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
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03491.hp1 NA18944.hp1 others(1): Show HG01361.hp1 HG03491.hp1 NA18944.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0131 a0001c0001t0002g0111	4	312	0.0128	32	c.-8+ others(49): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp1 HG02602.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0029 a0001c0001t0011 a0001c0001t0029	a0001c0001t0011g0145 a0001c0001t0029g0255 a0001c0001t0011g0145 a0001c0001t0029g0255	2	312	0.0064	32	c.-8+ others(49): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	312	0.0032	32	c.468 others(49): Show c.468+2400_468+2431dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02559.hp2 others(4): Show HG01884.hp2 HG02451.hp2 HG02559.hp2 HG03471.hp2 HG03579.hp1 NA20752.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0020 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0001t0020 a0001c0002t0003 a0001c0002t0007 a0005c0011t0020	a0001c0001t0020g0214 a0001c0002t0003g0191 a0001c0002t0003g0196 others(4): Show a0001c0001t0020g0214 a0001c0002t0003g0191 a0001c0002t0003g0196 a0001c0002t0003g0226 a0001c0002t0007g0203 a0001c0002t0007g0213 a0005c0011t0020g0212	7	312	0.0224	32	c.468 others(49): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0181 a0002c0002t0004g0181	1	200	0.0050	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02602.hp1 HG02717.hp1 others(1): Show HG00735.hp1 HG02602.hp1 HG02717.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012	a0001c0001t0001g0144 a0002c0002t0002g0145 a0002c0002t0004g0184 others(1): Show a0001c0001t0001g0144 a0002c0002t0002g0145 a0002c0002t0004g0184 a0002c0002t0012g0194	4	200	0.0200	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02970.hp1 HG03098.hp1 others(1): Show HG02132.hp2 HG02970.hp1 HG03098.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0003t0003 a0002c0005t0005 a0002c0003t0002 a0002c0003t0003 a0002c0005t0005	a0002c0003t0002g0008 a0002c0003t0003g0019 a0002c0003t0003g0026 others(1): Show a0002c0003t0002g0008 a0002c0003t0003g0019 a0002c0003t0003g0026 a0002c0005t0005g0081	4	200	0.0200	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18960.hp2 NA18522.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0188 a0002c0003t0003g0013 a0002c0003t0003g0188	2	200	0.0100	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65438431	T T	TATGTATC others(25): Show TATGTATCCATATATATATACATTCATGTATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	234	0.0043	32	c.140 others(53): Show c.1403-17898_1403-17867dupTTATACATGAATGTATATATATAT GGATACAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574667	C C	CACATATA others(25): Show CACATATATATACATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0147 a0001c0001t0021g0147	1	234	0.0043	32	c.910 others(51): Show c.910+26973_910+26974insATATATATGTATATATATATGTATAT ATATGT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574675	T T	TATATACA others(25): Show TATATACACATATATATACACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG03041.hp1 others(11): Show HG00621.hp1 HG02523.hp2 HG03041.hp1 HG03688.hp1 HG04204.hp1 NA18971.hp1 NA18973.hp1 NA18993.hp1 NA19002.hp2 NA19006.hp2 NA19066.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0004g0024 a0001c0001t0006g0036 a0001c0001t0024g0025 others(11): Show a0001c0001t0004g0024 a0001c0001t0006g0036 a0001c0001t0024g0025 a0001c0001t0024g0026 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0100 a0001c0002t0002g0163 a0001c0004t0001g0126	14	234	0.0598	32	c.910 others(51): Show c.910+26965_910+26966insGTGTATATATATGTGTATATATATGT GTATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65579358	G G	GTATATAT others(25): Show GTATATATATATATATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0022 a0001c0013t0001g0022	1	234	0.0043	32	c.910 others(51): Show c.910+22282_910+22283insTATATATTTATATATATATATATATA TATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65598517	C C	CCGCTACT others(25): Show CCGCTACTCCTGCCATCAAGGTGTATGTGGACT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	234	0.0043	32	c.910 others(49): Show c.910+3092_910+3123dupAGTCCACATACACCTTGATGGCAGGAGT AGCG	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994759	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	82	0.0122	32	c.111 others(51): Show c.1114+6769_1114+6770insAGAGAGAGAGAGAGAGAGAGAGAGCG AGCGAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001016	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0023 a0001c0004t0001 a0001c0004t0023	a0001c0004t0001g0075 a0001c0004t0023g0073 a0001c0004t0001g0075 a0001c0004t0023g0073	2	82	0.0244	32	c.111 others(53): Show c.1114+13023_1114+13024insTATATATATATATATATATATATA TATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG03225.hp2 others(1): Show HG02615.hp2 HG02886.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0003t0004 a0001c0006t0021 a0001c0002t0001 a0001c0003t0004 a0001c0006t0021	a0001c0002t0001g0025 a0001c0002t0001g0044 a0001c0003t0004g0004 others(1): Show a0001c0002t0001g0025 a0001c0002t0001g0044 a0001c0003t0004g0004 a0001c0006t0021g0049	4	82	0.0488	32	c.111 others(53): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT ATATATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG03225.hp1 others(1): Show HG02055.hp2 HG02572.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 others(1): Show a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0003t0004	a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0030 others(1): Show a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0030 a0001c0003t0004g0010	4	82	0.0488	32	c.111 others(53): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA8_chr1_22558489_22608595	22599641	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	342	0.0029	32	c.238 others(49): Show c.2388+641_2388+672dupAAAGGAGGGAGGGAGGAAGGAGGGAAGG AAGG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134816053	A A	ACTTCTGA others(25): Show ACTTCTGAATGGCTTCCTGAACAGATAGAATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(127): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0002c0014 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0009 a0001c0004t0014 a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0006t0026 a0001c0007t0003 a0001c0007t0007 a0001c0007t0009 a0001c0008t0008 a0001c0009t0004 a0001c0010t0008 a0001c0011t0023 a0001c0013t0001 a0001c0015t0008 a0001c0016t0001 a0002c0014t0002 a0003c0012t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 others(127): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0047 a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0012g0076 a0001c0001t0014g0029 a0001c0001t0015g0109 a0001c0001t0017g0059 a0001c0001t0021g0058 a0001c0001t0024g0107 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0002g0011 a0001c0002t0002g0073 a0001c0002t0004g0110 a0001c0002t0006g0072 a0001c0002t0006g0074 a0001c0002t0006g0125 a0001c0002t0007g0026 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0011g0098 a0001c0002t0015g0108 a0001c0002t0016g0114 a0001c0002t0016g0116 a0001c0002t0018g0121 a0001c0002t0019g0075 a0001c0002t0025g0118 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0089 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0054 a0001c0003t0004g0106 a0001c0003t0004g0113 a0001c0003t0004g0119 a0001c0003t0005g0099 a0001c0003t0006g0063 a0001c0003t0007g0044 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0004t0001g0010 a0001c0004t0001g0020 a0001c0004t0001g0022 a0001c0004t0001g0030 a0001c0004t0001g0045 a0001c0004t0001g0056 a0001c0004t0001g0067 a0001c0004t0001g0069 a0001c0004t0001g0084 a0001c0004t0001g0128 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0004t0002g0033 a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0077 a0001c0004t0002g0093 a0001c0004t0002g0127 a0001c0004t0003g0105 a0001c0004t0004g0111 a0001c0004t0004g0112 a0001c0004t0005g0097 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0005t0001g0025 a0001c0005t0003g0131 a0001c0005t0013g0129 a0001c0005t0013g0130 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0006t0026g0117 a0001c0007t0003g0068 a0001c0007t0007g0043 a0001c0007t0009g0028 a0001c0008t0008g0024 a0001c0009t0004g0001 a0001c0010t0008g0104 a0001c0011t0023g0115 a0001c0013t0001g0007 a0001c0015t0008g0013 a0001c0016t0001g0071 a0002c0014t0002g0031 a0003c0012t0001g0122	130	134	0.9702	32	c.58+ others(49): Show c.58+20367_58+20368insCTGAATGGCTTCCTGAACAGATAGAATA GCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183242	C C	CCCTTCCT others(25): Show CCCTTCCTCCCTCCCTCCCTTTCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0018 a0001c0004t0014g0018	1	134	0.0075	32	c.188 others(51): Show c.1882+3264_1882+3265insCCTCCCTCCCTCCCTTTCTTCCTTCC TTCCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	236	0.0042	32	c.231 others(47): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGTGTGTGTGAG TG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPM2A_chr6_145620305_145740520	145623789	C C	CACATTGG others(25): Show CACATTGGCTCTGACCAGGGTTGTTCAGTAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	320	0.0031	32	c.35 others(43): Show c.3595_*3626dupCTTTACTGAACAACCCTGGTCAGAGCCAATGT	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding		1515		chr6	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	282	0.0036	32	c.114 others(51): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	358	0.0028	32	c.432 others(49): Show c.4323+273_4323+274insGTGTGTGTATATATATATATATATATAT ATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01433.hp1 others(12): Show HG01069.hp1 HG01069.hp2 HG01433.hp1 HG02257.hp2 HG02280.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 NA19012.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0026 a0001c0001 a0018c0026	a0001c0001t0002 a0018c0026t0002 a0001c0001t0002 a0018c0026t0002	a0001c0001t0002g0010 a0001c0001t0002g0067 a0001c0001t0002g0070 others(12): Show a0001c0001t0002g0010 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0191 a0001c0001t0002g0244 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0310 a0001c0001t0002g0347 a0018c0026t0002g0086	15	358	0.0419	32	c.432 others(49): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42926026	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19011.hp1 HG02486.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0142 a0001c0001t0006g0296 a0001c0001t0004g0142 a0001c0001t0006g0296	2	352	0.0057	32	c.657 others(47): Show c.657+309_657+310insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(68): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18946.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18986.hp1 NA18994.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0004c0012 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0057 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0027 a0001c0005t0002 a0001c0007t0006 a0004c0012t0006 a0004c0013t0006	a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0223 others(68): Show a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0223 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0299 a0001c0001t0004g0039 a0001c0001t0004g0058 a0001c0001t0004g0078 a0001c0001t0004g0093 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0008g0012 a0001c0001t0008g0060 a0001c0001t0012g0336 a0001c0001t0013g0096 a0001c0001t0013g0110 a0001c0001t0016g0258 a0001c0001t0016g0340 a0001c0001t0016g0349 a0001c0001t0017g0159 a0001c0001t0017g0174 a0001c0001t0019g0325 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0155 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0021g0170 a0001c0001t0024g0209 a0001c0001t0024g0339 a0001c0001t0028g0197 a0001c0001t0029g0040 a0001c0001t0034g0171 a0001c0001t0057g0195 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0003g0330 a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0072 a0001c0002t0005g0149 a0001c0002t0006g0247 a0001c0002t0006g0257 a0001c0002t0007g0350 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0009g0130 a0001c0002t0010g0291 a0001c0002t0010g0318 a0001c0002t0011g0147 a0001c0002t0011g0156 a0001c0002t0027g0063 a0001c0005t0002g0263 a0001c0005t0002g0286 a0001c0007t0006g0262 a0001c0007t0006g0264 a0004c0012t0006g0302 a0004c0013t0006g0198	71	352	0.2017	32	c.657 others(47): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB3_chr12_56075165_56108505	56098011	C C	CTTCCAGA others(25): Show CTTCCAGAGGCAAGCAGATGCTTCATGGTAAGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0115 a0011c0010t0002g0115	1	392	0.0026	32	c.261 others(48): Show c.2616+73_2616+104dupTCCAGAGGCAAGCAGATGCTTCATGGTAA GTT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211562769	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19043.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0044 a0001c0001t0017g0029 a0001c0001t0005g0044 a0001c0001t0017g0029	2	56	0.0357	32	c.230 others(49): Show c.2302-682_2302-681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	56	0.0179	32	c.230 others(53): Show c.2301+19663_2301+19664insCACACACACACACACACACACACA CACACACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772852	T T	TATATATA others(25): Show TATATATACACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	56	0.0179	32	c.556 others(51): Show c.556+15172_556+15173insGTGTATATATATATATATATATGTGT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003099	C C	CAGAAAGA others(25): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG03453.hp2 others(1): Show HG01192.hp1 HG01192.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024	a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0008g0013 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0008g0013 a0001c0001t0024g0038	4	56	0.0714	32	c.235 others(51): Show c.235-55484_235-55483insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	56	0.0179	32	c.83- others(49): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0023 a0001c0002t0001g0020 a0001c0001t0009g0023 a0001c0002t0001g0020	2	56	0.0357	32	c.83- others(51): Show c.83-206169_83-206168insGTATATATATATATATATATATATAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	56	0.0179	32	c.82+ others(51): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373999	T T	TATATATA others(25): Show TATATATATCCATATATATATCCATATATATCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	56	0.0179	32	c.82+ others(51): Show c.82+164449_82+164450insGGATATATATGGATATATATATGGAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(25): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20129.hp2 HG02735.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0068 a0001c0003t0022 a0001c0001t0068 a0001c0003t0022	a0001c0001t0068g0083 a0001c0003t0022g0114 a0001c0001t0068g0083 a0001c0003t0022g0114	2	162	0.0124	32	c.156 others(51): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTCTATCTGT GTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(25): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(40): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01517.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18949.hp1 NA18949.hp2 NA18966.hp1 NA19030.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(39): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0032 a0001c0001t0040 a0001c0001t0043 a0001c0001t0049 a0001c0001t0069 a0001c0001t0086 a0001c0001t0093 a0001c0001t0095 a0001c0001t0097 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0126 a0001c0001t0138 a0001c0001t0141 a0001c0003t0088 a0002c0002t0005 a0002c0002t0035 a0002c0002t0036 a0002c0002t0081 a0002c0002t0098 a0002c0002t0101 a0002c0002t0102 a0002c0002t0105 a0002c0002t0116 a0002c0002t0128 a0004c0005t0122	a0001c0001t0007g0044 a0001c0001t0008g0010 a0001c0001t0010g0009 others(40): Show a0001c0001t0007g0044 a0001c0001t0008g0010 a0001c0001t0010g0009 a0001c0001t0011g0034 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0027g0119 a0001c0001t0032g0159 a0001c0001t0040g0150 a0001c0001t0043g0084 a0001c0001t0049g0157 a0001c0001t0069g0092 a0001c0001t0086g0060 a0001c0001t0093g0008 a0001c0001t0095g0019 a0001c0001t0097g0031 a0001c0001t0106g0003 a0001c0001t0108g0064 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0117g0001 a0001c0001t0119g0061 a0001c0001t0120g0024 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0126g0030 a0001c0001t0138g0095 a0001c0001t0141g0002 a0001c0003t0088g0021 a0002c0002t0005g0133 a0002c0002t0035g0143 a0002c0002t0036g0158 a0002c0002t0081g0123 a0002c0002t0098g0045 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0105g0148 a0002c0002t0116g0107 a0002c0002t0128g0054 a0004c0005t0122g0057	43	162	0.2654	32	c.156 others(51): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTGTGTCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTGT others(25): Show ATCTCTGTCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	162	0.0062	32	c.156 others(51): Show c.1569+5647_1569+5648insCTGTCTCTATCTCTATCTGTGTCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121723	A A	ATATCTCT others(25): Show ATATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0095 a0001c0001t0138g0095	1	162	0.0062	32	c.156 others(51): Show c.1569+5691_1569+5692insATCTCTATCTCTATCTCTATCTCTAT CTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121741	A A	ATCTCTAT others(25): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0061 a0001c0001t0119g0061	1	162	0.0062	32	c.156 others(51): Show c.1569+5711_1569+5712insCTATCTGTGTCTCTATCTCTATCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121825	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0115 a0002c0002t0115	a0002c0002t0115g0049 a0002c0002t0115g0049	1	162	0.0062	32	c.156 others(51): Show c.1569+5792_1569+5793insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1121889	A A	ATCTCTAT others(25): Show ATCTCTATATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01952.hp1 others(10): Show HG01243.hp2 HG01496.hp2 HG01952.hp1 HG02129.hp1 HG02280.hp1 HG02735.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp2 NA19030.hp2 NA19090.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 others(9): Show a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0032 a0001c0001t0086 a0001c0001t0110 a0001c0001t0111 a0001c0001t0126 a0002c0002t0084	a0001c0001t0010g0009 a0001c0001t0012g0022 a0001c0001t0013g0005 others(10): Show a0001c0001t0010g0009 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0027g0119 a0001c0001t0032g0159 a0001c0001t0086g0060 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0126g0030 a0002c0002t0084g0025	13	162	0.0803	32	c.156 others(51): Show c.1569+5863_1569+5864insATCTCTATCTCTATCTCTATCTGTGT CTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122007	A A	ATCTGTGT others(25): Show ATCTGTGTCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03225.hp1 HG01175.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0107 a0002c0002t0081 a0001c0001t0107 a0002c0002t0081	a0001c0001t0107g0006 a0002c0002t0081g0123 a0001c0001t0107g0006 a0002c0002t0081g0123	2	162	0.0124	32	c.156 others(51): Show c.1569+5977_1569+5978insGTGTCTCTATCTCTATCTCTATCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122169	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0085 a0001c0001t0056g0085	1	162	0.0062	32	c.156 others(51): Show c.1569+6136_1569+6137insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122171	C C	CTATCTCT others(25): Show CTATCTCTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0085	a0002c0002t0085g0142 a0002c0002t0085g0142	1	162	0.0062	32	c.156 others(51): Show c.1569+6139_1569+6140insATCTCTATCTCTATCTCTATCTCTAT CTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122409	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0059 a0002c0007t0059	a0002c0007t0059g0071 a0002c0007t0059g0071	1	162	0.0062	32	c.156 others(51): Show c.1569+6376_1569+6377insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122439	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	162	0.0062	32	c.156 others(51): Show c.1569+6406_1569+6407insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122480	T T	TGCCTATT others(25): Show TGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	32	c.156 others(51): Show c.1569+6447_1569+6448insGCCTATTGATATATCTGTATATATCT ATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TGCCTATT others(25): Show TGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03927.hp2 HG02818.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0108 a0002c0006t0051 a0001c0001t0108 a0002c0006t0051	a0001c0001t0108g0064 a0002c0006t0051g0081 a0001c0001t0108g0064 a0002c0006t0051g0081	2	162	0.0124	32	c.156 others(51): Show c.1569+6609_1569+6610insGCCTATTGATATATCTGTATATATCT ATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar

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