Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERBB4_chr2_211370717_212543802	211580891	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02717.hp1 others(8): Show HG02145.hp1 HG02258.hp2 HG02717.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0003g0050 others(8): Show a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0012g0001 a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0002t0001g0020	11	56	0.1964	-15	c.230 others(36): Show c.2302-18818_2302-18804delATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622987	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	56	0.0179	-15	c.220 others(32): Show c.2202+920_2202+934delATATATATATATTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773597	TTTATATA others(8): Show TTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	-15	c.556 others(34): Show c.556+14413_556+14427delTATATATATATATAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211839152	AAGGAGGA others(8): Show AAGGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0028 a0001c0001t0020g0028	1	56	0.0179	-15	c.422 others(34): Show c.422-51008_422-50994delCCTCCTCCTCCTCCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211873008	GAAAAAGT others(8): Show GAAAAAGTGAAATCTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02145.hp2 others(16): Show HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0013 a0002c0003t0001	a0001c0001t0001g0045 a0001c0001t0002g0047 a0001c0001t0003g0049 others(16): Show a0001c0001t0001g0045 a0001c0001t0002g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0007g0018 a0001c0001t0009g0023 a0001c0001t0010g0005 a0001c0001t0022g0006 a0001c0001t0025g0051 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0029g0054 a0001c0002t0001g0020 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0013g0027 a0002c0003t0001g0014	19	56	0.3393	-15	c.421 others(34): Show c.421+74407_421+74421delAAGATTTCACTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188255	CCTCCCTC others(8): Show CCTCCCTCCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02895.hp1 others(5): Show HG02615.hp1 HG02717.hp1 HG02895.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0002t0018	a0001c0001t0004g0033 a0001c0001t0005g0044 a0001c0001t0006g0026 others(5): Show a0001c0001t0004g0033 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0007g0018 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0002t0018g0010	8	56	0.1429	-15	c.83- others(32): Show c.83-63367_83-63353delAGAAGAGGGAGGGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	-15	c.83- others(34): Show c.83-115749_83-115735delTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212376031	TGCCCTAA others(8): Show TGCCCTAATTGATGAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	56	0.0179	-15	c.82+ others(34): Show c.82+162403_82+162417delTTCATCAATTAGGGC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212496177	TGTTTAAA others(8): Show TGTTTAAAACATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03486.hp1 others(4): Show HG02258.hp2 HG02922.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0004t0021	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0009g0046 others(4): Show a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0009g0046 a0001c0001t0012g0001 a0001c0001t0017g0029 a0001c0001t0025g0051 a0001c0004t0021g0009	7	56	0.1250	-15	c.82+ others(32): Show c.82+42257_82+42271delTAAAATGTTTTAAAC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0298 a0001c0002t0019g0298	1	306	0.0033	-15	c.-57 others(34): Show c.-57-23226_-57-23212delTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66050226	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG01109.hp1 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0261 a0002c0003t0003g0300 a0001c0002t0002g0261 a0002c0003t0003g0300	2	306	0.0065	-15	c.190 others(32): Show c.1904-535_1904-521delTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	994066	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG01891.hp2 others(14): Show HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0013 a0002c0002 others(4): Show a0001c0001 a0001c0013 a0002c0002 a0002c0006 a0002c0007 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0071 a0001c0013t0063 a0002c0002t0038 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0002c0006t0051 a0002c0007t0059 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 others(14): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0045g0066 a0001c0001t0071g0074 a0001c0013t0063g0077 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0006t0051g0081 a0002c0007t0059g0071 a0007c0012t0073g0067 a0008c0011t0044g0068	17	162	0.1049	-15	c.-15 others(34): Show c.-157+2759_-157+2773delAAAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090863	GTTGTTAT others(8): Show GTTGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0003 a0001c0001t0106g0003	1	162	0.0062	-15	c.108 others(34): Show c.1086+7286_1086+7300delGTTATTATTATTATT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1173753	GAATAATG others(8): Show GAATAATGTGGTAACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 others(1): Show a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	4	162	0.0247	-15	c.173 others(34): Show c.1738-6786_1738-6772delAATAATGTGGTAACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1310209	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG04199.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 others(2): Show a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0099	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 others(2): Show a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0099g0131	5	162	0.0309	-15	c.278 others(36): Show c.2780+20217_2780+20231delATTTTATTTTATTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0027 a0001c0001t0067 others(4): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0067 a0001c0001t0138 a0002c0002t0017 a0002c0002t0036 a0002c0002t0085	a0001c0001t0001g0080 a0001c0001t0027g0119 a0001c0001t0067g0121 others(4): Show a0001c0001t0001g0080 a0001c0001t0027g0119 a0001c0001t0067g0121 a0001c0001t0138g0095 a0002c0002t0017g0097 a0002c0002t0036g0158 a0002c0002t0085g0142	7	162	0.0432	-15	c.278 others(36): Show c.2781-30736_2781-30722delTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424829	AGATAGAT others(8): Show AGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0128 a0002c0002t0128	a0002c0002t0128g0054 a0002c0002t0128g0054	1	162	0.0062	-15	c.302 others(36): Show c.3024+16598_3024+16612delGATAGATAGATAGAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440599	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0138 a0002c0002t0070g0138	1	162	0.0062	-15	c.302 others(34): Show c.3025-3961_3025-3947delTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1464511	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02257.hp2 others(3): Show HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02922.hp2 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0036 a0002c0002t0078 others(2): Show a0002c0002t0006 a0002c0002t0036 a0002c0002t0078 a0002c0002t0079 a0002c0002t0129	a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 others(3): Show a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0129g0106	6	162	0.0370	-15	c.321 others(36): Show c.3213+19773_3213+19787delTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1483668	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01891.hp1 others(3): Show HG01175.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02809.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0001c0001t0074 a0002c0002t0002 others(3): Show a0001c0001t0056 a0001c0001t0074 a0002c0002t0002 a0002c0002t0075 a0002c0002t0084 a0002c0002t0127	a0001c0001t0056g0085 a0001c0001t0074g0039 a0002c0002t0002g0090 others(3): Show a0001c0001t0056g0085 a0001c0001t0074g0039 a0002c0002t0002g0090 a0002c0002t0075g0073 a0002c0002t0084g0025 a0002c0002t0127g0155	6	162	0.0370	-15	c.321 others(34): Show c.3214-6401_3214-6387delTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55504989	GCTGTAAG others(8): Show GCTGTAAGATTTGTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG03130.hp2 others(2): Show HG01099.hp1 HG02145.hp2 HG03130.hp2 HG03834.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0034 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0066	5	74	0.0676	-15	c.63 others(26): Show c.6312_*6326delGAACAAATCTTACAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding		3321		chr3	TogoVar
ERC2_chr3_55503311_56473467	55537767	GGAGGACA others(8): Show GGAGGACACAGGTCAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0029 a0001c0002t0001g0003 a0001c0001t0002g0029 a0001c0002t0001g0003	2	74	0.0270	-15	c.40 others(34): Show c.40-26506_*40-26492delATGACCTGTGTCCTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55553011	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	74	0.0135	-15	c.40 others(34): Show c.40-41750_*40-41736delAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691560	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 HG01109.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0058 a0001c0001t0007g0024 a0001c0001t0002g0058 a0001c0001t0007g0024	2	74	0.0270	-15	c.284 others(34): Show c.2848-7716_2848-7702delATTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691562	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03834.hp1 HG03834.hp2 HG01346.hp2 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0003g0070 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0003g0070	3	74	0.0405	-15	c.284 others(34): Show c.2848-7718_2848-7704delATATTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55691564	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp1 HG03195.hp1 others(1): Show HG00741.hp2 HG02630.hp1 HG03195.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0005 a0001c0001t0003g0046 a0001c0002t0001g0014 others(1): Show a0001c0001t0002g0005 a0001c0001t0003g0046 a0001c0002t0001g0014 a0001c0002t0001g0042	4	74	0.0541	-15	c.284 others(34): Show c.2848-7720_2848-7706delATATATTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55942266	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	74	0.0135	-15	c.240 others(34): Show c.2403+8144_2403+8158delAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56242181	ATGGAGGC others(8): Show ATGGAGGCCATTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0060 a0003c0006t0004g0060	1	74	0.0135	-15	c.107 others(36): Show c.1074+53823_1074+53837delGAAAAATGGCCTCCA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56266030	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01346.hp1 others(18): Show HG00741.hp1 HG00741.hp2 HG01346.hp1 HG01934.hp2 HG02040.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0062 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0072 a0001c0001t0003g0051 a0001c0001t0003g0068 a0001c0001t0004g0020 a0001c0001t0009g0073 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0002g0016 a0001c0002t0003g0018 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	21	74	0.2838	-15	c.107 others(36): Show c.1074+29974_1074+29988delATTTTATTTTATTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56299116	TTTGTTTT others(8): Show TTTGTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03834.hp2 HG02647.hp1 HG03098.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0040 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0002g0040 a0001c0001t0007g0002 a0001c0001t0007g0024	3	74	0.0405	-15	c.658 others(32): Show c.658-2696_658-2682delCAAAAAAAAAAACAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56329861	ATATATAT others(8): Show ATATATATATTTCCAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG03540.hp1 HG02630.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042	3	74	0.0405	-15	c.658 others(34): Show c.658-33441_658-33427delGTGGAAATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45350459	CCTCCTGG others(8): Show CCTCCTGGTGGCTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0241 a0001c0002t0034g0241	1	412	0.0024	-15	c.11 others(26): Show c.1155_*1169delAGAAGCCACCAGGAG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	23/23	1155		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45360662	GCCACCAT others(8): Show GCCACCATGTCTGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0009 others(18): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0016 a0001c0020 a0001c0025 a0002c0003 a0002c0005 a0003c0006 a0003c0008 a0004c0004 a0004c0019 a0005c0011 a0007c0021 a0009c0023 a0010c0022 a0011c0024 a0012c0017 a0013c0018 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0002t0002 a0001c0002t0027 a0001c0009t0001 a0001c0010t0001 a0001c0016t0001 a0001c0020t0001 a0001c0025t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0015 a0002c0003t0019 a0002c0003t0021 a0002c0003t0022 a0002c0003t0023 a0002c0003t0037 a0002c0005t0003 a0002c0005t0008 a0002c0005t0020 a0003c0006t0001 a0003c0006t0003 a0003c0006t0009 a0003c0006t0010 a0003c0006t0014 a0003c0008t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0038 a0004c0019t0006 a0005c0011t0001 a0007c0021t0001 a0009c0023t0001 a0010c0022t0007 a0011c0024t0001 a0012c0017t0003 a0013c0018t0017 a0014c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0024 a0001c0001t0002g0096 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0002g0179 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0004g0036 a0001c0001t0004g0062 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0121 a0001c0001t0004g0173 a0001c0001t0006g0119 a0001c0001t0007g0033 a0001c0001t0007g0135 a0001c0001t0007g0286 a0001c0001t0011g0126 a0001c0001t0011g0295 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0016g0124 a0001c0001t0024g0122 a0001c0001t0025g0133 a0001c0001t0029g0147 a0001c0001t0031g0058 a0001c0001t0039g0296 a0001c0002t0002g0066 a0001c0002t0027g0201 a0001c0009t0001g0026 a0001c0010t0001g0158 a0001c0010t0001g0162 a0001c0016t0001g0176 a0001c0020t0001g0195 a0001c0025t0001g0294 a0002c0003t0003g0003 a0002c0003t0003g0012 a0002c0003t0003g0021 a0002c0003t0003g0060 a0002c0003t0003g0065 a0002c0003t0003g0067 a0002c0003t0003g0069 a0002c0003t0003g0076 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0092 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0198 a0002c0003t0003g0269 a0002c0003t0003g0287 a0002c0003t0005g0011 a0002c0003t0005g0082 a0002c0003t0005g0085 a0002c0003t0005g0086 a0002c0003t0008g0075 a0002c0003t0015g0023 a0002c0003t0019g0095 a0002c0003t0021g0059 a0002c0003t0022g0083 a0002c0003t0023g0084 a0002c0003t0037g0191 a0002c0005t0003g0006 a0002c0005t0008g0088 a0002c0005t0020g0087 a0003c0006t0001g0137 a0003c0006t0003g0188 a0003c0006t0009g0139 a0003c0006t0010g0025 a0003c0006t0014g0186 a0003c0006t0014g0196 a0003c0008t0003g0123 a0003c0008t0003g0128 a0003c0008t0003g0171 a0004c0004t0001g0073 a0004c0004t0001g0077 a0004c0004t0001g0091 a0004c0004t0001g0189 a0004c0004t0001g0190 a0004c0004t0002g0013 a0004c0004t0002g0022 a0004c0004t0002g0072 a0004c0004t0038g0071 a0004c0019t0006g0070 a0005c0011t0001g0050 a0007c0021t0001g0160 a0009c0023t0001g0155 a0010c0022t0007g0056 a0011c0024t0001g0131 a0012c0017t0003g0074 a0013c0018t0017g0068 a0014c0028t0001g0199	265	412	0.6432	-15	c.123 others(32): Show c.1237+847_1237+861delGGCCAGACATGGTGG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	12/22			chr19	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02698.hp1 HG01106.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0002 a0001c0001t0001g0055	2	350	0.0057	-15	c.-19 others(26): Show c.-1901_-1887delTTTTTTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1824		chr2	TogoVar
ERCC6L2_chr9_95870691_96023447	95896408	ATTTTTTT others(8): Show ATTTTTTTTTTTTGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(96): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0012 others(6): Show a0001 a0009 a0012 a0014 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0009c0010 a0012c0013 others(6): Show a0001c0001 a0009c0010 a0012c0013 a0014c0016 a0020c0024 a0021c0027 a0022c0026 a0023c0025 a0024c0023	a0001c0001t0001 a0001c0001t0014 a0001c0001t0019 others(22): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0009c0010t0001 a0012c0013t0079 a0014c0016t0001 a0020c0024t0075 a0021c0027t0070 a0022c0026t0001 a0023c0025t0084 a0024c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0014g0001 a0001c0001t0014g0039 a0001c0001t0014g0042 a0001c0001t0014g0066 a0001c0001t0014g0074 a0001c0001t0014g0078 a0001c0001t0019g0209 a0001c0001t0019g0210 a0001c0001t0019g0212 a0001c0001t0019g0213 a0001c0001t0019g0215 a0001c0001t0024g0211 a0001c0001t0024g0217 a0001c0001t0024g0369 a0001c0001t0025g0058 a0001c0001t0025g0096 a0001c0001t0025g0097 a0001c0001t0026g0002 a0001c0001t0036g0037 a0001c0001t0036g0054 a0001c0001t0069g0216 a0001c0001t0071g0214 a0001c0001t0074g0208 a0001c0001t0080g0079 a0001c0001t0081g0038 a0001c0001t0082g0098 a0001c0001t0083g0067 a0001c0001t0085g0064 a0001c0001t0086g0072 a0001c0001t0087g0068 a0009c0010t0001g0046 a0009c0010t0001g0069 a0012c0013t0079g0099 a0014c0016t0001g0084 a0020c0024t0075g0254 a0021c0027t0070g0253 a0022c0026t0001g0049 a0023c0025t0084g0035 a0024c0023t0001g0070	99	392	0.2526	-15	c.472 others(32): Show c.472-1429_472-1415delTGATTTTTTTTTTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERFL_chr19_41902704_41933449	41914800	TCTCCCTC others(8): Show TCTCCCTCCCCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	330	0.0030	-15	c.-13 others(32): Show c.-13-1883_-13-1869delTGGAGGGGGAGGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914802	TCCCTCCC others(8): Show TCCCTCCCCCTCCACC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp2 HG01071.hp1 others(8): Show HG00597.hp1 HG01070.hp2 HG01071.hp1 HG01358.hp2 HG02074.hp1 NA18954.hp2 NA18971.hp1 NA19065.hp2 NA19086.hp2 NA20129.hp1 NA20805.hp1	a0000 a0001 a0005 a0000 a0001 a0005	a0000c0003 a0001c0001 a0005c0009 a0000c0003 a0001c0001 a0005c0009	a0000c0003t0001 a0001c0001t0001 a0001c0001t0003 others(1): Show a0000c0003t0001 a0001c0001t0001 a0001c0001t0003 a0005c0009t0003	a0000c0003t0001g0167 a0001c0001t0001g0101 a0001c0001t0001g0169 others(7): Show a0000c0003t0001g0167 a0001c0001t0001g0101 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0003g0028 a0001c0001t0003g0221 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0268 a0005c0009t0003g0242	11	330	0.0333	-15	c.-13 others(32): Show c.-13-1885_-13-1871delGGTGGAGGGGGAGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914819	TGTCTCCC others(8): Show TGTCTCCCCCCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00621.hp1 others(6): Show HG00408.hp2 HG00558.hp2 HG00621.hp1 HG02129.hp1 HG02132.hp1 HG03239.hp1 NA18995.hp2 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0249 a0001c0001t0003g0250 others(6): Show a0001c0001t0003g0219 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0262 a0001c0001t0003g0270 a0001c0001t0003g0271	9	330	0.0273	-15	c.-13 others(32): Show c.-13-1902_-13-1888delGAAAGGGGGGGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914823	TCCCCCCC others(8): Show TCCCCCCCTTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01109.hp2 others(52): Show HG00423.hp2 HG00621.hp2 HG01109.hp2 HG01258.hp2 HG01261.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18954.hp1 NA18965.hp2 NA19011.hp1 NA19030.hp1 NA19063.hp1 NA19063.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0004t0005	a0001c0001t0001g0191 a0001c0001t0003g0009 a0001c0001t0003g0218 others(45): Show a0001c0001t0001g0191 a0001c0001t0003g0009 a0001c0001t0003g0218 a0001c0001t0003g0225 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0265 a0001c0001t0003g0272 a0001c0001t0011g0214 a0001c0001t0012g0215 a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0031 a0001c0002t0002g0039 a0001c0002t0002g0100 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0162 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0004g0118 a0001c0002t0004g0158 a0001c0002t0004g0209 a0001c0002t0009g0159 a0001c0004t0005g0026 a0001c0004t0005g0027 a0001c0004t0005g0211 a0001c0004t0005g0212 a0001c0004t0005g0213	55	330	0.1667	-15	c.-13 others(32): Show c.-13-1906_-13-1892delGGTGGAAAGGGGGGG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41920343	TGCACTCA others(8): Show TGCACTCAGACGTGAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0215 a0001c0001t0012g0215	1	330	0.0030	-15	c.-13 others(32): Show c.-13-7426_-13-7412delGTCACGTCTGAGTGC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172867019	TGATGATG others(8): Show TGATGATGCAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0299 a0001c0001t0003g0300	2	334	0.0060	-15	c.21- others(32): Show c.21-21647_21-21633delTGATGCAGATGGAGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERH_chr14_69375128_69403299	69391654	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp2 NA19030.hp1 HG02280.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054	3	398	0.0075	-15	c.91+ others(30): Show c.91+3156_91+3170delTTTTTTTTTTTTTTT	ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding	2/3			chr14	TogoVar
ERI1_chr8_8997897_9038338	9007932	ATCCTTTT others(8): Show ATCCTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0245 a0000c0001t0001g0245	1	426	0.0024	-15	c.109 others(28): Show c.109-36_109-22delCCTTTTTTTTTTTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 NA20805.hp1 HG01081.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0311 a0002c0003t0016g0337 a0002c0003t0016g0311 a0002c0003t0016g0337	2	426	0.0047	-15	c.109 others(27): Show c.109-20_109-6delTTTTTTTTTTTTTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44342851	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	340	0.0029	-15	c.212 others(32): Show c.212-3544_212-3530delAAAAAAAAATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342853	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	340	0.0029	-15	c.212 others(32): Show c.212-3546_212-3532delAAAAAAAAAAATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	696401	CTCCACTC others(8): Show CTCCACTCCTCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	378	0.0027	-15	c.170 others(32): Show c.170-3804_170-3790delAAGGAGAGGAGTGGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	726673	GTACACAG others(8): Show GTACACAGGCACATCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(13): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0013 a0011c0010 a0001c0001 a0001c0013 a0011c0010	a0001c0001t0002 a0001c0013t0001 a0011c0010t0002 a0001c0001t0002 a0001c0013t0001 a0011c0010t0002	a0001c0001t0002g0254 a0001c0001t0002g0352 a0001c0001t0002g0353 others(13): Show a0001c0001t0002g0254 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0013t0001g0210 a0011c0010t0002g0356	16	378	0.0423	-15	c.22+ others(30): Show c.22+4452_22+4466delTGATGTGCCTGTGTA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	1/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98079153	CTTTTTTT others(8): Show CTTTTTTTTTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(19): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG02602.hp2 HG02683.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 NA20805.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0005c0004 a0010c0011 a0001c0001 a0005c0004 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0005c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0005c0004t0001 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0219 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0377 a0001c0001t0002g0060 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0290 a0001c0001t0002g0376 a0001c0001t0002g0379 a0005c0004t0001g0072 a0010c0011t0001g0126	22	442	0.0498	-15	c.59- others(30): Show c.59-9911_59-9897delCCTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98080582	TCCTTCTT others(8): Show TCCTTCTTCTCCTTCA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0168 a0006c0006t0001g0168	1	442	0.0023	-15	c.59- others(30): Show c.59-8479_59-8465delACCTTCTTCTCCTTC	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

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