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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18960.hp1 HG03453.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0189 a0002c0005t0005g0082 a0001c0001t0001g0189 a0002c0005t0005g0082	2	200	0.0100	36	c.154 others(53): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAGAAAG		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(29): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG01496.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0003 a0001c0001t0020 a0002c0003t0003	a0001c0001t0020g0153 a0002c0003t0003g0031 a0001c0001t0020g0153 a0002c0003t0003g0031	2	200	0.0100	36	c.154 others(53): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAG		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(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03486.hp2 HG03704.hp2 others(1): Show HG02896.hp2 HG03486.hp2 HG03704.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0021 a0002c0003t0003 a0001c0001t0001 a0001c0001t0021 a0002c0003t0003	a0001c0001t0001g0185 a0001c0001t0021g0158 a0002c0003t0003g0015 others(1): Show a0001c0001t0001g0185 a0001c0001t0021g0158 a0002c0003t0003g0015 a0002c0003t0003g0190	4	200	0.0200	36	c.154 others(53): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAG		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(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0147 a0002c0006t0002g0147	1	200	0.0050	36	c.154 others(53): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAGAAAG		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221470610	C C	CCTCTGCT others(29): Show CCTCTGCTTTTCCCTAAAGTATCACTTTAGGGAACCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01884.hp1 others(6): Show HG01071.hp1 HG01167.hp2 HG01884.hp1 HG02895.hp1 HG02896.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 a0001c0001t0039	a0001c0001t0002g0179 a0001c0001t0003g0266 a0001c0001t0003g0267 others(6): Show a0001c0001t0002g0179 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0008g0117 a0001c0001t0008g0132 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0030g0130 a0001c0001t0039g0131	9	294	0.0306	36	c.131 others(57): Show c.1318+11741_1318+11742insAGGTTCCCTAAAGTGATACTTTAG GGAAAAGCAGAG		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	5/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGGAGAAGGGGAAGAGGAAGAGGAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01975.hp1 NA18973.hp2 others(1): Show HG00738.hp2 HG01975.hp1 NA18973.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0047	a0001c0001t0001g0164 a0001c0001t0002g0160 a0001c0002t0001g0163 others(1): Show a0001c0001t0001g0164 a0001c0001t0002g0160 a0001c0002t0001g0163 a0001c0002t0047g0229	4	294	0.0136	36	c.159 others(53): Show c.159+1761_159+1762insTCTTCCTCTTCCTCTTCCCCTTCTCCTT CTCCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGGGGAAGAGGAAGAGGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19065.hp2 HG00642.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0255 a0001c0001t0001g0190 a0001c0001t0001g0255	2	294	0.0068	36	c.159 others(53): Show c.159+1761_159+1762insTCTTCTTCTTCCTCTTCCTCTTCCCCTT CTCCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGGGGAAGGGGAAGAGGAAGAGGAAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18977.hp1 HG03831.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0158 a0001c0002t0001g0159 a0001c0001t0002g0158 a0001c0002t0001g0159	2	294	0.0068	36	c.159 others(53): Show c.159+1761_159+1762insTCTTCCTCTTCCTCTTCCCCTTCCCCTT CTCCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19002.hp1 NA19062.hp1 NA18946.hp2 NA19002.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0049 a0001c0002t0002 a0001c0001t0011 a0001c0001t0049 a0001c0002t0002	a0001c0001t0011g0201 a0001c0001t0049g0174 a0001c0002t0002g0176 a0001c0001t0011g0201 a0001c0001t0049g0174 a0001c0002t0002g0176	3	234	0.0128	36	c.910 others(55): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97001016	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0011 a0001c0003t0011g0011	1	82	0.0122	36	c.111 others(57): Show c.1114+13023_1114+13024insTATATATATATATATATATATATA TATATATATATA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17						chr3	TogoVar
EPHA6_chr3_96809594_97766532	97124469	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0048 a0001c0005t0004g0048	1	82	0.0122	36	c.111 others(59): Show c.1115-101762_1115-101761insAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134974907	A A	ACCTCCCT others(29): Show ACCTCCCTGCCCTTCTTCCTTCTCTGCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp1 HG00673.hp2 others(51): Show HG00323.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp1 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0002t0001 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0003 a0001c0005t0013 a0001c0006t0012 a0001c0006t0026 a0001c0007t0007 a0001c0009t0004 a0001c0010t0008 a0001c0013t0001 a0001c0015t0008 a0002c0014t0002	a0001c0001t0001g0040 a0001c0001t0002g0005 a0001c0001t0002g0038 others(51): Show a0001c0001t0001g0040 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0091 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0006g0047 a0001c0001t0009g0042 a0001c0001t0012g0076 a0001c0001t0014g0029 a0001c0001t0015g0109 a0001c0001t0024g0107 a0001c0002t0001g0036 a0001c0002t0001g0064 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0019g0075 a0001c0003t0001g0016 a0001c0003t0001g0039 a0001c0003t0001g0062 a0001c0003t0001g0089 a0001c0003t0002g0014 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0003g0006 a0001c0003t0003g0054 a0001c0003t0004g0106 a0001c0003t0006g0063 a0001c0003t0020g0124 a0001c0004t0001g0045 a0001c0004t0001g0084 a0001c0004t0001g0128 a0001c0004t0002g0004 a0001c0004t0002g0033 a0001c0004t0002g0127 a0001c0004t0003g0105 a0001c0005t0003g0131 a0001c0005t0013g0129 a0001c0005t0013g0130 a0001c0006t0012g0085 a0001c0006t0026g0117 a0001c0007t0007g0043 a0001c0009t0004g0001 a0001c0010t0008g0104 a0001c0013t0001g0007 a0001c0015t0008g0013 a0002c0014t0002g0031	54	134	0.4030	36	c.805 others(55): Show c.805+22866_805+22901dupCTTCTTCCTTCTCTGCTCTCCTCTCC CCTCCCTGCC		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(29): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0088 a0001c0001t0001g0094	2	282	0.0071	36	c.766 others(53): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(29): Show CCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0072 a0072	a0072c0160 a0072c0160	a0072c0160t0009 a0072c0160t0009	a0072c0160t0009g0036 a0072c0160t0009g0036	1	424	0.0024	36	c.-46 others(48): Show c.-46+7_-46+42dupCGGGTGCGGCGGGTGCGGCGGGTGCGGCGGGTG CGG		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1						chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01167.hp1 others(38): Show HG00597.hp2 HG00673.hp2 HG01167.hp1 HG01346.hp1 HG01515.hp2 HG02056.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02559.hp2 HG02735.hp1 HG02886.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18951.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19090.hp2	a0001 a0010 a0015 a0001 a0010 a0015	a0001c0001 a0001c0025 a0010c0023 others(1): Show a0001c0001 a0001c0025 a0010c0023 a0015c0016	a0001c0001t0002 a0001c0001t0003 a0001c0025t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0025t0002 a0010c0023t0002 a0015c0016t0002	a0001c0001t0002g0040 a0001c0001t0002g0057 a0001c0001t0002g0060 others(38): Show a0001c0001t0002g0040 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0073 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0297 a0001c0001t0002g0307 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0025t0002g0120 a0010c0023t0002g0319 a0015c0016t0002g0235	41	358	0.1145	36	c.432 others(53): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATAT		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31						chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55078736	G G	GGGGGGCT others(29): Show GGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	340	0.0029	36	c.59- others(49): Show c.59-259_59-258insGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L2_chr11_701231_732727	712320	A A	ACGAGCTG others(29): Show ACGAGCTGGGCTCCCGGTTGTGGTCCAAGCCTGGGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0286 a0001c0006t0011g0286	1	406	0.0025	36	c.165 others(53): Show c.165+1891_165+1926dupGGTCCAAGCCTGGGTGCGAGCTGGGCTC CCGGTTGT		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	712377	G G	GGTCCAAG others(29): Show GGTCCAAGCCTGGGTGCGAGCTGGGCTCCCGGTTGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG01243.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0005 a0001c0003t0004 a0001c0004t0005	a0001c0003t0004g0056 a0001c0004t0005g0055 a0001c0003t0004g0056 a0001c0004t0005g0055	2	406	0.0049	36	c.165 others(53): Show c.165+1990_165+2025dupCCCGGTTGTCGTCCAAGCCTGGGTGCGA GCTGGGCT		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01071.hp1 others(55): Show HG00280.hp1 HG00558.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18968.hp1 NA18990.hp2 NA19006.hp1 NA19007.hp2 NA19043.hp1 NA19058.hp1 NA19068.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004 a0007c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0046 a0001c0003t0011 a0001c0003t0038 a0003c0004t0006 a0003c0004t0011 a0007c0010t0006	a0001c0001t0002g0300 a0001c0001t0004g0056 a0001c0001t0004g0079 others(55): Show a0001c0001t0002g0300 a0001c0001t0004g0056 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0107 a0001c0001t0006g0306 a0001c0001t0006g0329 a0001c0001t0008g0080 a0001c0001t0008g0160 a0001c0001t0012g0207 a0001c0001t0013g0025 a0001c0001t0013g0041 a0001c0001t0013g0135 a0001c0001t0016g0215 a0001c0001t0018g0030 a0001c0001t0018g0053 a0001c0001t0019g0346 a0001c0001t0020g0023 a0001c0001t0020g0065 a0001c0001t0020g0077 a0001c0001t0022g0010 a0001c0001t0022g0021 a0001c0001t0032g0014 a0001c0001t0042g0069 a0001c0001t0043g0050 a0001c0001t0044g0066 a0001c0001t0050g0348 a0001c0002t0001g0002 a0001c0002t0001g0044 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0180 a0001c0002t0003g0206 a0001c0002t0003g0212 a0001c0002t0003g0297 a0001c0002t0005g0035 a0001c0002t0005g0064 a0001c0002t0005g0128 a0001c0002t0005g0153 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0006g0307 a0001c0002t0007g0205 a0001c0002t0007g0310 a0001c0002t0009g0075 a0001c0002t0010g0211 a0001c0002t0011g0022 a0001c0002t0011g0071 a0001c0002t0046g0185 a0001c0003t0011g0083 a0001c0003t0038g0172 a0003c0004t0006g0241 a0003c0004t0006g0333 a0003c0004t0006g0335 a0003c0004t0011g0051 a0007c0010t0006g0203	58	352	0.1648	36	c.657 others(51): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(29): Show GTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18612.hp1 NA18986.hp2 HG06807.hp2 NA18612.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0006 a0001c0002t0048 a0001c0001t0012 a0001c0002t0006 a0001c0002t0048	a0001c0001t0012g0220 a0001c0002t0006g0247 a0001c0002t0048g0233 a0001c0001t0012g0220 a0001c0002t0006g0247 a0001c0002t0048g0233	3	352	0.0085	36	c.332 others(53): Show c.332-1576_332-1541dupGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERBB4_chr2_211370717_212543802	211709254	C C	CATATATA others(29): Show CATATATATATATATGTATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp2 NA19030.hp2 HG02145.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0002t0001 a0001c0001t0003 a0001c0001t0024 a0001c0002t0001	a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0002t0001g0020 a0001c0001t0003g0049 a0001c0001t0024g0038 a0001c0002t0001g0020	3	56	0.0536	36	c.112 others(55): Show c.1124+2795_1124+2796insATGTGTATATATATATATATACATAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003099	C C	CAGAAAGA others(29): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	56	0.0179	36	c.235 others(55): Show c.235-55484_235-55483insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	56	0.0179	36	c.83- others(53): Show c.83-63331_83-63330insGGGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	36	c.83- others(55): Show c.83-206169_83-206168insGTGTATATATATATATATATATATAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0052 a0001c0001t0026g0052	1	56	0.0179	36	c.83- others(55): Show c.83-206169_83-206168insGTATATATATATATATATATATATAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	65977312	C C	CAGACGGG others(29): Show CAGACGGGGTGGCTGCTGGGCGGAGGGGCTCCTCACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02896.hp1 others(1): Show HG02257.hp1 HG02647.hp1 HG02896.hp1 HG02976.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0007 a0005c0006t0002 a0005c0006t0007	a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 others(1): Show a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0227	4	306	0.0131	36	c.-57 others(55): Show c.-57-11323_-57-11322insAGACGGGGTGGCTGCTGGGCGGAGGG GCTCCTCACT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25						chr5	TogoVar
ERC1_chr12_986223_1500931	991247	C C	CGGCGGCG others(29): Show CGGCGGCGGCGGCGGTAGTGGCGGCGGCGGCGGTAGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02922.hp2 HG02809.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0037 a0002c0002t0036 a0002c0002t0037	a0002c0002t0036g0158 a0002c0002t0037g0042 a0002c0002t0036g0158 a0002c0002t0037g0042	2	162	0.0124	36	c.-19 others(45): Show c.-199_-198insAGTGGCGGCGGCGGCGGTAGTGGCGGCGGCGGCGGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/19				36623	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121757	A A	ATCTGTGT others(29): Show ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(4): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00741.hp2 HG02602.hp2 NA18949.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0015 a0001c0001t0043 a0001c0001t0109 others(4): Show a0001c0001t0015 a0001c0001t0043 a0001c0001t0109 a0001c0001t0118 a0001c0001t0123 a0001c0001t0141 a0004c0005t0122	a0001c0001t0015g0038 a0001c0001t0043g0084 a0001c0001t0109g0014 others(4): Show a0001c0001t0015g0038 a0001c0001t0043g0084 a0001c0001t0109g0014 a0001c0001t0118g0026 a0001c0001t0123g0047 a0001c0001t0141g0002 a0004c0005t0122g0057	7	162	0.0432	36	c.156 others(55): Show c.1569+5727_1569+5728insGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	G G	GTATGTAT others(29): Show GTATGTATATGTATATGTATATGTATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0145 a0002c0002t0072g0145	1	162	0.0062	36	c.173 others(57): Show c.1737+12438_1737+12473dupATATGTATATGTATATGTATATGT ATATGTATATGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55714661	G G	GTATATAT others(29): Show GTATATATATATATATGTATATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	74	0.0135	36	c.271 others(57): Show c.2713-15150_2713-15149insTATACACACATATATATATACATA TATATATATATA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55828458	G G	GGCAGCAG others(29): Show GGCAGCAGGGGCAGCAGGCGCAGCAGGGGCAGCAGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	74	0.0135	36	c.256 others(57): Show c.2564+59930_2564+59931insGCCTGCTGCCCCTGCTGCGCCTGC TGCCCCTGCTGC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55864144	T T	TATATATA others(29): Show TATATATACACATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	1	74	0.0135	36	c.256 others(57): Show c.2564+24244_2564+24245insGTGTATATATATATGTGTATATAT ATGTGTATATAT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0284 a0003c0003t0012g0284	1	392	0.0026	36	c.788 others(51): Show c.788+585_788+586insACACACACACACAAACACACACACACACAC ACACAC		ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(29): Show ATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	334	0.0030	36	c.83- others(51): Show c.83-3096_83-3095insATATATATATATATATGTGTGTGTGTGTGT GTGTGT		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(29): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	334	0.0030	36	c.83- others(51): Show c.83-3096_83-3095insATATATATATATGTGTGTGTGTGTGTGTGT GTGTGT		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(29): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0010 a0001c0001t0002g0011	2	334	0.0060	36	c.83- others(51): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908308	G G	GGGGGGGG others(29): Show GGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	334	0.0030	36	c.156 others(53): Show c.156-1350_156-1349insAGAGAGGGGAGGGGGGGGAGGGGGGGAG GGGGGGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	699928	G G	GGCGCACA others(29): Show GGCGCACAGACCCACACACGCGCACAGGCCCGCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(30): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp2 HG03453.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006 a0012c0017	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0004t0002 a0004c0006t0002 a0012c0017t0002	a0001c0001t0002g0274 a0001c0002t0001g0023 a0001c0002t0001g0027 others(30): Show a0001c0001t0002g0274 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0144 a0001c0002t0002g0298 a0001c0002t0002g0324 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0005g0243 a0003c0004t0002g0322 a0003c0004t0002g0323 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0012c0017t0002g0366	33	378	0.0873	36	c.170 others(53): Show c.170-7317_170-7316insGTGTGCGGGCCTGTGCGCGTGTGTGGGT CTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	699938	C C	CCCACACA others(29): Show CCCACACACGCGCACAGGCCCGCACACGCGCACAGAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03195.hp2 HG03471.hp2 HG02897.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317	3	378	0.0079	36	c.170 others(53): Show c.170-7327_170-7326insATCTGTGCGCGTGTGCGGGCCTGTGCGC GTGTGTGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00621.hp2 others(49): Show HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp2 HG01993.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp1 NA18983.hp2 NA19004.hp2 NA19012.hp2 NA19054.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0009 a0005c0004 others(1): Show a0001c0001 a0001c0009 a0005c0004 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0005c0004t0001 a0008c0008t0002	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0053 others(48): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0357 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0289 a0001c0001t0002g0328 a0001c0001t0002g0355 a0001c0001t0002g0358 a0001c0001t0002g0368 a0001c0001t0002g0381 a0001c0001t0002g0384 a0001c0001t0002g0392 a0001c0001t0002g0427 a0001c0001t0002g0433 a0001c0009t0001g0218 a0005c0004t0001g0051 a0005c0004t0001g0052 a0005c0004t0001g0072 a0005c0004t0001g0428 a0008c0008t0002g0102	52	442	0.1177	36	c.101 others(55): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19078.hp2 HG01981.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0029 a0001c0003 a0002c0029	a0001c0003t0001 a0002c0029t0001 a0001c0003t0001 a0002c0029t0001	a0001c0003t0001g0193 a0002c0029t0001g0137 a0001c0003t0001g0193 a0002c0029t0001g0137	2	348	0.0058	36	c.134 others(55): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATATATATAT		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13						chr3	TogoVar
ERICH6_chr3_150654885_150708920	150700251	T T	TTATTTTA others(29): Show TTATTTTATATATATTTTTATAATATTTAATTTATTA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	348	0.0029	36	c.462 others(53): Show c.462-1370_462-1369insTAATAAATTAAATATTATAAAAATATAT ATAAAATA		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	2/13						chr3	TogoVar
ERICH6_chr3_150654885_150708920	150703783	T T	TCCTCCTC others(29): Show TCCTCCTCCTCCTCCACCTCTTCCTCCTCCTCCTCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18970.hp1 NA18970.hp1	a0031 a0031	a0031c0037 a0031c0037	a0031c0037t0001 a0031c0037t0001	a0031c0037t0001g0308 a0031c0037t0001g0308	1	348	0.0029	36	c.115 others(43): Show c.115_116insTGGAGGAGGAGGAGGAAGAGGTGGAGGAGGAGGAGG	p.Glu others(47): Show p.Glu38_Glu39insValGluGluGluGluGluGluValGluGluGluG lu	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	137/2021	115/1992	39/663			chr3	TogoVar
ERMARD_chr6_169746622_169786600	169765889	G G	GGCTGTCT others(29): Show GGCTGTCTGTCAAATCTCACTGAAGTGATTTCGTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(82): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0002g0104 a0001c0005t0001g0097	85	379	0.2243	36	c.961 others(51): Show c.961-677_961-642dupCGCTGTCTGTCAAATCTCACTGAAGTGATT TCGTCA		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
ERP44_chr9_99974185_100104000	100082311	G G	GGCACATG others(29): Show GGCACATGTATACCTATGTAACAAACCTGCACATTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02559.hp2 others(5): Show HG01109.hp1 HG02055.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG03130.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 others(5): Show a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0010g0088 a0001c0001t0010g0099	8	220	0.0364	36	c.57+ others(53): Show c.57+16437_57+16472dupTGAATGTGCAGGTTTGTTACATAGGTAT ACATGTGC		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11						chr9	TogoVar
ERP44_chr9_99974185_100104000	100100707	A A	ATATATGT others(29): Show ATATATGTATATATAATATATGTATATATAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	220	0.0046	36	c.-18 others(47): Show c.-1868_-1867insCATATATTATATATACATATATTATATATACATA TA		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding					1708		chr9	TogoVar
ERP44_chr9_99974185_100104000	100100889	T T	TATAATAT others(29): Show TATAATATATATAATATATATAATATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	220	0.0046	36	c.-20 others(47): Show c.-2050_-2049insTATATATACATATATTATATATATTATATATATT AT		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding					1890		chr9	TogoVar
ESCO1_chr18_21524284_21605704	21593597	T T	TAGGGAGA others(29): Show TAGGGAGAGGGAGAGGGAGAGGGAGACGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0195 a0002c0002t0012g0195	1	310	0.0032	36	c.-82 others(55): Show c.-825+7025_-825+7026insCTCCCTCTCCGTCTCCCTCTCCCTCT CCCTCTCCCT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11						chr18	TogoVar
ESCO1_chr18_21524284_21605704	21593597	T T	TAGGGAGA others(29): Show TAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp2 HG01891.hp1 others(3): Show HG00280.hp2 HG01168.hp2 HG01891.hp1 HG02897.hp1 NA18957.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0003t0002g0181 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184	6	310	0.0194	36	c.-82 others(55): Show c.-825+7025_-825+7026insCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11						chr18	TogoVar
ESCO1_chr18_21524284_21605704	21593599	G G	GGGAGAGG others(29): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02602.hp1 HG04204.hp2 HG01934.hp2 HG02602.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265	3	310	0.0097	36	c.-82 others(55): Show c.-825+7023_-825+7024insGTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCC		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11						chr18	TogoVar

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