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
ENOSF1_chr18_665318_717630	667592	TGGTGATG others(18): Show TGGTGATGGTGATGGTGATGGAGATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0387 a0003c0004t0003g0387	1	418	0.0024	-25	c.66 others(36): Show c.6688_*6712delCATCTCCATCACCATCACCATCACC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2725		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247850	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	188	0.0053	-25	c.161 others(46): Show c.1612-11137_1612-11113delTATATATATATATATATATATATA T	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247852	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG03486.hp2 HG02280.hp2 HG02622.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0009 a0003c0011t0004 a0001c0001t0009 a0003c0011t0004	a0001c0001t0009g0020 a0001c0001t0009g0072 a0003c0011t0004g0119 a0001c0001t0009g0020 a0001c0001t0009g0072 a0003c0011t0004g0119	3	188	0.0160	-25	c.161 others(46): Show c.1612-11139_1612-11115delTATATATATATATATATATATATA T	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460806	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp2 HG02109.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0003 a0002c0004t0024 a0001c0005t0003 a0002c0004t0024	a0001c0005t0003g0120 a0002c0004t0024g0051 a0001c0005t0003g0120 a0002c0004t0024g0051	2	188	0.0106	-25	c.-75 others(44): Show c.-75+23178_-75+23202delATTTTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0018 a0001c0002t0016g0018	1	188	0.0053	-25	c.-42 others(36): Show c.-4241_-4217delTTTTTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENPP1_chr6_131803020_131900155	131834711	TTTTTAGT others(18): Show TTTTTAGTAGAGACGGGGTTTCACCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01069.hp2 others(35): Show HG00609.hp2 HG00673.hp1 HG01069.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01433.hp1 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02273.hp2 HG02523.hp2 HG02683.hp2 HG02976.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG04199.hp2 HG06807.hp1 NA18941.hp2 NA18954.hp1 NA18955.hp1 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19007.hp1 NA19054.hp1 NA19070.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0002c0002 a0002c0023 others(3): Show a0001c0001 a0002c0002 a0002c0023 a0002c0024 a0004c0013 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0018 a0002c0002t0032 a0002c0002t0050 a0002c0002t0077 a0002c0023t0060 a0002c0024t0006 a0004c0013t0002 a0004c0013t0075 a0012c0014t0004	a0001c0001t0001g0026 a0001c0001t0002g0045 a0001c0001t0002g0056 others(35): Show a0001c0001t0001g0026 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0089 a0001c0001t0007g0065 a0001c0001t0007g0080 a0001c0001t0013g0048 a0002c0002t0001g0061 a0002c0002t0001g0227 a0002c0002t0003g0088 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0068 a0002c0002t0004g0078 a0002c0002t0004g0092 a0002c0002t0004g0096 a0002c0002t0004g0185 a0002c0002t0004g0228 a0002c0002t0008g0238 a0002c0002t0018g0084 a0002c0002t0032g0071 a0002c0002t0050g0121 a0002c0002t0077g0072 a0002c0023t0060g0020 a0002c0024t0006g0022 a0004c0013t0002g0122 a0004c0013t0075g0123 a0012c0014t0004g0074	38	292	0.1301	-25	c.241 others(44): Show c.241-13038_241-13014delTTTAGTAGAGACGGGGTTTCACCAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0207 a0001c0003t0002g0207	1	430	0.0023	-25	c.44 others(36): Show c.4419_*4443delAAAAAAAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTPD4_chr8_23424162_23462647	23457292	CCGCCAGG others(18): Show CCGCCAGGTGTCCCCTGCCAGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp1 others(5): Show HG01167.hp2 HG01169.hp1 HG02486.hp1 HG02622.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019	a0001c0001t0010g0014 a0001c0001t0018g0039 a0001c0001t0019g0040 a0001c0001t0010g0014 a0001c0001t0018g0039 a0001c0001t0019g0040	8	412	0.0194	-25	c.-98 others(40): Show c.-98+240_-98+264delAGCCCCTGGCAGGGGACACCTGGCG	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	1/12			chr8	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(28): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01257.hp2 HG01891.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 HG03834.hp1 NA18906.hp2 NA18962.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(16): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0039 a0002c0003 a0002c0005 a0002c0009 a0002c0012 a0002c0015 a0002c0021 a0003c0007 a0003c0034 a0005c0016 a0005c0018 a0007c0022 a0008c0025 a0008c0040	a0001c0001t0004 a0001c0002t0001 a0001c0008t0007 others(22): Show a0001c0001t0004 a0001c0002t0001 a0001c0008t0007 a0001c0010t0004 a0001c0011t0010 a0001c0039t0038 a0002c0003t0005 a0002c0003t0032 a0002c0003t0035 a0002c0005t0005 a0002c0005t0011 a0002c0009t0003 a0002c0012t0009 a0002c0015t0012 a0002c0015t0044 a0002c0021t0003 a0003c0007t0002 a0003c0007t0042 a0003c0007t0050 a0003c0034t0002 a0005c0016t0006 a0005c0018t0006 a0007c0022t0017 a0008c0025t0002 a0008c0040t0012	a0001c0001t0004g0022 a0001c0002t0001g0054 a0001c0002t0001g0055 others(28): Show a0001c0001t0004g0022 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0082 a0001c0008t0007g0115 a0001c0010t0004g0018 a0001c0011t0010g0116 a0001c0039t0038g0049 a0002c0003t0005g0063 a0002c0003t0032g0109 a0002c0003t0035g0104 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0005t0011g0020 a0002c0005t0011g0023 a0002c0009t0003g0077 a0002c0012t0009g0091 a0002c0012t0009g0092 a0002c0015t0012g0008 a0002c0015t0044g0083 a0002c0021t0003g0085 a0003c0007t0002g0087 a0003c0007t0002g0121 a0003c0007t0042g0038 a0003c0007t0050g0125 a0003c0034t0002g0046 a0005c0016t0006g0079 a0005c0018t0006g0084 a0007c0022t0017g0043 a0008c0025t0002g0090 a0008c0040t0012g0025	31	125	0.2480	-25	c.277 others(44): Show c.277-54211_277-54187delAAAAAAAAAAAAAAAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
EOLA1_chrX_149536012_149553331	149544181	GGAGTGAG others(18): Show GGAGTGAGCCAGAGGAGCAGGGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0105 a0002c0002t0005g0105	1	315	0.0032	-25	c.-16 others(44): Show c.-162-1183_-162-1159delTGAGCCAGAGGAGCAGGGTCCAGAG	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EOLA2_chrX_149927197_149943491	149935296	GCTCTGGA others(18): Show GCTCTGGACCCTGCTCCTCTGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02109.hp2 others(16): Show HG01243.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0003 a0001c0007t0014 a0002c0002t0001 a0001c0001t0003 a0001c0007t0014 a0002c0002t0001	a0001c0001t0003g0012 a0001c0007t0014g0121 a0002c0002t0001g0006 others(4): Show a0001c0001t0003g0012 a0001c0007t0014g0121 a0002c0002t0001g0006 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0081	19	331	0.0574	-25	c.-16 others(44): Show c.-162-1184_-162-1160delTGAGCCAGAGGAGCAGGGTCCAGAG	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding	2/4			chrX	TogoVar
EPB41L4A_chr5_112157619_112424277	112408694	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01361.hp2 HG02109.hp2 others(2): Show HG01071.hp1 HG01361.hp2 HG02109.hp2 HG02647.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0029 a0001c0001t0046 others(2): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0046 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0103 a0001c0001t0029g0005 a0001c0001t0046g0104 others(2): Show a0001c0001t0001g0103 a0001c0001t0029g0005 a0001c0001t0046g0104 a0001c0002t0001g0105 a0002c0003t0002g0006	5	228	0.0219	-25	c.99+ others(42): Show c.99+10222_99+10246delCTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L5_chr2_120008077_120184119	120083202	GTCAGTTT others(18): Show GTCAGTTTTAGATCTTTCCTGCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0137 a0001c0001t0009g0138	2	278	0.0072	-25	c.804 others(42): Show c.804-3966_804-3942delAGTTTTAGATCTTTCCTGCTTTCTC	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 NA18939.hp2 NA18970.hp2 others(1): Show HG03491.hp2 NA18939.hp2 NA18970.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0092 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096	4	450	0.0089	-25	c.-39 others(36): Show c.-3993_-3969delTATATATATATATATATATATATTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3798		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01258.hp2 others(19): Show HG00738.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01978.hp1 HG02083.hp2 HG02273.hp1 HG02486.hp1 HG02615.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 HG03540.hp2 HG03831.hp1 NA18939.hp1 NA18957.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0007g0020	22	450	0.0489	-25	c.-39 others(36): Show c.-3991_-3967delTATATATATATATATATATATTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	450	0.0022	-25	c.-39 others(36): Show c.-3989_-3965delTATATATATATATATATATTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3794		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	450	0.0022	-25	c.859 others(42): Show c.859-1538_859-1514delTTTTTTTTTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp1 HG02615.hp2 NA19030.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0002 a0002c0011t0001 a0002c0011t0002	a0002c0011t0001g0031 a0002c0011t0002g0015 a0002c0011t0001g0031 a0002c0011t0002g0015	2	382	0.0052	-25	c.149 others(44): Show c.1492-1306_1492-1282delAAAAAAAAAAAAAAAAAAAAAAAAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA6_chr3_96809594_97766532	96913188	ACACACAC others(18): Show ACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0028 a0001c0001t0002g0029	2	82	0.0244	-25	c.450 others(44): Show c.450+46309_450+46333delACACACACACACACACCACACACAC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97492547	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	82	0.0122	-25	c.220 others(44): Show c.2200+8511_2200+8535delAAAAAAAAAAAAAAAAAAAAAAAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97758335	TTTAAACT others(18): Show TTTAAACTATATAACAAATATAACCG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02258.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0064 a0001c0001t0010g0077 a0001c0001t0010g0064 a0001c0001t0010g0077	2	82	0.0244	-25	c.96 others(36): Show c.9636_*9660delTAAACTATATAACAAATATAACCGT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	18/18	9636	INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp2 HG03209.hp2 HG01243.hp1 HG02895.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0053 a0001c0001t0003g0090 a0001c0003t0002g0088 a0001c0001t0003g0053 a0001c0001t0003g0090 a0001c0003t0002g0088	3	134	0.0224	-25	c.805 others(42): Show c.805+7932_805+7956delTTTTTTTTTTTTTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183021	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp2 NA19240.hp2 HG02622.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0055 a0001c0001t0003g0083 a0001c0001t0007g0027 a0001c0001t0001g0055 a0001c0001t0003g0083 a0001c0001t0007g0027	3	134	0.0224	-25	c.188 others(44): Show c.1882+3047_1882+3071delTCTTTCTTTCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPS15_chr1_51349263_51524266	51508186	GAGAAAAG others(18): Show GAGAAAAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0044 a0002c0001t0010g0044	1	152	0.0066	-25	c.33+ others(42): Show c.33+10988_33+11012delTTTCTTTTCTTTTCTTTTCTTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
ERBB4_chr2_211370717_212543802	211580787	GATATATA others(18): Show GATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02615.hp1 others(16): Show HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0002t0001 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0025 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0011g0041 a0001c0001t0012g0001 a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0002t0001g0020 a0001c0004t0021g0009	19	56	0.3393	-25	c.230 others(46): Show c.2302-18724_2302-18700delTATATATATATATATATATATATA T	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	-25	c.187 others(44): Show c.1871+3260_1871+3284delTTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211861024	ATATAAAT others(18): Show ATATAAATATAATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02615.hp2 others(7): Show HG01891.hp2 HG02258.hp2 HG02615.hp2 HG02895.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0004t0021	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 others(7): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0004g0008 a0001c0001t0005g0035 a0001c0001t0007g0043 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0028g0053 a0001c0004t0021g0009	10	56	0.1786	-25	c.422 others(44): Show c.422-72890_422-72866delAATATATAAATATATTATATTTATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211935606	AGGCCAGG others(18): Show AGGCCAGGTCACCAGCCTCCGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01192.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0008g0004 a0001c0001t0008g0013	2	56	0.0357	-25	c.421 others(44): Show c.421+11799_421+11823delCACCTCGGAGGCTGGTGACCTGGCC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212062399	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02145.hp2 HG02717.hp1 others(13): Show HG01069.hp1 HG02145.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0004t0021 a0002c0003t0001	a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0049 others(13): Show a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0004g0011 a0001c0001t0005g0044 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0023 a0001c0001t0011g0042 a0001c0001t0017g0029 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0004t0021g0009 a0002c0003t0001g0014	16	56	0.2857	-25	c.234 others(44): Show c.234+62328_234+62352delAAAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212191677	TGTGTTAT others(18): Show TGTGTTATACATGTTACATATAACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	-25	c.83- others(42): Show c.83-66799_83-66775delGTGTTATATGTAACATGTATAACAC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212466967	TGACTCTT others(18): Show TGACTCTTGTTATGTTTTAGCAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0056 a0001c0001t0030g0056	1	56	0.0179	-25	c.82+ others(42): Show c.82+71457_82+71481delTCTTTGCTAAAACATAACAAGAGTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1247046	TTGAGCCC others(18): Show TTGAGCCCAGGAGTTTGAGGTTGCAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01361.hp2 others(4): Show HG01175.hp2 HG01257.hp1 HG01361.hp2 HG01891.hp1 HG02809.hp2 HG03195.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0005 a0001c0001t0033 a0001c0001t0056 others(4): Show a0001c0001t0005 a0001c0001t0033 a0001c0001t0056 a0001c0001t0058 a0001c0001t0074 a0002c0002t0037 a0006c0009t0025	a0001c0001t0005g0041 a0001c0001t0033g0111 a0001c0001t0056g0085 others(4): Show a0001c0001t0005g0041 a0001c0001t0033g0111 a0001c0001t0056g0085 a0001c0001t0058g0141 a0001c0001t0074g0039 a0002c0002t0037g0042 a0006c0009t0025g0110	7	162	0.0432	-25	c.248 others(46): Show c.2487+10244_2487+10268delGAGCCCAGGAGTTTGAGGTTGCAG T	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720210	TCTTCTTC others(18): Show TCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	74	0.0135	-25	c.271 others(46): Show c.2712+14536_2712+14560delGAAGAAGAAGAAGAAGAAGAAGAA G	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799398	TATATATA others(18): Show TATATATATATGCCTTATATATATGC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	74	0.0135	-25	c.256 others(46): Show c.2565-64505_2565-64481delGCATATATATAAGGCATATATATA T	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56266030	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	74	0.0135	-25	c.107 others(46): Show c.1074+29964_1074+29988delATTTTATTTTATTTTATTTTATTT T	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC8_chr5_60861454_60950070	60938067	ATATATAT others(18): Show ATATATATATATATATATATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02080.hp1 HG01346.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0158 a0001c0001t0011g0157 a0001c0001t0001g0158 a0001c0001t0011g0157	2	302	0.0066	-25	c.77+ others(40): Show c.77+6840_77+6864delAATAAAATATATATATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539557	TATATATA others(18): Show TATATATAACAGTTTATATATATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(164): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0003t0001g0043 a0001c0003t0001g0116 a0001c0003t0001g0176 a0001c0003t0001g0181 a0001c0003t0001g0189 a0001c0003t0001g0192 a0001c0003t0001g0193	167	364	0.4588	-25	c.-25 others(36): Show c.-2540_-2516delATATATAACAGTTTATATATATAAA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2520		chr20	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04228.hp1 HG02683.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0334 a0001c0001t0001g0182 a0001c0001t0001g0334	2	442	0.0045	-25	c.59- others(40): Show c.59-3922_59-3898delTTTTTTTTTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606522	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0197 a0004c0004t0001g0197	1	326	0.0031	-25	c.-59 others(42): Show c.-59+1017_-59+1041delTATATATATATATATATATATATAT	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606529	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18995.hp1 HG01255.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0154 a0002c0002t0001g0155	2	326	0.0061	-25	c.-59 others(42): Show c.-59+1010_-59+1034delAAAAAAATATATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45606531	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	326	0.0031	-25	c.-59 others(42): Show c.-59+1008_-59+1032delAAAAAAAAATATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERLIN2_chr8_37731634_37763422	37738356	TCCTCTGG others(18): Show TCCTCTGGCAGTCTTAGCTCTACATC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 NA18906.hp2 HG01884.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	3	224	0.0134	-25	c.107 others(40): Show c.107+376_107+400delTCCCTCTGGCAGTCTTAGCTCTACA	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERP44_chr9_99974185_100104000	100017017	TTTAGAAG others(18): Show TTTAGAAGAAAATGTGGATAGTGAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	220	0.0046	-25	c.646 others(40): Show c.646-604_646-580delTTTCACTATCCACATTTTCTTCTAA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	7/11			chr9	TogoVar
ESRP1_chr8_94636174_94712466	94658176	GTGCTGGG others(18): Show GTGCTGGGATTACAGGCGTGAGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0352 a0001c0006t0001g0352	1	374	0.0027	-25	c.491 others(42): Show c.491-4095_491-4071delTGCTGGGATTACAGGCGTGAGCCAC	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	4/15			chr8	TogoVar
ESRRB_chr14_76371137_76506837	76461478	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03098.hp2 HG03579.hp2 others(2): Show HG00099.hp2 HG03098.hp2 HG03579.hp2 HG03654.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0030 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0030 a0001c0002t0003 a0002c0004t0004	a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284 others(2): Show a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284 a0001c0002t0003g0298 a0002c0004t0004g0297	5	318	0.0157	-25	c.461 others(42): Show c.461-1043_461-1019delTGTTTTGTTTTGTTTTGTTTTGTTT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216658848	AAGAAGAG others(18): Show AAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG06807.hp2 others(2): Show HG02572.hp1 HG02896.hp2 HG06807.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0004 a0001c0001t0003 a0001c0002t0002 a0001c0003t0004	a0001c0001t0003g0054 a0001c0002t0002g0038 a0001c0003t0004g0014 others(2): Show a0001c0001t0003g0054 a0001c0002t0002g0038 a0001c0003t0004g0014 a0001c0003t0004g0018 a0001c0003t0004g0024	5	286	0.0175	-25	c.473 others(42): Show c.473-7784_473-7760delCTTCTCTTCTCTTCTCTTCTCTTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ETF1_chr5_138501095_138548236	138501258	AAAAGAAA others(18): Show AAAAGAAAGAAAGAAAAAGAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	334	0.0030	-25	c.70 others(36): Show c.7022_*7046delCTTTTTTCTTTTTCTTTCTTTCTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4836		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512244	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	334	0.0030	-25	c.732 others(40): Show c.732+495_732+519delAAAAAAAAAAATATATATATATATA	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFB_chr19_51340169_51371388	51362417	AAAATACA others(18): Show AAAATACAAAAATTAGCCAGGCGTGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG04184.hp1 others(1): Show HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0244 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0254	4	436	0.0092	-25	c.57+ others(40): Show c.57+3828_57+3852delCCACGCCTGGCTAATTTTTGTATTT	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	1/5			chr19	TogoVar
ETS2_chr21_38800929_38829955	38816042	AGAGGGAG others(18): Show AGAGGGAGGGAGGGAGGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp2 NA18997.hp2 others(1): Show HG00558.hp1 HG01433.hp2 NA18997.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0260 a0001c0002t0002g0268 others(1): Show a0001c0002t0002g0214 a0001c0002t0002g0260 a0001c0002t0002g0268 a0001c0002t0002g0276	4	426	0.0094	-25	c.506 others(40): Show c.506-923_506-899delGAGGGAGGGAGGGAGGGAGGGAGGG	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar

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