0109	4	242	0.0165	-14	c.165 others(33): Show c.1656+1906_1656+1919delGTATATACGTATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10054425	ACATGTAT others(7): Show ACATGTATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	242	0.0041	-14	c.165 others(33): Show c.1656+1929_1656+1942delCATGTATATACATG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	18/43			chr3	TogoVar
FANCD2_chr3_10021437_10106932	10054436	CATGTATA others(7): Show CATGTATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp1 HG02257.hp2 others(4): Show HG00099.hp1 HG01891.hp1 HG02257.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 NA18906.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0007 a0001c0001 a0003c0004 a0007c0007	a0001c0001t0001 a0003c0004t0003 a0007c0007t0003 a0001c0001t0001 a0003c0004t0003 a0007c0007t0003	a0001c0001t0001g0077 a0003c0004t0003g0161 a0003c0004t0003g0163 others(4): Show a0001c0001t0001g0077 a0003c0004t0003g0161 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0168 a0007c0007t0003g0155	7	242	0.0289	-14	c.165 others(33): Show c.1656+1942_1656+1955delGTATATACATATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10105763	AAAAAAAA others(7): Show AAAAAAAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	242	0.0041	-14	c.45 others(25): Show c.4502_*4515delAAAAAAAATTATAT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding		3832		chr3	TogoVar
FANCI_chr15_89238979_89322131	89245334	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02717.hp2 HG03130.hp2 others(4): Show HG01168.hp2 HG02717.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0012 a0002c0002 a0001c0008 a0001c0012 a0002c0002	a0001c0008t0004 a0001c0012t0003 a0002c0002t0005 a0001c0008t0004 a0001c0012t0003 a0002c0002t0005	a0001c0008t0004g0079 a0001c0008t0004g0080 a0001c0008t0004g0081 others(4): Show a0001c0008t0004g0079 a0001c0008t0004g0080 a0001c0008t0004g0081 a0001c0008t0004g0085 a0001c0008t0004g0086 a0001c0012t0003g0084 a0002c0002t0005g0126	7	346	0.0202	-14	c.-20 others(31): Show c.-20+1324_-20+1337delTTTTTTTTTTTTTT	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCI_chr15_89238979_89322131	89313973	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0003 a0014c0025t0003	a0014c0025t0003g0017 a0014c0025t0003g0017	1	346	0.0029	-14	c.372 others(31): Show c.3721-622_3721-609delCACACACACACACA	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCL_chr2_58154247_58246325	58217166	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	390	0.0026	-14	c.374 others(31): Show c.374+4762_374+4775delTATATATATATATA	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217203	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19006.hp2 NA19088.hp1 HG03516.hp2 NA19006.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0036 a0001c0001t0001g0153 a0001c0001t0001g0159	3	390	0.0077	-14	c.374 others(31): Show c.374+4725_374+4738delGTATATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217205	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA20300.hp2 NA21309.hp1 NA18956.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0266 a0001c0002t0001g0244 a0001c0001t0001g0033 a0001c0001t0001g0266 a0001c0002t0001g0244	3	390	0.0077	-14	c.374 others(31): Show c.374+4723_374+4736delGTGTATATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217207	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	390	0.0026	-14	c.374 others(31): Show c.374+4721_374+4734delGTGTGTATATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217209	TATATATA others(7): Show TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp1 HG01256.hp2 HG02257.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0009 a0001c0002 a0007c0009	a0001c0002t0001 a0007c0009t0001 a0001c0002t0001 a0007c0009t0001	a0001c0002t0001g0243 a0007c0009t0001g0177 a0001c0002t0001g0243 a0007c0009t0001g0177	2	390	0.0051	-14	c.374 others(31): Show c.374+4719_374+4732delGTGTGTGTATATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217211	TATATACA others(7): Show TATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp2 HG02165.hp1 others(4): Show HG01496.hp1 HG02155.hp2 HG02165.hp1 NA18963.hp2 NA18982.hp1 NA19058.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0195 a0001c0002t0001g0212 others(4): Show a0001c0002t0001g0186 a0001c0002t0001g0195 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0223 a0001c0002t0001g0246 a0001c0002t0001g0258	7	390	0.0180	-14	c.374 others(31): Show c.374+4717_374+4730delGTGTGTGTGTATAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217213	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01952.hp2 HG01069.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	390	0.0051	-14	c.374 others(31): Show c.374+4715_374+4728delGTGTGTGTGTGTAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar

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