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 per page.

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
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0012 a0001c0001t0025	a0001c0001t0012g0001 a0001c0001t0025g0051 a0001c0001t0012g0001 a0001c0001t0025g0051	2	56	0.0357	-23	c.187 others(42): Show c.1871+3262_1871+3284delTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	56	0.0179	-23	c.235 others(42): Show c.235-67449_235-67427delATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp2 HG02572.hp2 others(11): Show HG00673.hp1 HG01891.hp2 HG02572.hp2 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA18994.hp1 NA19000.hp1 NA19064.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0020 a0003c0004 others(1): Show a0001c0001 a0001c0020 a0003c0004 a0015c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0020t0001 a0003c0004t0001 a0015c0024t0022	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0129 a0001c0001t0006g0150 a0001c0001t0009g0037 a0001c0020t0001g0117 a0003c0004t0001g0271 a0015c0024t0022g0146	14	306	0.0458	-23	c.-57 others(42): Show c.-57-23234_-57-23212delTTTTTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65993589	ATATTTAA others(16): Show ATATTTAATTGTTAATTGCTATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01167.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 others(13): Show a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	16	306	0.0523	-23	c.189 others(38): Show c.189+683_189+705delTATTTAATTGTTAATTGCTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	3/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065590	CCTGTGTG others(16): Show CCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	306	0.0033	-23	c.363 others(42): Show c.3634-6578_3634-6556delCTGTGTGTGTGTGTGTGTGTGTG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25			chr5	TogoVar
ERC1_chr12_986223_1500931	1164314	TTTATTTT others(16): Show TTTATTTTGTTATTTTATTTTATG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(27): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03516.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0006c0009 a0009c0008	a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 others(27): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0061 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0103 a0002c0002t0018 a0002c0002t0026 a0002c0002t0047 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0100 a0002c0006t0051 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0006c0009t0025 a0009c0008t0041	a0001c0001t0003g0029 a0001c0001t0020g0113 a0001c0001t0021g0116 others(27): Show a0001c0001t0003g0029 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0028g0129 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0061g0153 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0103g0132 a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0047g0104 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0100g0134 a0002c0006t0051g0081 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0006c0009t0025g0110 a0009c0008t0041g0140	30	162	0.1852	-23	c.173 others(44): Show c.1738-16218_1738-16196delGTTATTTTATTTTATGTTATTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1400908	ATTTTTGT others(16): Show ATTTTTGTATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp2 HG02735.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0068 a0001c0001t0013 a0001c0001t0068	a0001c0001t0013g0015 a0001c0001t0068g0083 a0001c0001t0013g0015 a0001c0001t0068g0083	2	162	0.0124	-23	c.292 others(42): Show c.2926-7235_2926-7213delGTATTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1483668	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0051 a0002c0006t0051	a0002c0006t0051g0081 a0002c0006t0051g0081	1	162	0.0062	-23	c.321 others(42): Show c.3214-6409_3214-6387delTTTTTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493543	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0047 a0001c0001t0123g0047	1	162	0.0062	-23	c.33 others(34): Show c.3315_*3337delAAAAATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3315	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55942266	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	74	0.0135	-23	c.240 others(42): Show c.2403+8136_2403+8158delAAAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERCC3_chr2_127252290_127299144	127295981	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01358.hp1 HG01256.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0220 a0001c0001t0004g0221	2	350	0.0057	-23	c.-19 others(34): Show c.-1923_-1901delCTTTTTTTTTTTTTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1838		chr2	TogoVar
ERFL_chr19_41902704_41933449	41914809	CCCTCCAC others(16): Show CCCTCCACCGTGTCTCCCCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03491.hp2 HG03492.hp1 HG01258.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0011 a0001c0001t0001g0049	3	330	0.0091	-23	c.-13 others(40): Show c.-13-1900_-13-1878delAAGGGGGGGAGACACGGTGGAGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC3_chr20_35537078_35562634	35539312	TATATATA others(16): Show TATATATAACAGTTTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02630.hp2 others(4): Show HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063	7	364	0.0192	-23	c.-27 others(34): Show c.-2785_-2763delATATATAACAGTTTATATATATA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2765		chr20	TogoVar
ERI3_chr1_44216070_44360257	44342837	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0255 a0001c0001t0001g0123 a0001c0001t0001g0255	2	340	0.0059	-23	c.212 others(40): Show c.212-3538_212-3516delAAATATATATATATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	442	0.0023	-23	c.59- others(38): Show c.59-3920_59-3898delTTTTTTTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606529	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp1 NA19009.hp1 HG02055.hp2 HG03098.hp1 NA19009.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0030c0047 a0002c0002 a0030c0047	a0002c0002t0001 a0030c0047t0002 a0002c0002t0001 a0030c0047t0002	a0002c0002t0001g0152 a0002c0002t0001g0214 a0030c0047t0002g0213 a0002c0002t0001g0152 a0002c0002t0001g0214 a0030c0047t0002g0213	3	326	0.0092	-23	c.-59 others(40): Show c.-59+1012_-59+1034delAAAAATATATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606531	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00639.hp2 others(30): Show HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01169.hp2 HG01258.hp2 HG01361.hp2 HG01943.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02615.hp1 HG03041.hp1 HG03239.hp2 HG03490.hp1 HG03669.hp2 NA18747.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18969.hp1 NA18971.hp2 NA18988.hp2 NA18990.hp1 NA18997.hp1 NA19010.hp2 NA19085.hp1 NA19091.hp2	a0002 a0003 a0009 others(2): Show a0002 a0003 a0009 a0016 a0020	a0002c0002 a0003c0003 a0009c0009 others(2): Show a0002c0002 a0003c0003 a0009c0009 a0016c0017 a0020c0021	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0009c0009t0001 a0016c0017t0001 a0020c0021t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0029 others(28): Show a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0002g0276 a0002c0002t0002g0277 a0003c0003t0001g0169 a0009c0009t0001g0101 a0009c0009t0001g0158 a0009c0009t0001g0160 a0009c0009t0001g0164 a0009c0009t0001g0279 a0016c0017t0001g0102 a0020c0021t0001g0226	33	326	0.1012	-23	c.-59 others(40): Show c.-59+1010_-59+1032delAAAAAAATATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606533	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04199.hp1 HG06807.hp2 HG01257.hp2 HG04199.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0220 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0220	3	326	0.0092	-23	c.-59 others(40): Show c.-59+1008_-59+1030delAAAAAAAAATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERV3-1_chr7_64985356_65011687	64989475	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	458	0.0022	-23	c.17 others(34): Show c.1714_*1736delATATATATATATATATATATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		880		chr7	TogoVar
ESCO2_chr8_27769554_27810316	27802631	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp2 HG03471.hp2 others(1): Show HG02257.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0044 a0001c0001t0003g0169 a0001c0001t0024g0155 a0001c0001t0003g0044 a0001c0001t0003g0169 a0001c0001t0024g0155	4	380	0.0105	-23	c.167 others(40): Show c.1674-674_1674-652delTATATATATATATATATATATAT	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10			chr8	TogoVar
ESPNL_chr2_238095340_238138287	238106713	CACAGGGG others(16): Show CACAGGGGGTCCTGAGGGAGGGAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18963.hp2 HG00323.hp2 NA18963.hp2	a0003 a0003	a0003c0035 a0003c0116 a0003c0035 a0003c0116	a0003c0035t0009 a0003c0116t0001 a0003c0035t0009 a0003c0116t0001	a0003c0035t0009g0255 a0003c0116t0001g0280 a0003c0035t0009g0255 a0003c0116t0001g0280	2	408	0.0049	-23	c.673 others(40): Show c.673-1071_673-1049delGGTCCTGAGGGAGGGAAACAGGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238106720	GGTCCTGA others(16): Show GGTCCTGAGGGAGGGAAACAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(194): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0031 a0036 a0039 a0040 a0041 a0042 a0045	a0001c0002 a0001c0005 a0001c0008 others(60): Show a0001c0002 a0001c0005 a0001c0008 a0001c0012 a0001c0016 a0001c0030 a0001c0038 a0001c0050 a0001c0127 a0002c0001 a0002c0004 a0002c0066 a0002c0081 a0002c0085 a0002c0091 a0002c0118 a0002c0122 a0003c0009 a0003c0010 a0003c0013 a0003c0029 a0003c0044 a0003c0082 a0003c0086 a0003c0089 a0003c0119 a0004c0003 a0004c0017 a0004c0037 a0005c0007 a0005c0019 a0005c0027 a0005c0087 a0006c0006 a0006c0046 a0006c0051 a0007c0123 a0008c0023 a0008c0090 a0011c0088 a0011c0124 a0013c0040 a0014c0039 a0015c0120 a0015c0131 a0017c0125 a0018c0053 a0019c0054 a0020c0052 a0021c0055 a0022c0056 a0023c0065 a0024c0094 a0025c0075 a0027c0076 a0028c0077 a0031c0121 a0036c0126 a0039c0105 a0040c0093 a0041c0092 a0042c0084 a0045c0095	a0001c0002t0009 a0001c0005t0001 a0001c0005t0003 others(78): Show a0001c0002t0009 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0005t0023 a0001c0008t0003 a0001c0008t0004 a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0001c0030t0006 a0001c0038t0004 a0001c0038t0009 a0001c0038t0025 a0001c0050t0009 a0001c0127t0004 a0002c0001t0002 a0002c0001t0020 a0002c0004t0002 a0002c0004t0007 a0002c0066t0007 a0002c0081t0005 a0002c0085t0007 a0002c0091t0002 a0002c0118t0007 a0002c0122t0002 a0003c0009t0021 a0003c0010t0001 a0003c0010t0012 a0003c0010t0019 a0003c0013t0001 a0003c0013t0015 a0003c0013t0029 a0003c0029t0001 a0003c0044t0006 a0003c0082t0006 a0003c0086t0006 a0003c0089t0012 a0003c0119t0012 a0004c0003t0005 a0004c0017t0005 a0004c0037t0005 a0005c0007t0001 a0005c0007t0008 a0005c0019t0001 a0005c0019t0024 a0005c0027t0001 a0005c0027t0022 a0005c0087t0001 a0006c0006t0002 a0006c0006t0003 a0006c0046t0008 a0006c0051t0003 a0007c0123t0003 a0008c0023t0010 a0008c0023t0018 a0008c0090t0001 a0011c0088t0006 a0011c0124t0011 a0013c0040t0001 a0014c0039t0003 a0015c0120t0003 a0015c0131t0003 a0017c0125t0002 a0018c0053t0007 a0019c0054t0001 a0020c0052t0006 a0021c0055t0003 a0022c0056t0001 a0023c0065t0003 a0024c0094t0003 a0025c0075t0011 a0027c0076t0001 a0028c0077t0005 a0031c0121t0011 a0036c0126t0002 a0039c0105t0026 a0040c0093t0004 a0041c0092t0013 a0042c0084t0007 a0045c0095t0006	a0001c0002t0009g0214 a0001c0005t0001g0122 a0001c0005t0003g0009 others(161): Show a0001c0002t0009g0214 a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0050 a0001c0005t0003g0052 a0001c0005t0003g0090 a0001c0005t0003g0098 a0001c0005t0003g0100 a0001c0005t0003g0112 a0001c0005t0003g0113 a0001c0005t0003g0197 a0001c0005t0006g0093 a0001c0005t0023g0064 a0001c0008t0003g0076 a0001c0008t0004g0004 a0001c0008t0004g0011 a0001c0008t0004g0024 a0001c0008t0004g0061 a0001c0008t0004g0067 a0001c0008t0004g0068 a0001c0008t0004g0085 a0001c0008t0004g0097 a0001c0008t0004g0105 a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0007 a0001c0016t0004g0022 a0001c0016t0004g0080 a0001c0016t0004g0081 a0001c0030t0006g0005 a0001c0038t0004g0134 a0001c0038t0009g0136 a0001c0038t0025g0146 a0001c0050t0009g0140 a0001c0127t0004g0220 a0002c0001t0002g0001 a0002c0001t0002g0029 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0137 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0147 a0002c0001t0002g0149 a0002c0001t0020g0001 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0011 a0002c0004t0002g0024 a0002c0004t0002g0043 a0002c0004t0002g0066 a0002c0004t0002g0095 a0002c0004t0002g0101 a0002c0004t0002g0103 a0002c0004t0002g0106 a0002c0004t0002g0109 a0002c0004t0002g0111 a0002c0004t0002g0115 a0002c0004t0007g0055 a0002c0004t0007g0125 a0002c0066t0007g0163 a0002c0081t0005g0023 a0002c0085t0007g0092 a0002c0091t0002g0063 a0002c0118t0007g0153 a0002c0122t0002g0150 a0003c0009t0021g0077 a0003c0010t0001g0020 a0003c0010t0001g0021 a0003c0010t0001g0031 a0003c0010t0001g0075 a0003c0010t0001g0099 a0003c0010t0001g0116 a0003c0010t0012g0195 a0003c0010t0019g0021 a0003c0013t0001g0139 a0003c0013t0001g0144 a0003c0013t0001g0228 a0003c0013t0015g0156 a0003c0013t0015g0157 a0003c0013t0029g0152 a0003c0029t0001g0192 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0086t0006g0114 a0003c0089t0012g0119 a0003c0119t0012g0160 a0004c0003t0005g0040 a0004c0017t0005g0011 a0004c0017t0005g0012 a0004c0017t0005g0070 a0004c0017t0005g0117 a0004c0017t0005g0121 a0004c0037t0005g0001 a0004c0037t0005g0029 a0005c0007t0001g0020 a0005c0007t0001g0065 a0005c0007t0001g0074 a0005c0007t0001g0086 a0005c0007t0008g0008 a0005c0007t0008g0051 a0005c0007t0008g0053 a0005c0007t0008g0104 a0005c0019t0001g0013 a0005c0019t0001g0141 a0005c0019t0001g0154 a0005c0019t0001g0158 a0005c0019t0024g0135 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0005c0087t0001g0054 a0006c0006t0002g0108 a0006c0006t0003g0004 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0102 a0006c0006t0003g0120 a0006c0006t0003g0126 a0006c0046t0008g0088 a0006c0046t0008g0089 a0006c0051t0003g0028 a0007c0123t0003g0145 a0008c0023t0010g0091 a0008c0023t0010g0110 a0008c0023t0010g0123 a0008c0023t0010g0127 a0008c0023t0010g0162 a0008c0023t0018g0096 a0008c0090t0001g0073 a0011c0088t0006g0069 a0011c0124t0011g0155 a0013c0040t0001g0211 a0013c0040t0001g0212 a0014c0039t0003g0207 a0014c0039t0003g0209 a0015c0120t0003g0165 a0015c0131t0003g0164 a0017c0125t0002g0148 a0018c0053t0007g0208 a0019c0054t0001g0206 a0020c0052t0006g0210 a0021c0055t0003g0124 a0022c0056t0001g0042 a0023c0065t0003g0094 a0024c0094t0003g0166 a0025c0075t0011g0200 a0027c0076t0001g0072 a0028c0077t0005g0071 a0031c0121t0011g0159 a0036c0126t0002g0138 a0039c0105t0026g0256 a0040c0093t0004g0004 a0041c0092t0013g0107 a0042c0084t0007g0044 a0045c0095t0006g0196	197	408	0.4828	-23	c.673 others(40): Show c.673-1066_673-1044delTGAGGGAGGGAAACAGGGTGTCC	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108753777	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03471.hp1 others(2): Show HG01884.hp2 HG02572.hp1 HG03471.hp1 HG03471.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0313 a0002c0002t0002g0314 others(1): Show a0002c0002t0002g0030 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315	5	378	0.0132	-23	c.502 others(38): Show c.502-789_502-767delCTTTCTTTCTTTCTTTCTTTCTT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETV3L_chr1_157087043_157104808	157101388	GGTCTGGA others(16): Show GGTCTGGAGGGCGTGTGAGGATTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02622.hp2 others(2): Show HG02055.hp1 HG02572.hp1 HG02622.hp2 HG03471.hp1 NA19030.hp1	a0004 a0004	a0004c0011 a0004c0013 a0004c0011 a0004c0013	a0004c0011t0008 a0004c0011t0015 a0004c0013t0014 a0004c0011t0008 a0004c0011t0015 a0004c0013t0014	a0004c0011t0008g0239 a0004c0011t0008g0240 a0004c0011t0008g0241 others(2): Show a0004c0011t0008g0239 a0004c0011t0008g0240 a0004c0011t0008g0241 a0004c0011t0015g0242 a0004c0013t0014g0238	5	464	0.0108	-23	c.-18 others(34): Show c.-1888_-1866delAAATCCTCACACGCCCTCCAGAC	ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding		1581		chr1	TogoVar
ETV6_chr12_11644674_11900377	11760061	ATGTGTGA others(16): Show ATGTGTGAGTGTTTTGTGGTTCAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0071 a0001c0001t0076g0071	1	262	0.0038	-23	c.163 others(40): Show c.163+7484_163+7506delGTGTGAGTGTTTTGTGGTTCATT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1C_chr21_32407706_32520387	32502017	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0342 a0001c0021t0001g0342	1	346	0.0029	-23	c.859 others(38): Show c.859+525_859+547delCTTTCTTTCTTTCTTTCTTTCTT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXD1_chr15_41177728_41235757	41192594	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0008 a0001c0005t0001g0007 a0001c0005t0001g0008	2	318	0.0063	-23	c.721 others(40): Show c.721-1032_721-1010delAAAAAAAAAAAAAAAAAAAAAAA	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	9/11			chr15	TogoVar
EXOC4_chr7_133248078_134070761	133853375	CACACACA others(16): Show CACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	102	0.0098	-23	c.173 others(44): Show c.1734+35834_1734+35856delACACACACACACACACACACAAC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72671776	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	104	0.0096	-23	c.669 others(42): Show c.669+46304_669+46326delCTTTCTTTCTTTCTTTCTTTCTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72671780	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0077 a0001c0002t0017g0077	1	104	0.0096	-23	c.669 others(42): Show c.669+46300_669+46322delCTTTCTTTCTTTCTTTCTTTCTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92896171	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	288	0.0035	-23	c.412 others(40): Show c.412+1153_412+1175delATATATATATTTTTTTTTTTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXT1_chr8_117789490_118116826	118096597	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	190	0.0053	-23	c.962 others(42): Show c.962+13465_962+13487delCCTTCCTTCCTTCCTTCCTTCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	47166393	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	238	0.0042	-23	c.979 others(40): Show c.979-2730_979-2708delAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28019489	TTTCCAGA others(16): Show TTTCCAGATTTTGTTATCAGTACA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	392	0.0026	-23	c.500 others(40): Show c.500-2273_500-2251delTGTACTGATAACAAAATCTGGAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	7/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28047648	TTTTTTTT others(16): Show TTTTTTTTTGAGACAGAGTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01106.hp2 others(12): Show HG00642.hp2 HG00738.hp2 HG01106.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG02055.hp1 HG02257.hp2 HG02809.hp1 HG03130.hp1 HG03654.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0003t0002 a0001c0001t0002 a0001c0001t0009 a0001c0003t0002	a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 others(12): Show a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0009g0323 a0001c0003t0002g0315	15	392	0.0383	-23	c.77+ others(36): Show c.77+712_77+734delGCGAGACTCTGTCTCAAAAAAAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	3/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084573	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	392	0.0026	-23	c.-69 others(40): Show c.-69+3928_-69+3950delATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084575	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	392	0.0026	-23	c.-69 others(40): Show c.-69+3926_-69+3948delAAATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084583	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0381 a0001c0001t0004g0381	1	392	0.0026	-23	c.-69 others(40): Show c.-69+3918_-69+3940delAAAAAAAAAAATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	63937340	CTTTTCTT others(16): Show CTTTTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0005 a0016c0014t0001g0005	1	24	0.0417	-23	c.705 others(44): Show c.7055+47020_7055+47042delAAAAAAAAAAAAAAAAAAGAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	35/42			chr6	TogoVar
EYS_chr6_63714980_65712226	63937345	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0010 a0019c0023t0001g0010	1	24	0.0417	-23	c.705 others(44): Show c.7055+47015_7055+47037delAAAAAAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	35/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64000168	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG02965.hp1 HG02970.hp2	a0012 a0014 a0012 a0014	a0012c0005 a0014c0004 a0012c0005 a0014c0004	a0012c0005t0001 a0014c0004t0002 a0012c0005t0001 a0014c0004t0002	a0012c0005t0001g0014 a0014c0004t0002g0024 a0012c0005t0001g0014 a0014c0004t0002g0024	2	24	0.0833	-23	c.672 others(41): Show c.6726-1008_6726-986delAAAAAAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	33/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65204881	CGTATTTA others(16): Show CGTATTTATATATTCTGGAAGAAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02809.hp2 HG02896.hp1 others(1): Show HG01169.hp2 HG02809.hp2 HG02896.hp1 HG03098.hp2	a0003 a0005 a0016 others(1): Show a0003 a0005 a0016 a0017	a0003c0019 a0005c0010 a0016c0014 others(1): Show a0003c0019 a0005c0010 a0016c0014 a0017c0013	a0003c0019t0001 a0005c0010t0001 a0016c0014t0001 others(1): Show a0003c0019t0001 a0005c0010t0001 a0016c0014t0001 a0017c0013t0001	a0003c0019t0001g0006 a0005c0010t0001g0015 a0016c0014t0001g0005 others(1): Show a0003c0019t0001g0006 a0005c0010t0001g0015 a0016c0014t0001g0005 a0017c0013t0001g0017	4	24	0.1667	-23	c.202 others(44): Show c.2023+90959_2023+90981delATTCTTCCAGAATATATAAATAC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65204918	CTTTATAT others(16): Show CTTTATATATTCTAGAAGAATATA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02896.hp1 HG02970.hp1 HG01169.hp2 HG02896.hp1 HG02970.hp1	a0003 a0005 a0010 a0003 a0005 a0010	a0003c0019 a0005c0010 a0010c0003 a0003c0019 a0005c0010 a0010c0003	a0003c0019t0001 a0005c0010t0001 a0010c0003t0001 a0003c0019t0001 a0005c0010t0001 a0010c0003t0001	a0003c0019t0001g0006 a0005c0010t0001g0015 a0010c0003t0001g0016 a0003c0019t0001g0006 a0005c0010t0001g0015 a0010c0003t0001g0016	3	24	0.1250	-23	c.202 others(44): Show c.2023+90922_2023+90944delTATATTCTTCTAGAATATATAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65560304	TATATAAT others(16): Show TATATAATATATTATTAATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG03195.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1	a0003 a0007 a0014 a0003 a0007 a0014	a0003c0002 a0007c0018 a0014c0004 a0003c0002 a0007c0018 a0014c0004	a0003c0002t0002 a0007c0018t0001 a0014c0004t0002 a0003c0002t0002 a0007c0018t0001 a0014c0004t0002	a0003c0002t0002g0019 a0007c0018t0001g0007 a0014c0004t0002g0024 a0003c0002t0002g0019 a0007c0018t0001g0007 a0014c0004t0002g0024	3	24	0.1250	-23	c.-33 others(44): Show c.-332-64334_-332-64312delGTTATATTAATAATATATTATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
FAAP100_chr17_81534891_81557353	81542185	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18522.hp2 HG01069.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0168 a0001c0001t0001g0097 a0001c0001t0001g0168	2	436	0.0046	-23	c.242 others(40): Show c.2428-813_2428-791delATATATATTTTTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542187	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01358.hp2 others(7): Show HG00323.hp1 HG00544.hp2 HG01358.hp2 HG02132.hp2 NA18953.hp1 NA18959.hp1 NA18973.hp2 NA18990.hp1 NA19064.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0022 a0008c0009 a0001c0001 a0001c0022 a0008c0009	a0001c0001t0001 a0001c0001t0010 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0022t0001 a0008c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0010g0035 a0001c0022t0001g0129 a0008c0009t0001g0250	10	436	0.0229	-23	c.242 others(40): Show c.2428-815_2428-793delATATATATATTTTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAAP100_chr17_81534891_81557353	81542189	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG01978.hp1 others(8): Show HG00597.hp2 HG01943.hp1 HG01978.hp1 HG02132.hp1 NA18612.hp2 NA18747.hp1 NA18975.hp1 NA18998.hp2 NA19007.hp2 NA19055.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0010g0095	11	436	0.0252	-23	c.242 others(40): Show c.2428-817_2428-795delATATATATATATTTTTTTTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FADS6_chr17_74872302_74898633	74887469	CCTGGTCA others(16): Show CCTGGTCAATGCCCTCATCACATT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19010.hp1 NA19065.hp1 others(1): Show NA19004.hp2 NA19010.hp1 NA19065.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0002g0248 others(1): Show a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0002g0248 a0001c0001t0002g0249	4	440	0.0091	-23	c.412 others(40): Show c.412-4782_412-4760delAATGTGATGAGGGCATTGACCAG	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	2/5			chr17	TogoVar
FAF1_chr1_50432028_50965267	50746267	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	190	0.0053	-23	c.368 others(40): Show c.368-1515_368-1493delTATATATATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50746269	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01255.hp1 others(7): Show HG00642.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01993.hp1 HG02280.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0001t0032	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0015 others(7): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0015 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0008g0139 a0001c0001t0016g0159 a0001c0001t0032g0127	10	190	0.0526	-23	c.368 others(40): Show c.368-1517_368-1495delTATATATATATATATATATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18			chr1	TogoVar

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