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
FAM133A_chrX_93669206_93717265	93679915	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02897.hp2 HG03704.hp2 HG01993.hp2 HG02897.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095	3	298	0.0101	-27	c.-19 others(46): Show c.-193+5180_-193+5206delTTTTTTTTTTTTTTTTTTTTTTTTTT T	FAM133A	ENSG00000179083.7	transcript	ENST00000683942.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM135B_chr8_138125023_138502261	138206099	TCCAGCAT others(20): Show TCCAGCATCACCTCCACCTACACACAGG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp1 others(41): Show HG00558.hp1 HG00558.hp2 HG00673.hp1 HG01071.hp1 HG01255.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0003 a0001c0004 a0001c0005 others(8): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0022 a0002c0002 a0002c0008 a0002c0029 a0003c0001 a0010c0027	a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 others(23): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0008 a0001c0005t0001 a0001c0005t0005 a0001c0006t0005 a0001c0007t0003 a0001c0022t0003 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012 a0002c0008t0001 a0002c0029t0001 a0003c0001t0002 a0003c0001t0004 a0003c0001t0013 a0003c0001t0017 a0003c0001t0021 a0003c0001t0025 a0003c0001t0035 a0010c0027t0001	a0001c0003t0003g0056 a0001c0003t0003g0077 a0001c0003t0003g0083 others(41): Show a0001c0003t0003g0056 a0001c0003t0003g0077 a0001c0003t0003g0083 a0001c0003t0010g0205 a0001c0003t0010g0208 a0001c0003t0018g0178 a0001c0003t0038g0207 a0001c0004t0001g0034 a0001c0004t0001g0071 a0001c0004t0001g0101 a0001c0004t0002g0150 a0001c0004t0005g0203 a0001c0004t0008g0128 a0001c0005t0001g0052 a0001c0005t0001g0057 a0001c0005t0005g0210 a0001c0006t0005g0187 a0001c0007t0003g0065 a0001c0022t0003g0011 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0005g0197 a0002c0002t0012g0124 a0002c0008t0001g0107 a0002c0029t0001g0010 a0003c0001t0002g0169 a0003c0001t0004g0012 a0003c0001t0013g0199 a0003c0001t0017g0172 a0003c0001t0017g0173 a0003c0001t0021g0212 a0003c0001t0025g0113 a0003c0001t0035g0153 a0010c0027t0001g0079	44	212	0.2076	-27	c.670 others(44): Show c.670-8457_670-8431delCCTGTGTGTAGGTGGAGGTGATGCTGG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FAM149B1_chr10_73163119_73249504	73204944	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	236	0.0042	-27	c.543 others(44): Show c.543-3649_543-3623delTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM163B_chr9_133572081_133614389	133590060	CCCTTCCC others(20): Show CCCTTCCCCTTCCCTTCCCCTTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	382	0.0026	-27	c.-23 others(44): Show c.-23-9841_-23-9815delAAGGGGAAGGGGAAGGGAAGGGGAAGG	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FAM171A2_chr17_44348215_44368853	44368126	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA19083.hp2 NA18982.hp1 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0001 a0001c0001t0001 a0004c0012t0001	a0001c0001t0001g0003 a0004c0012t0001g0102 a0001c0001t0001g0003 a0004c0012t0001g0102	2	416	0.0048	-27	c.-44 others(38): Show c.-4439_-4413delAAAAAAATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4274		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368128	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02056.hp2 HG02135.hp1 others(7): Show HG00438.hp2 HG02056.hp2 HG02135.hp1 HG02735.hp2 NA18940.hp2 NA18979.hp2 NA18997.hp2 NA19010.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0100 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0002g0077 a0001c0001t0005g0035 a0001c0002t0001g0087 a0002c0003t0001g0039	10	416	0.0240	-27	c.-44 others(38): Show c.-4441_-4415delAAAAAAAAATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4276		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368130	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01993.hp1 HG03239.hp2 others(3): Show HG00280.hp2 HG01993.hp1 HG03239.hp2 NA19004.hp1 NA19066.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0001c0001t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0080 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0008t0001g0090 a0002c0003t0001g0037	6	416	0.0144	-27	c.-44 others(38): Show c.-4443_-4417delAAAAAAAAAAATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4278		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368132	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	-27	c.-44 others(38): Show c.-4445_-4419delAAAAAAAAAAAAATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4280		chr17	TogoVar
FAM172A_chr5_93612725_94116663	93653511	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	126	0.0079	-27	c.110 others(48): Show c.1109-32409_1109-32383delTTTTTTTTTTTTTTTTTTTTTTTT TTT	FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	10/10			chr5	TogoVar
FAM174C_chr19_1270530_1284228	1282621	GGGGAGGA others(20): Show GGGGAGGAGGGAGGGAGGAGGGTGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0019 a0001c0009t0004g0019	1	254	0.0039	-27	c.38 others(38): Show c.3845_*3871delGGGAGGAGGGAGGGAGGAGGGTGTGAA	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3394		chr19	TogoVar
FAM178B_chr2_96870885_96991580	96905836	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0163 a0002c0002t0001g0154 a0002c0002t0001g0163	2	250	0.0080	-27	c.156 others(46): Show c.1563-3156_1563-3130delAAATATATATATATATATATATATAT A	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905838	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1 HG03710.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0180 a0002c0002t0001g0207 a0002c0002t0001g0208	3	250	0.0120	-27	c.156 others(46): Show c.1563-3158_1563-3132delAAAAATATATATATATATATATATAT A	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905844	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	250	0.0040	-27	c.156 others(46): Show c.1563-3164_1563-3138delAAAAAAAAAAATATATATATATATAT A	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905846	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0007 a0002c0010t0001g0007	1	250	0.0040	-27	c.156 others(46): Show c.1563-3166_1563-3140delAAAAAAAAAAAAATATATATATATAT A	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96958697	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18995.hp2 HG01192.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0219 a0002c0002t0001g0204 a0002c0002t0001g0219	2	250	0.0080	-27	c.887 others(44): Show c.887+1564_887+1590delTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	6/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96987178	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01361.hp2 others(6): Show HG00639.hp1 HG01070.hp2 HG01361.hp2 HG01993.hp2 HG02258.hp2 HG02559.hp1 HG02735.hp2 HG02738.hp2 HG03486.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0011 a0005c0006 others(1): Show a0001c0001 a0003c0011 a0005c0006 a0006c0007	a0001c0001t0001 a0003c0011t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0003c0011t0001 a0005c0006t0001 a0006c0007t0002	a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068 a0003c0011t0001g0246 a0005c0006t0001g0021 a0006c0007t0002g0115	9	250	0.0360	-27	c.-89 others(36): Show c.-892_-866delTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding		599		chr2	TogoVar
FAM184B_chr4_17624306_17786621	17632042	AATTTTTT others(20): Show AATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0050 a0021c0052t0050	a0021c0052t0050g0076 a0021c0052t0050g0076	1	238	0.0042	-27	c.46 others(36): Show c.463_*489delAAAAAAAAAAAAAAAAAAAAAAAAAAT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	18/18	463		chr4	TogoVar
FAM184B_chr4_17624306_17786621	17632043	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp1 others(14): Show HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0015 a0024	a0001c0029 a0003c0009 a0003c0018 others(7): Show a0001c0029 a0003c0009 a0003c0018 a0004c0010 a0004c0035 a0005c0028 a0005c0036 a0005c0042 a0015c0063 a0024c0037	a0001c0029t0005 a0003c0009t0005 a0003c0018t0005 others(7): Show a0001c0029t0005 a0003c0009t0005 a0003c0018t0005 a0004c0010t0006 a0004c0035t0006 a0005c0028t0006 a0005c0036t0053 a0005c0042t0006 a0015c0063t0054 a0024c0037t0052	a0001c0029t0005g0115 a0003c0009t0005g0009 a0003c0009t0005g0133 others(14): Show a0001c0029t0005g0115 a0003c0009t0005g0009 a0003c0009t0005g0133 a0003c0009t0005g0162 a0003c0009t0005g0195 a0003c0018t0005g0192 a0003c0018t0005g0196 a0004c0010t0006g0077 a0004c0010t0006g0107 a0004c0010t0006g0109 a0004c0010t0006g0165 a0004c0035t0006g0139 a0005c0028t0006g0191 a0005c0036t0053g0233 a0005c0042t0006g0093 a0015c0063t0054g0229 a0024c0037t0052g0094	17	238	0.0714	-27	c.46 others(36): Show c.462_*488delAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	18/18	462		chr4	TogoVar
FAM186A_chr12_50322309_50401609	50378562	ATATATAT others(20): Show ATATATATATATACACATATGTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18990.hp2 HG02155.hp1 NA18990.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0068 a0003c0003t0001g0213 a0001c0001t0001g0068 a0003c0003t0001g0213	2	332	0.0060	-27	c.193 others(46): Show c.193-15225_193-15199delCAATTTACATATGTGTATATATATAT A	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7			chr12	TogoVar
FAM187B_chr19_35219800_35233739	35219945	CCACCATG others(20): Show CCACCATGCCTGACTAATTTTTCGTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	-27	c.48 others(38): Show c.4853_*4879delAATACGAAAAATTAGTCAGGCATGGTG	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding		4854		chr19	TogoVar
FAM193A_chr4_2531647_2737573	2708364	ATCCACCC others(20): Show ATCCACCCATCTCGGCCTCCCAAAATGC	A A	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	330	0.0030	-27	c.437 others(46): Show c.4373-7657_4373-7631delCCACCCATCTCGGCCTCCCAAAATGC T	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM221B_chr9_35811391_35833732	35828320	AACAACAA others(20): Show AACAACAACAACAACTACTACTACTACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02109.hp2 HG02258.hp1 others(6): Show HG01074.hp1 HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG03209.hp1 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0182 a0001c0001t0003g0008 a0001c0001t0003g0182	9	422	0.0213	-27	c.-1+ others(40): Show c.-1+116_-1+142delAGTAGTAGTAGTAGTTGTTGTTGTTGT	FAM221B	ENSG00000204930.10	transcript	ENST00000423537.7	protein_coding	1/6			chr9	TogoVar
FAM227B_chr15_49321970_49625818	49489858	TTTTATAT others(20): Show TTTTATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02056.hp2 NA18986.hp2 HG01517.hp1 HG02056.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071	3	294	0.0102	-27	c.101 others(48): Show c.1012+18326_1012+18352delCTATATATATATATATATATATAT AAA	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM229B_chr6_112082591_112107790	112095634	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	418	0.0024	-27	c.-17 others(46): Show c.-175-1390_-175-1364delAAAAAAAAAACCAAAAAAAAAAAAAA A	FAM229B	ENSG00000203778.8	transcript	ENST00000368656.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM241B_chr10_69625247_69638596	69631991	ACCTCCCC others(20): Show ACCTCCCCAGATCTCCTTTCTCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp1 HG01081.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0031 a0001c0002t0002g0035	2	462	0.0043	-27	c.96+ others(40): Show c.96+163_96+189delTCTCCTTTCTCCAGGCGCCTCCCCAGA	FAM241B	ENSG00000171224.9	transcript	ENST00000373279.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAM3A_chrX_154501171_154521232	154505398	TCCTGGTG others(20): Show TCCTGGTGCAGAGGCAGGACTGGCATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0109 a0001c0001t0005g0103 a0001c0001t0005g0109	2	339	0.0059	-27	c.13 others(38): Show c.1386_*1412delTGATGCCAGTCCTGCCTCTGCACCAGG	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		772		chrX	TogoVar
FAM50A_chrX_154439141_154455654	154454336	AGGTCTTC others(20): Show AGGTCTTCTGGAAGTCAGTGTTATAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	275	0.0036	-27	c.39 others(38): Show c.3905_*3931delGGTCTTCTGGAAGTCAGTGTTATAAAG	FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding		3683		chrX	TogoVar
FAM72A_chr1_206181179_206207839	206202269	AGTGGAGT others(20): Show AGTGGAGTTTGAATTGGAGAGGAGGCAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0153 a0001c0001t0023g0153	1	346	0.0029	-27	c.-27 others(36): Show c.-271_-245delCTGCCTCCTCTCCAATTCAAACTCCAC	FAM72A	ENSG00000196550.11	transcript	ENST00000367128.8	protein_coding	1/4	245		chr1	TogoVar
FAM72B_chr1_121162646_121189340	121183734	AGTGGAGT others(20): Show AGTGGAGTTTGAATTGGAGAGGAGGCAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0184 a0002c0002t0016g0184	1	380	0.0026	-27	c.-27 others(36): Show c.-272_-246delCTGCCTCCTCTCCAATTCAAACTCCAC	FAM72B	ENSG00000188610.12	transcript	ENST00000369390.7	protein_coding	1/4	246		chr1	TogoVar
FAM72C_chr1_143950287_143976986	143971385	AGTGGAGT others(20): Show AGTGGAGTTTGAATTGGAGAGGAGGCAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0146 a0001c0001t0022g0146	1	248	0.0040	-27	c.-27 others(36): Show c.-271_-245delCTGCCTCCTCTCCAATTCAAACTCCAC	FAM72C	ENSG00000263513.6	transcript	ENST00000584486.6	protein_coding	1/4	245		chr1	TogoVar
FAM72D_chr1_145090974_145117696	145096564	CTTCAAAC others(20): Show CTTCAAACTCCACCTGCCTCCTCTCCAA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18939.hp1 NA18986.hp2 NA18990.hp1 others(1): Show NA18939.hp1 NA18986.hp2 NA18990.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0076 a0001c0001t0008g0141 a0001c0001t0008g0033 a0001c0001t0008g0076 a0001c0001t0008g0141	4	320	0.0125	-27	c.-27 others(36): Show c.-271_-245delCTGCCTCCTCTCCAATTCAAACTCCAC	FAM72D	ENSG00000215784.6	transcript	ENST00000400889.3	protein_coding	1/4	245	INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM83E_chr19_48594961_48620076	48602705	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0316 a0002c0001t0008g0316	1	414	0.0024	-27	c.117 others(44): Show c.1176+762_1176+788delATATATATATATATATATATATATATA	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83F_chr22_39989954_40048534	40007553	CTCCTCTC others(20): Show CTCCTCTCCTCTCCTCCTCCTCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp2 HG02074.hp1 others(2): Show HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0059 a0002c0002t0067 a0002c0002t0014 a0002c0002t0059 a0002c0002t0067	a0002c0002t0014g0168 a0002c0002t0014g0169 a0002c0002t0014g0170 others(2): Show a0002c0002t0014g0168 a0002c0002t0014g0169 a0002c0002t0014g0170 a0002c0002t0059g0171 a0002c0002t0067g0172	5	234	0.0214	-27	c.490 others(46): Show c.490-11614_490-11588delTCCTCTCCTCTCCTCCTCCTCTCCTC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4			chr22	TogoVar
FAM89A_chr1_231013958_231045254	231033833	AAGAACTC others(20): Show AAGAACTCTAACCTCACTTGGAGATAGC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	450	0.0022	-27	c.291 others(44): Show c.291+6061_291+6087delGCTATCTCCAAGTGAGGTTAGAGTTCT	FAM89A	ENSG00000182118.8	transcript	ENST00000366654.5	protein_coding	1/1			chr1	TogoVar
FAM9B_chrX_9019232_9039127	9023001	TATTATAT others(20): Show TATTATATTATGTATAAGATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	258	0.0039	-27	c.23 others(38): Show c.2381_*2407delTATATTATATCTTATACATAATATAAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1230		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9023057	TATTATAT others(20): Show TATTATATTATGTATAAGATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	258	0.0039	-27	c.23 others(38): Show c.2325_*2351delTATATTATATCTTATACATAATATAAT	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1174		chrX	TogoVar
FAN1_chr15_30898915_30948108	30929837	AATATATA others(20): Show AATATATAAAATATATATCATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp2 NA19043.hp2 HG02717.hp1 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0223 a0001c0007t0011g0224 a0001c0007t0011g0225 a0001c0007t0011g0223 a0001c0007t0011g0224 a0001c0007t0011g0225	3	303	0.0099	-27	c.278 others(44): Show c.2787+457_2787+483delTCATATATAATATATATAAAATATATA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCL_chr2_58154247_58246325	58217142	GATTTATA others(20): Show GATTTATATATATATTTATATATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01074.hp1 others(5): Show HG00597.hp1 HG00642.hp1 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG02074.hp1 HG02155.hp1 HG02698.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0283 a0001c0001t0001g0306 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0334 a0003c0005t0001g0298	8	390	0.0205	-27	c.374 others(44): Show c.374+4773_374+4799delATAAAATATATAAATATATATATAAAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FAR2_chr12_29144278_29340616	29191944	TATAGAGA others(20): Show TATAGAGACTACTACTCCTTTAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 HG01884.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0210 a0001c0002t0005g0211	2	326	0.0061	-27	c.-39 others(46): Show c.-39+42542_-39+42568delAGACTACTACTCCTTTAAAATAAATA G	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98379172	CTATATAT others(20): Show CTATATATAATATATATAATATATAATA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18951.hp2 HG00673.hp1 NA18951.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0064 a0005c0008t0001 a0001c0001t0064 a0005c0008t0001	a0001c0001t0064g0026 a0005c0008t0001g0029 a0001c0001t0064g0026 a0005c0008t0001g0029	2	218	0.0092	-27	c.496 others(44): Show c.496+1270_496+1296delTAATATATAATATATATATAATATATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5341213	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	170	0.0059	-27	c.-21 others(46): Show c.-21-27335_-21-27309delATATATATATATATATATATATTTTT T	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAXDC2_chr5_154813492_154855603	154831193	TAAGATAT others(20): Show TAAGATATATAATACCCTCTAAAATAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	310	0.0032	-27	c.245 others(42): Show c.245-298_245-272delTCTATTTTAGAGGGTATTATATATCTT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	4/8			chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524958	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02071.hp2 HG02074.hp1 others(19): Show HG01928.hp2 HG02071.hp2 HG02074.hp1 HG02273.hp1 NA18940.hp1 NA18949.hp1 NA18953.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0000 a0002c0008t0001g0000 a0002c0002t0001g0000 a0002c0008t0001g0000	22	460	0.0478	-27	c.-45 others(38): Show c.-4546_-4520delTATATATATATATATATATTTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4346		chr5	TogoVar
FBLL1_chr5_168524305_168535634	168524960	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG02074.hp2 others(1): Show HG00423.hp1 HG01175.hp1 HG02074.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	460	0.0087	-27	c.-45 others(38): Show c.-4544_-4518delTATATATATATATATATTTTTTTTTTT	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding		4344		chr5	TogoVar
FBLN7_chr2_112133385_112193218	112138732	TCAGTGTC others(20): Show TCAGTGTCCCTCCCGCCTCTCTCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02055.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG02055.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0001g0004 a0001c0001t0002g0009 a0001c0001t0002g0031	4	346	0.0116	-27	c.75+ others(38): Show c.75+60_75+86delTGTCCCTCCCGCCTCTCTCCAGGCCAG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112138909	CTGTCCCG others(20): Show CTGTCCCGCGCGCCTCTCTCCACGCCAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0255 a0001c0001t0012g0255	1	346	0.0029	-27	c.75+ others(40): Show c.75+186_75+212delGCGCGCCTCTCTCCACGCCAGTGTCCC	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139261	CCAGCGTC others(20): Show CCAGCGTCCCTCCCGCCTCTCTCCAGGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	346	0.0029	-27	c.75+ others(40): Show c.75+558_75+584delTCAGCGTCCCTCCCGCCTCTCTCCAGG	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139586	CAGTGTCC others(20): Show CAGTGTCCCTCCCGCCTCTCTCCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp2 HG01891.hp1 others(8): Show HG00639.hp2 HG01346.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03486.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0047 a0001c0001t0003g0052	11	346	0.0318	-27	c.75+ others(40): Show c.75+883_75+909delTAGTGTCCCTCCCGCCTCTCTCCAGGC	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139916	GCGCCTCT others(20): Show GCGCCTCTCTCCATGCCAGTGTCCCTCC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	346	0.0029	-27	c.75+ others(42): Show c.75+1199_75+1225delTGCCAGTGTCCCTCCCGCCTCTCTCCA	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112140097	CGTCCCTC others(20): Show CGTCCCTCCCGCCTCTCTCCACGCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02896.hp2 HG03130.hp1 others(1): Show HG00408.hp1 HG02896.hp2 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0250 a0001c0001t0001g0308	4	346	0.0116	-27	c.75+ others(42): Show c.75+1415_75+1441delCGCCAGTGTCCCTCCCGCCTCTCTCCA	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar

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