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
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01168.hp2 others(7): Show HG00280.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01934.hp2 HG02109.hp2 HG02257.hp1 HG04199.hp1 NA18973.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0006c0033 others(1): Show a0001c0001 a0006c0006 a0006c0033 a0006c0035	a0001c0001t0001 a0006c0006t0004 a0006c0006t0011 others(2): Show a0001c0001t0001 a0006c0006t0004 a0006c0006t0011 a0006c0033t0008 a0006c0035t0004	a0001c0001t0001g0124 a0006c0006t0004g0019 a0006c0006t0004g0321 others(5): Show a0001c0001t0001g0124 a0006c0006t0004g0019 a0006c0006t0004g0321 a0006c0006t0004g0326 a0006c0006t0004g0330 a0006c0006t0011g0041 a0006c0033t0008g0327 a0006c0035t0004g0329	10	416	0.0240	-32	c.-37 others(41): Show c.-377_-346delACACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(25): Show GATATATATATATATATATATATATATACACAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 NA19030.hp2 others(1): Show HG03471.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0001t0026 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001	a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0001t0026g0052 others(1): Show a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0002t0001g0036	4	56	0.0714	-32	c.556 others(51): Show c.556+15185_556+15216delATGTGTATATATATATATATATATAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773598	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 NA18522.hp1 others(1): Show HG02145.hp2 HG02965.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029	a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 others(1): Show a0001c0001t0004g0011 a0001c0001t0011g0042 a0001c0001t0027g0055 a0001c0001t0029g0054	4	56	0.0714	-32	c.556 others(51): Show c.556+14395_556+14426delTATATATATATATATATATATATATA TATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03453.hp2 HG01175.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0047 a0001c0002t0001g0031 a0001c0001t0002g0047 a0001c0002t0001g0031	2	56	0.0357	-32	c.235 others(51): Show c.235-67457_235-67426delATATATATATATATATATATATATAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1424828	TAGATAGA others(25): Show TAGATAGATAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp2 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0016g0098 a0002c0002t0016g0101	2	162	0.0124	-32	c.302 others(53): Show c.3024+16582_3024+16613delAGATAGATAGATAGATGATAGATA GATAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1424832	TAGATAGA others(25): Show TAGATAGATAGATGATAGATAGATAGATAGATC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02818.hp2 HG02896.hp2 HG02602.hp1 HG02818.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0103 a0002c0002t0140 a0002c0006t0051 a0001c0001t0103 a0002c0002t0140 a0002c0006t0051	a0001c0001t0103g0132 a0002c0002t0140g0108 a0002c0006t0051g0081 a0001c0001t0103g0132 a0002c0002t0140g0108 a0002c0006t0051g0081	3	162	0.0185	-32	c.302 others(53): Show c.3024+16586_3024+16617delAGATAGATAGATGATAGATAGATA GATAGATC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1424836	TAGATAGA others(25): Show TAGATAGATGATAGATAGATAGATAGATCGATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0082 a0005c0010t0082	a0005c0010t0082g0126 a0005c0010t0082g0126	1	162	0.0062	-32	c.302 others(53): Show c.3024+16590_3024+16621delAGATAGATGATAGATAGATAGATA GATCGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG01891.hp2 others(12): Show HG00408.hp1 HG01109.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02155.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03225.hp2 NA18949.hp1 NA18982.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0004 a0001c0001t0023 a0001c0001t0030 others(9): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0030 a0001c0001t0057 a0001c0001t0119 a0002c0002t0002 a0002c0002t0038 a0002c0002t0048 a0002c0002t0076 a0002c0002t0080 a0002c0002t0140 a0004c0005t0122	a0001c0001t0004g0078 a0001c0001t0023g0162 a0001c0001t0030g0109 others(12): Show a0001c0001t0004g0078 a0001c0001t0023g0162 a0001c0001t0030g0109 a0001c0001t0057g0156 a0001c0001t0119g0061 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0038g0082 a0002c0002t0048g0070 a0002c0002t0076g0146 a0002c0002t0080g0127 a0002c0002t0140g0108 a0004c0005t0122g0057	15	162	0.0926	-32	c.302 others(51): Show c.3025-3925_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583512	CCTCCCTC others(25): Show CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0056 a0002c0003t0003g0056	1	74	0.0135	-32	c.40 others(51): Show c.40-72268_*40-72237delAAAGGAAGGAAGGAAGGAAGGGAGGG AGGGAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55714663	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 NA19030.hp2 others(1): Show HG02809.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0003g0044 a0001c0002t0001g0006 others(1): Show a0001c0001t0001g0007 a0001c0001t0003g0044 a0001c0002t0001g0006 a0001c0002t0001g0017	4	74	0.0541	-32	c.271 others(53): Show c.2713-15183_2713-15152delTATATATATATATATATATATATA TATACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56348935	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG02040.hp2 others(2): Show HG00741.hp2 HG01069.hp2 HG02040.hp2 HG02965.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0003g0068 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0003g0068 a0001c0001t0005g0053 a0001c0002t0001g0003	5	74	0.0676	-32	c.658 others(51): Show c.658-52532_658-52501delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC6_chr10_49449470_49544121	49526091	TTATATAT others(25): Show TTATATATTTATATATTTATATATTTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(25): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG01261.hp2 HG01496.hp1 HG01928.hp1 HG02015.hp2 HG02273.hp2 HG02300.hp1 NA18939.hp1 NA18945.hp2 NA18948.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18989.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp1 NA20300.hp2	a0002 a0011 a0015 others(2): Show a0002 a0011 a0015 a0017 a0019	a0002c0002 a0002c0007 a0011c0015 others(3): Show a0002c0002 a0002c0007 a0011c0015 a0015c0022 a0017c0020 a0019c0021	a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 others(7): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0012 a0002c0007t0004 a0002c0007t0021 a0011c0015t0004 a0015c0022t0004 a0017c0020t0005 a0019c0021t0012	a0002c0002t0004g0007 a0002c0002t0004g0039 a0002c0002t0004g0040 others(23): Show a0002c0002t0004g0007 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0074 a0002c0002t0005g0078 a0002c0002t0009g0204 a0002c0002t0012g0161 a0002c0002t0012g0162 a0002c0007t0004g0009 a0002c0007t0004g0061 a0002c0007t0004g0063 a0002c0007t0004g0064 a0002c0007t0004g0065 a0002c0007t0004g0066 a0002c0007t0004g0068 a0002c0007t0004g0069 a0002c0007t0004g0070 a0002c0007t0004g0077 a0002c0007t0021g0067 a0011c0015t0004g0037 a0011c0015t0004g0038 a0015c0022t0004g0062 a0017c0020t0005g0060 a0019c0021t0012g0205	28	388	0.0722	-32	c.653 others(49): Show c.653-1346_653-1315delTATATAAAAATATATAAATATATAAATA TATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp1 others(33): Show HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01934.hp1 HG02056.hp2 HG02615.hp1 HG03225.hp1 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19054.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA19088.hp1	a0004 a0004	a0004c0006 a0004c0023 a0004c0006 a0004c0023	a0004c0006t0001 a0004c0006t0010 a0004c0023t0010 a0004c0006t0001 a0004c0006t0010 a0004c0023t0010	a0004c0006t0001g0022 a0004c0006t0001g0023 a0004c0006t0001g0030 others(25): Show a0004c0006t0001g0022 a0004c0006t0001g0023 a0004c0006t0001g0030 a0004c0006t0001g0031 a0004c0006t0001g0032 a0004c0006t0001g0033 a0004c0006t0001g0236 a0004c0006t0001g0301 a0004c0006t0001g0302 a0004c0006t0001g0303 a0004c0006t0001g0304 a0004c0006t0001g0305 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0310 a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313 a0004c0006t0001g0314 a0004c0006t0001g0315 a0004c0006t0001g0316 a0004c0006t0001g0318 a0004c0006t0001g0319 a0004c0006t0001g0321 a0004c0006t0010g0006 a0004c0006t0010g0317 a0004c0023t0010g0309	36	388	0.0928	-32	c.653 others(49): Show c.653-1370_653-1339delTATATATATATATATATATATATATATA TAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526091	TTATATAT others(25): Show TTATATATTTATATATTTATATATTTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(29): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG02015.hp2 HG02129.hp1 HG02273.hp2 HG02300.hp1 NA18939.hp1 NA18945.hp2 NA18948.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18989.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19079.hp1 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0006 a0008c0014 a0002c0002 a0002c0006 a0008c0014	a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0008c0014t0002	a0002c0002t0001g0046 a0002c0002t0001g0145 a0002c0002t0001g0146 others(10): Show a0002c0002t0001g0046 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0002g0005 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0069 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0006t0002g0003 a0002c0006t0002g0032 a0002c0006t0002g0070 a0008c0014t0002g0071	32	402	0.0796	-32	c.653 others(49): Show c.653-1346_653-1315delTATATAAAAATATATAAATATATAAATA TATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp1 others(32): Show HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01934.hp1 HG02056.hp1 HG02615.hp1 HG03225.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18977.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0013 others(10): Show a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0013 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0201	35	402	0.0871	-32	c.653 others(49): Show c.653-1370_653-1339delTATATATATATATATATATATATATATA TAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERFL_chr19_41902704_41933449	41914863	CATCTCTG others(25): Show CATCTCTGTCTCTCCCTCCCCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0003 a0000c0003t0003	a0000c0003t0003g0248 a0000c0003t0003g0248	1	330	0.0030	-32	c.-13 others(49): Show c.-13-1963_-13-1932delAGAGATGATGGAGGGGAGGGAGAGACAG AGAT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERI3_chr1_44216070_44360257	44342827	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp1 HG02004.hp2 others(13): Show HG00280.hp2 HG01261.hp1 HG02004.hp2 HG02148.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp2 NA18962.hp1 NA18975.hp1 NA18995.hp2 NA19007.hp2 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(13): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120	16	340	0.0471	-32	c.212 others(49): Show c.212-3537_212-3506delAATATATATATATATATATATATATATA TATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342829	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02523.hp2 HG02293.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0114 a0001c0001t0001g0119	2	340	0.0059	-32	c.212 others(49): Show c.212-3539_212-3508delAAAATATATATATATATATATATATATA TATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342841	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	340	0.0029	-32	c.212 others(49): Show c.212-3551_212-3520delAAAAAAAAAAAAAAAATATATATATATA TATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	679190	AAGCTCCA others(25): Show AAGCTCCAGTCCCTCTCAGCAGTGACCCCTCAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01358.hp2 others(3): Show HG00280.hp1 HG00323.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0298 a0001c0002t0002g0335 a0001c0002t0002g0336 others(3): Show a0001c0002t0002g0298 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0346 a0001c0002t0002g0348	6	378	0.0159	-32	c.305 others(49): Show c.305-5175_305-5144delGTGAGGGGTCACTGCTGAGAGGGACTGG AGCT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(25): Show CTATATATATATATATATATATATATATGTATA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	442	0.0023	-32	c.58+ others(47): Show c.58+8727_58+8758delATATATGTATATATATATATATATATATAT AT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606499	GTATGTGT others(25): Show GTATGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	326	0.0031	-32	c.-59 others(49): Show c.-59+1033_-59+1064delTATATATATATATATATATATATATACA CATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606527	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0089 a0023c0035t0001g0089	1	326	0.0031	-32	c.-59 others(49): Show c.-59+1005_-59+1036delAAAAAAAAAAAATATATATATATATATA TATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERMARD_chr6_169746622_169786600	169783719	GCATGTGC others(25): Show GCATGTGCTGTTTGTGCTCTGCCAGCTCAGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	379	0.0026	-32	c.22 others(43): Show c.2207_*2238delCATGTGCTGTTTGTGCTCTGCCAGCTCAGCTC	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		2120		chr6	TogoVar
ERO1B_chr1_236210101_236286958	236245526	GTATATAT others(25): Show GTATATATATGTGTGTATGTATGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp2 others(59): Show HG00323.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18998.hp2 NA19011.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19080.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 others(6): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0023 a0002c0002t0024 a0002c0002t0060 a0002c0002t0062 a0002c0002t0063 a0002c0002t0065	a0002c0002t0004g0006 a0002c0002t0004g0230 a0002c0002t0004g0233 others(58): Show a0002c0002t0004g0006 a0002c0002t0004g0230 a0002c0002t0004g0233 a0002c0002t0004g0236 a0002c0002t0004g0239 a0002c0002t0004g0240 a0002c0002t0004g0241 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0004g0252 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0256 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0343 a0002c0002t0004g0347 a0002c0002t0004g0349 a0002c0002t0004g0350 a0002c0002t0004g0351 a0002c0002t0004g0353 a0002c0002t0004g0356 a0002c0002t0004g0367 a0002c0002t0004g0368 a0002c0002t0004g0370 a0002c0002t0004g0375 a0002c0002t0006g0094 a0002c0002t0006g0095 a0002c0002t0006g0235 a0002c0002t0006g0243 a0002c0002t0006g0246 a0002c0002t0006g0255 a0002c0002t0006g0260 a0002c0002t0006g0263 a0002c0002t0006g0264 a0002c0002t0006g0265 a0002c0002t0006g0344 a0002c0002t0006g0345 a0002c0002t0006g0346 a0002c0002t0006g0355 a0002c0002t0006g0357 a0002c0002t0006g0361 a0002c0002t0006g0362 a0002c0002t0006g0363 a0002c0002t0006g0364 a0002c0002t0006g0365 a0002c0002t0006g0366 a0002c0002t0006g0373 a0002c0002t0012g0234 a0002c0002t0012g0245 a0002c0002t0023g0250 a0002c0002t0023g0358 a0002c0002t0024g0211 a0002c0002t0024g0242 a0002c0002t0024g0251 a0002c0002t0060g0214 a0002c0002t0062g0374 a0002c0002t0063g0210 a0002c0002t0065g0372	62	396	0.1566	-32	c.432 others(49): Show c.432-2063_432-2032delTATACACACACATACATACACACATATA TATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESRP1_chr8_94636174_94712466	94700937	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18747.hp2 NA18941.hp2 others(5): Show HG00438.hp2 NA18747.hp2 NA18941.hp2 NA18960.hp2 NA18981.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(5): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0243	8	374	0.0214	-32	c.35 others(49): Show c.35+3992_*35+4023delATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76447243	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0223 a0001c0001t0007g0230 a0001c0001t0001g0223 a0001c0001t0007g0230	2	318	0.0063	-32	c.460 others(49): Show c.460+7520_460+7551delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76458451	CACACACA others(25): Show CACACACACACACACACACAAACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(46): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG01071.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02486.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18953.hp1 NA18954.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19087.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0008t0005 a0002c0003t0003 a0002c0003t0004 a0005c0013t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(46): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0167 a0001c0001t0002g0237 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0311 a0001c0001t0003g0017 a0001c0001t0003g0058 a0001c0001t0003g0289 a0001c0001t0005g0216 a0001c0001t0006g0034 a0001c0001t0007g0125 a0001c0001t0007g0183 a0001c0001t0007g0315 a0001c0001t0010g0156 a0001c0001t0018g0192 a0001c0001t0020g0123 a0001c0001t0020g0308 a0001c0001t0024g0035 a0001c0001t0025g0197 a0001c0001t0026g0215 a0001c0001t0032g0273 a0001c0001t0035g0094 a0001c0008t0005g0171 a0002c0003t0003g0115 a0002c0003t0003g0310 a0002c0003t0004g0063 a0005c0013t0002g0159	49	318	0.1541	-32	c.461 others(49): Show c.461-4093_461-4062delACACACACACACACACACAAACACACAC ACAT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6			chr14	TogoVar
ESYT2_chr7_158725997_158834509	158795568	AATGCAGC others(25): Show AATGCAGCCCCTGCGGCCACGTACAGACAGAGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00735.hp1 others(56): Show HG00408.hp1 HG00558.hp1 HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02015.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG04228.hp1 HG06807.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA18998.hp1 NA19005.hp1 NA19030.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0006 a0003c0003 others(5): Show a0001c0001 a0001c0006 a0003c0003 a0003c0016 a0003c0017 a0004c0005 a0004c0018 a0008c0015	a0001c0001t0014 a0001c0001t0017 a0001c0006t0009 others(14): Show a0001c0001t0014 a0001c0001t0017 a0001c0006t0009 a0001c0006t0011 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0012 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0003t0026 a0003c0016t0004 a0003c0017t0002 a0004c0005t0001 a0004c0018t0001 a0008c0015t0004	a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 others(56): Show a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193 a0001c0006t0009g0190 a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0338 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0004g0347 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0007g0325 a0003c0003t0007g0327 a0003c0003t0007g0329 a0003c0003t0007g0337 a0003c0003t0012g0321 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0003t0026g0358 a0003c0016t0004g0078 a0003c0017t0002g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0004c0005t0001g0348 a0004c0005t0001g0350 a0004c0005t0001g0351 a0004c0005t0001g0352 a0004c0005t0001g0353 a0004c0005t0001g0354 a0004c0005t0001g0355 a0004c0005t0001g0356 a0004c0005t0001g0357 a0004c0005t0001g0362 a0004c0005t0001g0363 a0004c0005t0001g0364 a0004c0018t0001g0349 a0008c0015t0004g0342	59	370	0.1595	-32	c.508 others(49): Show c.508-1874_508-1843delGCTCTGTCTGTACGTGGCCGCAGGGGCT GCAT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	3/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158814315	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03225.hp2 others(1): Show HG02572.hp1 HG02723.hp1 HG03225.hp2 NA18954.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0011 a0003c0003t0005 a0001c0006t0011 a0003c0003t0005	a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 others(1): Show a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0003c0003t0005g0248	4	370	0.0108	-32	c.330 others(51): Show c.330+14742_330+14773delCATATATATATATATATATATATATA TATATA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETV6_chr12_11644674_11900377	11893815	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG03041.hp2 others(2): Show HG02572.hp1 HG02622.hp2 HG03041.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0090 a0001c0001t0124 others(1): Show a0001c0001t0031 a0001c0001t0090 a0001c0001t0124 a0001c0001t0125	a0001c0001t0031g0070 a0001c0001t0031g0255 a0001c0001t0090g0081 others(2): Show a0001c0001t0031g0070 a0001c0001t0031g0255 a0001c0001t0090g0081 a0001c0001t0124g0107 a0001c0001t0125g0012	5	262	0.0191	-32	c.27 others(43): Show c.2771_*2802delTATATATATATATATATATATATATACACACA	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	8/8	2771	INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1C_chr21_32407706_32520387	32501984	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02129.hp1 HG01167.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0219 a0001c0002t0001g0310 a0001c0001t0001g0219 a0001c0002t0001g0310	2	346	0.0058	-32	c.859 others(47): Show c.859+528_859+559delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVI5_chr1_92503696_92790108	92513535	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(55): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18962.hp1 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA19005.hp1 NA19030.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0059 a0005c0007t0001	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0059 others(55): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0058 a0001c0001t0008g0122 a0001c0001t0008g0138 a0001c0001t0019g0105 a0001c0001t0019g0106 a0001c0001t0019g0107 a0001c0001t0051g0088 a0001c0001t0052g0112 a0001c0001t0053g0108 a0001c0001t0054g0023 a0001c0001t0059g0168 a0005c0007t0001g0091	58	168	0.3452	-32	c.89 others(40): Show c.89_*120delCATATATATATATATATATATATATATATATA	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	20/20	89		chr1	TogoVar
EXOC2_chr6_480154_698139	501193	CTATATAT others(25): Show CTATATATATTATATATATATTATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp1 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0008t0013g0270 a0001c0008t0013g0271	2	272	0.0074	-32	c.238 others(51): Show c.2381-1525_2381-1494delTAGATATATATAATATATATATAATA TATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133823863	ATATATAT others(25): Show ATATATATATTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19009.hp2 NA19030.hp1 HG02717.hp2 NA19009.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0001 a0001c0004t0001 a0001c0001t0005 a0001c0002t0001 a0001c0004t0001	a0001c0001t0005g0051 a0001c0002t0001g0101 a0001c0004t0001g0016 a0001c0001t0005g0051 a0001c0002t0001g0101 a0001c0004t0001g0016	3	102	0.0294	-32	c.173 others(51): Show c.1734+6329_1734+6360delTATATATATATATATATATATTTTAT ATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857148	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	102	0.0098	-32	c.173 others(53): Show c.1735-38429_1735-38398delATATATATATATATATATATATAT ATATATAT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857293	ATATACAC others(25): Show ATATACACGTATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0045 a0001c0005t0013g0045	1	102	0.0098	-32	c.173 others(53): Show c.1735-38301_1735-38270delCACGTATATATATATATATATATA CACGTATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72512335	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03927.hp2 HG03098.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0041 a0001c0003t0001g0098 a0001c0001t0003g0041 a0001c0003t0001g0098	2	104	0.0192	-32	c.116 others(49): Show c.1167+765_1167+796delTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631445	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	104	0.0096	-32	c.670 others(51): Show c.670-55809_670-55778delCTCTCTCTCTCTCTCTATATATATAT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631447	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG02451.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0040 a0001c0001t0003g0029 a0001c0001t0003g0040	2	104	0.0192	-32	c.670 others(51): Show c.670-55811_670-55780delCTCTCTCTCTCTCTCTCTATATATAT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631449	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03225.hp2 others(1): Show HG02922.hp2 HG03098.hp1 HG03225.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0003t0021	a0001c0001t0003g0041 a0001c0001t0006g0055 a0001c0001t0019g0043 others(1): Show a0001c0001t0003g0041 a0001c0001t0006g0055 a0001c0001t0019g0043 a0001c0003t0021g0089	4	104	0.0385	-32	c.670 others(51): Show c.670-55813_670-55782delCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631451	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp2 HG01109.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0022 a0001c0001t0002 a0001c0003t0022	a0001c0001t0002g0062 a0001c0003t0022g0083 a0001c0001t0002g0062 a0001c0003t0022g0083	2	104	0.0192	-32	c.670 others(51): Show c.670-55815_670-55784delCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631453	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG02258.hp2 others(6): Show HG01168.hp1 HG01515.hp1 HG02258.hp2 HG02572.hp1 HG02717.hp1 HG03516.hp2 HG03540.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0005	a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0002g0027 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0053 a0001c0009t0005g0021	9	104	0.0865	-32	c.670 others(51): Show c.670-55817_670-55786delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631455	TATATATA others(25): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0063 a0001c0001t0018g0063	1	104	0.0096	-32	c.670 others(51): Show c.670-55819_670-55788delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72671749	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0001 a0001c0002t0005 a0001c0003t0001	a0001c0002t0005g0080 a0001c0003t0001g0087 a0001c0002t0005g0080 a0001c0003t0001g0087	2	104	0.0192	-32	c.669 others(51): Show c.669+46322_669+46353delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01884.hp2 others(9): Show HG01123.hp1 HG01243.hp1 HG01884.hp2 HG02486.hp2 HG02818.hp2 HG03486.hp1 HG03516.hp2 HG03704.hp1 NA18747.hp2 NA18950.hp1 NA18971.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0149 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0149 a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0005g0016 a0001c0001t0006g0012 a0001c0001t0006g0100 a0001c0002t0001g0005	12	412	0.0291	-32	c.-36 others(43): Show c.-3636_-3605delACACACACACACACACACACACACACACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXOG_chr3_38491340_38531303	38492773	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01952.hp1 others(16): Show HG00544.hp1 HG01070.hp1 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02165.hp2 HG02970.hp2 HG02976.hp1 HG03831.hp1 HG03831.hp2 NA18946.hp1 NA18964.hp2 NA18999.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19070.hp1 NA20300.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0004c0005t0003 a0005c0006t0003	a0001c0001t0001g0023 a0001c0001t0003g0003 a0001c0001t0003g0019 others(11): Show a0001c0001t0001g0023 a0001c0001t0003g0003 a0001c0001t0003g0019 a0001c0001t0003g0029 a0001c0001t0003g0095 a0001c0001t0003g0116 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0005g0016 a0004c0005t0003g0003 a0005c0006t0003g0128	19	412	0.0461	-32	c.-35 others(43): Show c.-3594_-3563delACACACACACACACACACACACACACACACAT	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3566		chr3	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01515.hp2 HG02630.hp2 others(2): Show HG00609.hp1 HG01515.hp2 HG02630.hp2 HG03098.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0013	a0001c0002t0028 a0001c0004t0011 a0001c0005t0002 others(2): Show a0001c0002t0028 a0001c0004t0011 a0001c0005t0002 a0001c0005t0026 a0001c0013t0018	a0001c0002t0028g0010 a0001c0004t0011g0138 a0001c0005t0002g0115 others(2): Show a0001c0002t0028g0010 a0001c0004t0011g0138 a0001c0005t0002g0115 a0001c0005t0026g0002 a0001c0013t0018g0164	5	190	0.0263	-32	c.963 others(51): Show c.963-21675_963-21644delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	47156123	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	238	0.0042	-32	c.978 others(51): Show c.978+12977_979-12983delCACATATATATATATATATATATATA TATATA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	63937345	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0009 a0017 a0009 a0017	a0009c0006 a0017c0013 a0009c0006 a0017c0013	a0009c0006t0001 a0017c0013t0001 a0009c0006t0001 a0017c0013t0001	a0009c0006t0001g0004 a0017c0013t0001g0017 a0009c0006t0001g0004 a0017c0013t0001g0017	2	24	0.0833	-32	c.705 others(53): Show c.7055+47006_7055+47037delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	35/42			chr6	TogoVar

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