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	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
EMILIN2_chr18_2842006_2921003	2913222	CGCCCTCC others(8): Show CGCCCTCCAGGAGCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19068.hp2 NA19068.hp2	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0001 a0018c0034t0001	a0018c0034t0001g0347 a0018c0034t0001g0347	1	452	0.0022	-15	c.298 others(24): Show c.2981_2995delGCCCTCCAGGAGCTT	p.Arg others(13): Show p.Arg994_Ala998del	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	8/8	3164/5944	2981/3162	994/1053			chr18	TogoVar
EML1_chr14_99788413_99947060	99806316	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0265 a0001c0005t0005g0265	1	288	0.0035	-15	c.67+ others(32): Show c.67+12783_67+12797delTTTTTTTTTTTTTTT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928143	GTGGTGGT others(8): Show GTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0234 a0002c0001t0019g0234	1	288	0.0035	-15	c.190 others(34): Show c.1909+7281_1909+7295delATGGTGGTGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42289913	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	358	0.0028	-15	c.121 others(34): Show c.1218+1602_1218+1616delAAAAAAAAAAAAAAA		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	11/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88663452	TATATAGT others(8): Show TATATAGTTGAATACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG01257.hp1 others(16): Show HG00741.hp2 HG01256.hp2 HG01257.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp1 HG04115.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0283 others(15): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0283 a0001c0001t0002g0158 a0001c0001t0006g0003 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0019g0212 a0001c0001t0019g0217	19	332	0.0572	-15	c.341 others(32): Show c.3410-348_3410-334delTGTATTCAACTATAT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	23/43						chr14	TogoVar
EML6_chr2_54718662_54977025	54774462	CCAACAGC others(8): Show CCAACAGCACTACCAG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	264	0.0038	-15	c.198 others(34): Show c.198-38764_198-38750delGCACTACCAGCAACA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP1_chr12_13191726_13224941	13203101	CCCTCCCA others(8): Show CCCTCCCAGCTTGCCG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0089 a0001c0001t0016g0089	1	444	0.0023	-15	c.-43 others(32): Show c.-43+6233_-43+6247delCCCAGCTTGCCGCCT		EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
EMP2_chr16_10523422_10585598	10557621	ACTCAGTG others(8): Show ACTCAGTGAGGTGGAT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0364 a0001c0001t0006g0364	1	402	0.0025	-15	c.-60 others(32): Show c.-60-9959_-60-9945delATCCACCTCACTGAG		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
EMP2_chr16_10523422_10585598	10571255	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	402	0.0025	-15	c.-61 others(32): Show c.-61+9279_-61+9293delTTTTTTTTTTTTTTT		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
EMP2_chr16_10523422_10585598	10575237	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp1 HG03041.hp1 others(2): Show HG02257.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0114 a0001c0001t0119 others(2): Show a0001c0001t0001 a0001c0001t0114 a0001c0001t0119 a0001c0001t0127 a0001c0002t0002	a0001c0001t0001g0141 a0001c0001t0114g0005 a0001c0001t0119g0037 others(2): Show a0001c0001t0001g0141 a0001c0001t0114g0005 a0001c0001t0119g0037 a0001c0001t0127g0036 a0001c0002t0002g0006	5	402	0.0124	-15	c.-61 others(32): Show c.-61+5297_-61+5311delAAAAAAAAAAAAAAA		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
EMP3_chr19_48320552_48335553	48334463	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	376	0.0027	-15	c.39 others(26): Show c.3994_*4008delTTCTTTCTTTCTTTC		EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding					3911		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494654	CCTTCCTT others(8): Show CCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01516.hp2 others(9): Show HG00741.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02486.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 NA18522.hp1 NA18906.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0017 others(9): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0251 a0001c0002t0023g0033	12	360	0.0333	-15	c.115 others(34): Show c.1154-1559_1154-1545delTTCCTTCCTTCCTTC		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76507859	CTTTTTCT others(8): Show CTTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0287 a0001c0001t0014g0288	2	360	0.0056	-15	c.140 others(34): Show c.1409-5512_1409-5498delTTTTTTCTTTTTTTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
EN1_chr2_118837171_118852648	118847726	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02040.hp1 NA18971.hp2 HG00438.hp1 HG02040.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	442	0.0068	-15	c.-57 others(24): Show c.-574_-560delAAAAAAAAAAAAAAA		EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding					79		chr2	TogoVar
ENAH_chr1_225481829_225658123	225545910	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	308	0.0033	-15	c.349 others(32): Show c.349+8981_349+8995delAAAAAAAAAAAAAAA		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	3/13						chr1	TogoVar
ENGASE_chr17_79069824_79093599	79088118	GTGGACGG others(8): Show GTGGACGGCAGGTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0050 a0004c0007t0050	a0004c0007t0050g0071 a0004c0007t0050g0071	1	420	0.0024	-15	c.17 others(26): Show c.1770_*1784delTGGACGGCAGGTGAA		ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	14/14				1770		chr17	TogoVar
ENOPH1_chr4_82425590_82466177	82446689	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 NA20300.hp1 HG02809.hp2 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0055 a0001c0001t0001g0014 a0001c0001t0001g0055	3	366	0.0082	-15	c.85- others(30): Show c.85-1217_85-1203delTTTTTTTTTTTTTTT		ENOPH1	ENSG00000145293.17	transcript	ENST00000273920.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
ENOSF1_chr18_665318_717630	667363	GAGATGGT others(8): Show GAGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18977.hp2 NA18998.hp1 HG00408.hp1 NA18977.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0022 a0001c0001t0018g0070 a0001c0001t0018g0165 a0001c0001t0002g0022 a0001c0001t0018g0070 a0001c0001t0018g0165	3	418	0.0072	-15	c.69 others(26): Show c.6927_*6941delTCACCATCACCATCT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2954		chr18	TogoVar
ENOSF1_chr18_665318_717630	667441	GTGATGGT others(8): Show GTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 NA18974.hp1 HG01361.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0030 a0001c0001t0001 a0001c0003t0030	a0001c0001t0001g0252 a0001c0003t0030g0294 a0001c0001t0001g0252 a0001c0003t0030g0294	2	418	0.0048	-15	c.68 others(26): Show c.6849_*6863delTCACCATCACCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2876		chr18	TogoVar
ENOSF1_chr18_665318_717630	667448	TGATGGTG others(8): Show TGATGGTGATGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01257.hp1 HG01358.hp1 others(2): Show HG00738.hp2 HG01257.hp1 HG01358.hp1 NA19088.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0016 a0002c0005t0001 a0001c0001t0001 a0001c0001t0016 a0002c0005t0001	a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0277 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0277 a0001c0001t0016g0150 a0002c0005t0001g0005	5	418	0.0120	-15	c.68 others(26): Show c.6842_*6856delTCCATCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2869		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43228095	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0176 a0001c0002t0006g0176	1	188	0.0053	-15	c.171 others(34): Show c.1715-3972_1715-3958delAAAAAAAAAAAAAAA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	15/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247858	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19085.hp1 NA18984.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0050 a0001c0002t0006g0174 a0001c0001t0002g0050 a0001c0002t0006g0174	2	188	0.0106	-15	c.161 others(36): Show c.1612-11135_1612-11121delTATATATATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247860	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0144 a0001c0001t0007g0144	1	188	0.0053	-15	c.161 others(36): Show c.1612-11137_1612-11123delTATATATATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460816	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01109.hp1 others(45): Show HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03710.hp1 HG03831.hp2 NA18944.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18973.hp2 NA18984.hp1 NA18985.hp2 NA19004.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0026 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0001c0003t0011 a0001c0003t0013 a0001c0008t0002	a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 others(45): Show a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0003g0065 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0005g0149 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0007g0142 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0008g0001 a0001c0001t0008g0084 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0001t0021g0106 a0001c0001t0026g0092 a0001c0002t0001g0016 a0001c0002t0001g0038 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0108 a0001c0002t0006g0174 a0001c0002t0006g0176 a0001c0002t0027g0121 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0008t0002g0077	48	188	0.2553	-15	c.-75 others(34): Show c.-75+23178_-75+23192delATTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43575140	GGCCCTTT others(8): Show GGCCCTTTAATATTTA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0156 a0001c0001t0033g0156	1	188	0.0053	-15	c.-21 others(36): Show c.-218-91003_-218-90989delTAAATATTAAAGGGC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03710.hp1 HG01515.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0099 a0001c0002t0001g0068 a0001c0001t0010g0099 a0001c0002t0001g0068	2	188	0.0106	-15	c.-42 others(26): Show c.-4231_-4217delTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3612		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130682583	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	154	0.0065	-15	c.254 others(32): Show c.254-2850_254-2836delTTTTTTTTTTTTTTT		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	5/14						chrX	TogoVar
ENOX2_chrX_130617325_130908209	130813780	TATACCAC others(8): Show TATACCACCAGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0020 a0001c0001t0012g0038 a0001c0001t0001g0020 a0001c0001t0012g0038	2	154	0.0130	-15	c.-18 others(36): Show c.-182-30105_-182-30091delGGGCCCTGGTGGTAT		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	2/14						chrX	TogoVar
ENPP1_chr6_131803020_131900155	131877857	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG03486.hp2 others(3): Show HG02109.hp1 HG02965.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0019 a0003c0005 a0003c0019	a0003c0005t0009 a0003c0019t0002 a0003c0005t0009 a0003c0019t0002	a0003c0005t0009g0276 a0003c0005t0009g0278 a0003c0005t0009g0279 others(3): Show a0003c0005t0009g0276 a0003c0005t0009g0278 a0003c0005t0009g0279 a0003c0005t0009g0281 a0003c0005t0009g0282 a0003c0019t0002g0221	6	292	0.0206	-15	c.189 others(32): Show c.1894-683_1894-669delAAAAAAAAATATATA		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131717348	GGGGGTGT others(8): Show GGGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18989.hp1 NA19000.hp2 HG04184.hp1 NA18989.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0071 a0001c0002t0001g0087 a0001c0010t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0087 a0001c0010t0001g0068	3	278	0.0108	-15	c.141 others(34): Show c.1413-1322_1413-1308delGGGTGTGTGTGTGTG		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184093640	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03516.hp2 HG02723.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0014 a0004c0006t0014 a0001c0003t0014 a0004c0006t0014	a0001c0003t0014g0167 a0004c0006t0014g0244 a0001c0003t0014g0167 a0004c0006t0014g0244	2	320	0.0063	-15	c.111 others(34): Show c.1118-2273_1118-2259delATTATTATTATTATT		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	7/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131186	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18965.hp2 HG00639.hp1 NA18965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0188 a0002c0001t0001g0012 a0002c0001t0001g0188	2	320	0.0063	-15	c.422 others(32): Show c.422-6929_422-6915delGAAAGAAAGAAAGAA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184218149	ATGACAAA others(8): Show ATGACAAAGTCAACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0212 a0002c0001t0022g0212	1	320	0.0031	-15	c.-34 others(24): Show c.-345_-331delGTGTTGACTTTGTCA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding					277		chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01515.hp2 HG02055.hp1 others(15): Show HG00544.hp1 HG01515.hp2 HG02055.hp1 HG02486.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03704.hp1 NA18747.hp1 NA18944.hp2 NA18969.hp1 NA19084.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0014	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0003c0005 a0004c0011 a0008c0015 a0014c0028	a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0001t0001 a0002c0001t0002 a0003c0005t0001 a0004c0011t0001 a0008c0015t0001 a0014c0028t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0097 others(15): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0097 a0001c0003t0001g0222 a0001c0009t0001g0075 a0002c0001t0001g0004 a0002c0001t0001g0015 a0002c0001t0001g0046 a0002c0001t0001g0054 a0002c0001t0001g0133 a0002c0001t0001g0172 a0002c0001t0002g0042 a0002c0001t0002g0121 a0003c0005t0001g0190 a0004c0011t0001g0031 a0004c0011t0001g0191 a0008c0015t0001g0236 a0014c0028t0001g0086	18	430	0.0419	-15	c.44 others(26): Show c.4419_*4433delAAAAAAAAAAAAAAA		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					3977		chr17	TogoVar
ENSA_chr1_150617125_150634612	150624784	GGCAGTTA others(8): Show GGCAGTTAAGACTTCA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	422	0.0024	-15	c.350 others(30): Show c.350+843_350+857delTGAAGTCTTAACTGC		ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding	3/3						chr1	TogoVar
ENTPD3_chr3_40382184_40433744	40383807	AAAGACTA others(8): Show AAAGACTATCAAAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(112): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0011	a0001c0001 a0002c0002 a0005c0006 others(2): Show a0001c0001 a0002c0002 a0005c0006 a0010c0010 a0011c0013	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0005c0006t0001 a0010c0010t0002 a0011c0013t0002	a0001c0001t0001g0084 a0002c0002t0002g0002 a0002c0002t0002g0009 others(87): Show a0001c0001t0001g0084 a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0042 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0141 a0002c0002t0008g0068 a0002c0002t0008g0092 a0002c0002t0012g0119 a0005c0006t0001g0089 a0005c0006t0001g0114 a0010c0010t0002g0137 a0011c0013t0002g0094	115	374	0.3075	-15	c.-34 others(26): Show c.-3466_-3452delAAGACTATCAAAGGC		ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding					3376		chr3	TogoVar
ENTPD7_chr10_99654509_99716241	99700430	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18970.hp2 NA19066.hp2 others(1): Show NA18953.hp2 NA18970.hp2 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0212 others(1): Show a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0212 a0001c0001t0002g0222	4	408	0.0098	-15	c.133 others(32): Show c.1336-541_1336-527delGTGTGTGTGTGTGTT		ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD8_chr9_137429364_137446357	137440894	CCCCAGAC others(8): Show CCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	392	0.0026	-15	c.-21 others(30): Show c.-21+377_-21+391delCTGTCCTGGTCTGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29254161	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0046 a0003c0006t0046	a0003c0006t0046g0037 a0003c0006t0046g0037	1	125	0.0080	-15	c.277 others(32): Show c.277-1698_277-1684delTTTTTTTTTTTTTTT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01069.hp2 others(13): Show HG00099.hp2 HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01257.hp1 HG01496.hp1 HG01891.hp2 HG02630.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp1 NA18962.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0011 a0002c0003 others(7): Show a0001c0001 a0001c0011 a0002c0003 a0003c0007 a0004c0013 a0005c0016 a0005c0038 a0006c0029 a0006c0033 a0009c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0011t0010 a0002c0003t0013 a0003c0007t0002 a0004c0013t0001 a0005c0016t0006 a0005c0038t0006 a0006c0029t0029 a0006c0033t0049 a0009c0026t0001	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0102 others(13): Show a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0102 a0001c0001t0002g0060 a0001c0001t0004g0026 a0001c0011t0010g0053 a0002c0003t0013g0017 a0002c0003t0013g0019 a0003c0007t0002g0094 a0004c0013t0001g0114 a0004c0013t0001g0118 a0005c0016t0006g0032 a0005c0038t0006g0117 a0006c0029t0029g0093 a0006c0033t0049g0123 a0009c0026t0001g0072	16	125	0.1280	-15	c.277 others(34): Show c.277-54201_277-54187delAAAAAAAAAAAAAAA		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252712	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18951.hp1 NA18612.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	395	0.0051	-15	c.622 others(30): Show c.622-822_622-808delAAAAATATATATATA		ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11						chr1	TogoVar
EOLA1_chrX_149536012_149553331	149540044	AGCCCCGC others(8): Show AGCCCCGCCCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	315	0.0032	-15	c.-15 others(26): Show c.-1528_-1514delGCCCCGCCCCTCCCT		EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding					967		chrX	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01069.hp2 others(32): Show HG00609.hp2 HG00639.hp2 HG01069.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01975.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02698.hp1 HG02738.hp1 HG03239.hp1 HG03540.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18980.hp1 NA18982.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19090.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0021 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0009g0083 a0001c0008t0001g0084 a0002c0002t0001g0016	35	400	0.0875	-15	c.882 others(30): Show c.882-221_882-207delTTTTTTTTTTTTTTT		EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5						chr3	TogoVar
EOMES_chr3_27710953_27727323	27722866	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA19002.hp1 NA18960.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	400	0.0050	-15	c.-58 others(24): Show c.-587_-573delAAAAAAAAAAAAAAA		EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding					544		chr3	TogoVar
EP400_chr12_131944942_132085460	132045024	TTCTGCTG others(8): Show TTCTGCTGTCTGCCTG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02056.hp1 others(3): Show HG01975.hp2 HG01978.hp1 HG02056.hp1 HG02738.hp1 NA18957.hp2 NA19064.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0024	a0001c0002 a0002c0001 a0004c0005 others(1): Show a0001c0002 a0002c0001 a0004c0005 a0024c0033	a0001c0002t0001 a0002c0001t0001 a0004c0005t0001 others(1): Show a0001c0002t0001 a0002c0001t0001 a0004c0005t0001 a0024c0033t0001	a0001c0002t0001g0088 a0001c0002t0001g0140 a0001c0002t0001g0189 others(3): Show a0001c0002t0001g0088 a0001c0002t0001g0140 a0001c0002t0001g0189 a0002c0001t0001g0185 a0004c0005t0001g0137 a0024c0033t0001g0074	6	208	0.0289	-15	c.678 others(31): Show c.6784+94_6784+108delTCTGCCTGTCTGCTG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	37/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46362962	GGTGGTGG others(8): Show GGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	326	0.0031	-15	c.779 others(32): Show c.779+1887_779+1901delAGTGGTGGTGGTGGT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46383004	AAGAGAAA others(8): Show AAGAGAAAGTTCAGAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01928.hp1 HG01978.hp2 others(2): Show HG01071.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0025g0096	5	326	0.0153	-15	c.246 others(32): Show c.2461+412_2461+426delAAGTTCAGAGAGAGA		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36237750	GTATTATT others(8): Show GTATTATTATTATTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01109.hp2 others(9): Show HG00423.hp2 HG00558.hp2 HG01109.hp2 HG02027.hp1 HG02080.hp2 HG02922.hp1 NA18950.hp1 NA18951.hp2 NA18969.hp1 NA19007.hp1 NA19076.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0009 a0001c0002t0022 others(2): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0022 a0001c0002t0023 a0001c0004t0009	a0001c0002t0003g0042 a0001c0002t0003g0060 a0001c0002t0003g0062 others(9): Show a0001c0002t0003g0042 a0001c0002t0003g0060 a0001c0002t0003g0062 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0009g0058 a0001c0002t0022g0063 a0001c0002t0023g0061 a0001c0004t0009g0044 a0001c0004t0009g0045	12	236	0.0509	-15	c.84 others(26): Show c.8411_*8425delTATTATTATTATTAT		EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding					4952		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	131031092	AAAAAAAA others(8): Show AAAAAAAAAAGTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0014 a0001c0001t0005g0015	2	356	0.0056	-15	c.-15 others(34): Show c.-15+32048_-15+32062delATAAACTTTTTTTTT		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19						chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5484086	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	222	0.0045	-15	c.183 others(32): Show c.183+4900_183+4914delTTTTTTTTTTTTTTT		EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22						chr18	TogoVar

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