Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp2 HG01358.hp1 others(2): Show HG01106.hp2 HG01257.hp2 HG01358.hp1 HG02451.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0079 a0001c0001t0001g0090 a0002c0002t0001g0063 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0090 a0002c0002t0001g0063 a0002c0002t0002g0155 a0002c0002t0002g0209	5	388	0.0129	27	c.35 others(38): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC2_chr8_108438624_108494196	108456332	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	364	0.0028	27	c.363 others(42): Show c.363+417_363+418insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0238 a0001c0001t0050g0238	1	322	0.0031	27	c.59 others(36): Show c.591_*592insAAAAATATATCTATCTATCTATCTATC	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EML1_chr14_99788413_99947060	99928027	T T	TGATGGTG others(20): Show TGATGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0047 a0001c0004t0002g0047	1	288	0.0035	27	c.190 others(46): Show c.1909+7151_1909+7152insATGGTGGTGATGGTGGTGGTGGTGGA G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGATGGT others(20): Show GTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0049 a0001c0004t0003g0049	1	288	0.0035	27	c.190 others(46): Show c.1909+7343_1909+7344insATGGTGGTGGTGGTGGTGGTGGTGAT G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(20): Show GTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0155 a0003c0002t0003g0155	1	288	0.0035	27	c.190 others(46): Show c.1909+7355_1909+7356insATGGTGGTGGTGATGGTGGTGGTGGT G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18994.hp2 NA19030.hp2 others(1): Show NA18612.hp1 NA18994.hp2 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0020 a0003c0003t0002 others(1): Show a0001c0001t0005 a0001c0001t0020 a0003c0003t0002 a0003c0003t0004	a0001c0001t0005g0316 a0001c0001t0020g0136 a0003c0003t0002g0253 others(1): Show a0001c0001t0005g0316 a0001c0001t0020g0136 a0003c0003t0002g0253 a0003c0003t0004g0248	4	358	0.0112	27	c.26- others(40): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0071 a0002c0002t0009g0071	1	358	0.0028	27	c.196 others(46): Show c.1967+1959_1967+1960insTTTTTTTTTTTTTTTTTTTTTTTTTT T	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0264 a0001c0002t0011g0264	1	264	0.0038	27	c.198 others(46): Show c.198-16043_198-16042insAAAAAAAAAAAAAAAAAAAAAAAAAA A	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CCAAAAAA others(20): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0141 a0001c0002t0032g0141	1	264	0.0038	27	c.198 others(44): Show c.198-6620_198-6619insCAAAAAAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02970.hp2 HG01069.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0081 a0001c0005t0003g0118 a0001c0005t0001g0081 a0001c0005t0003g0118	2	264	0.0076	27	c.243 others(46): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA A	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	264	0.0038	27	c.243 others(46): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAG A	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(20): Show GTTGTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0001 a0008c0033t0001	a0008c0033t0001g0208 a0008c0033t0001g0208	1	264	0.0038	27	c.496 others(44): Show c.4968+852_4968+853insGTTTTTTTTTTGTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(20): Show GTTGTTTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03209.hp2 HG03516.hp2 others(1): Show HG02135.hp2 HG03209.hp2 HG03516.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0034 a0001c0001t0007g0026 a0001c0001t0014g0008 others(1): Show a0001c0001t0001g0034 a0001c0001t0007g0026 a0001c0001t0014g0008 a0001c0001t0014g0059	4	264	0.0152	27	c.496 others(44): Show c.4968+852_4968+853insGTTTTTTTTTTTTTGTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(20): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01081.hp2 others(33): Show HG00558.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01361.hp2 HG01952.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18955.hp1 NA18971.hp2 NA18999.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19081.hp1 NA19087.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0023 a0001c0026 a0002c0008 a0002c0028 a0004c0035 a0009c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0036 a0001c0001t0048 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0046 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0006t0018 a0001c0009t0005 a0001c0009t0008 a0001c0023t0026 a0001c0026t0039 a0002c0008t0012 a0002c0008t0022 a0002c0028t0012 a0004c0035t0012 a0009c0024t0003	a0001c0001t0001g0048 a0001c0001t0001g0177 a0001c0001t0001g0183 others(33): Show a0001c0001t0001g0048 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0003g0137 a0001c0001t0005g0042 a0001c0001t0016g0031 a0001c0001t0036g0174 a0001c0001t0048g0069 a0001c0002t0001g0021 a0001c0002t0001g0234 a0001c0002t0005g0230 a0001c0002t0010g0071 a0001c0002t0013g0023 a0001c0002t0046g0051 a0001c0003t0001g0252 a0001c0004t0001g0228 a0001c0004t0005g0222 a0001c0004t0016g0082 a0001c0005t0001g0015 a0001c0005t0001g0088 a0001c0005t0001g0092 a0001c0006t0018g0039 a0001c0009t0005g0205 a0001c0009t0008g0106 a0001c0023t0026g0171 a0001c0026t0039g0216 a0002c0008t0012g0058 a0002c0008t0022g0101 a0002c0028t0012g0232 a0004c0035t0012g0013 a0009c0024t0003g0110	36	264	0.1364	27	c.496 others(44): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03669.hp2 HG02135.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0105 a0001c0001t0004g0259 a0001c0001t0003g0105 a0001c0001t0004g0259	2	264	0.0076	27	c.496 others(44): Show c.4968+869_4968+870insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	402	0.0025	27	c.-61 others(44): Show c.-61+5285_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENDOG_chr9_128813500_128827676	128820565	T T	TCTATCAG others(20): Show TCTATCAGCCCTGGGTTTCAGGGAGTGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	420	0.0024	27	c.502 others(42): Show c.502-171_502-145dupATCAGCCCTGGGTTTCAGGGAGTGACT	ENDOG	ENSG00000167136.7	transcript	ENST00000372642.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENOSF1_chr18_665318_717630	667456	A A	ATGGAGAT others(20): Show ATGGAGATGGTGATGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	418	0.0024	27	c.68 others(38): Show c.6848_*6849insCCATCACCATCACCATCACCATCTCCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2861		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	188	0.0053	27	c.161 others(48): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAAAAAATATAT ATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43718676	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0163 a0001c0003t0011g0163	1	188	0.0053	27	c.-28 others(48): Show c.-284-51159_-284-51133dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43753961	A A	ACTGATGT others(20): Show ACTGATGTATTTCTTCTGTGTATATAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp1 others(152): Show HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0004 a0002c0006 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0027 a0001c0002t0029 a0001c0003t0011 a0001c0003t0013 a0001c0005t0003 a0001c0008t0002 a0001c0009t0001 a0001c0010t0006 a0002c0004t0001 a0002c0004t0015 a0002c0004t0024 a0002c0004t0039 a0002c0006t0001 a0002c0007t0003 a0003c0011t0004	a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 others(152): Show a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0004g0003 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0071 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0102 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0005g0135 a0001c0001t0005g0149 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0178 a0001c0001t0005g0184 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0008g0001 a0001c0001t0008g0017 a0001c0001t0008g0025 a0001c0001t0008g0047 a0001c0001t0008g0084 a0001c0001t0008g0091 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0032 a0001c0001t0009g0039 a0001c0001t0009g0072 a0001c0001t0009g0101 a0001c0001t0010g0027 a0001c0001t0010g0037 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0010g0099 a0001c0001t0010g0129 a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0001t0015g0004 a0001c0001t0017g0054 a0001c0001t0017g0075 a0001c0001t0018g0103 a0001c0001t0020g0007 a0001c0001t0021g0106 a0001c0001t0022g0005 a0001c0001t0023g0132 a0001c0001t0025g0125 a0001c0001t0026g0092 a0001c0001t0028g0024 a0001c0001t0030g0150 a0001c0001t0035g0179 a0001c0001t0038g0177 a0001c0001t0041g0187 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0128 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0176 a0001c0002t0006g0181 a0001c0002t0012g0026 a0001c0002t0012g0034 a0001c0002t0016g0018 a0001c0002t0016g0049 a0001c0002t0027g0121 a0001c0002t0029g0002 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0005t0003g0052 a0001c0005t0003g0120 a0001c0008t0002g0077 a0001c0009t0001g0133 a0001c0010t0006g0161 a0002c0004t0001g0069 a0002c0004t0015g0070 a0002c0004t0024g0051 a0002c0004t0039g0186 a0002c0006t0001g0048 a0002c0006t0001g0100 a0002c0007t0003g0015 a0003c0011t0004g0119	155	188	0.8245	27	c.-28 others(48): Show c.-285+32690_-285+32691insCTTATATACACAGAAGAAATACAT CAG	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG04184.hp2 HG01952.hp2 HG02055.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0145 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0001t0001g0145 a0001c0002t0001g0174 a0001c0002t0001g0175	3	278	0.0108	27	c.154 others(42): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTPD2_chr9_137043107_137059061	137045586	A A	AGGCCTGA others(20): Show AGGCCTGAGCCAGACGCGCTCCCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	400	0.0025	27	c.30 others(38): Show c.3044_*3070dupCCGCCGGGAGCGCGTCTGGCTCAGGCC	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding		2520		chr9	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG04204.hp2 NA20905.hp1 others(1): Show HG02647.hp2 HG04204.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0001 a0004c0007t0047 a0001c0003t0001 a0004c0007t0047	a0001c0003t0001g0004 a0004c0007t0047g0147 a0001c0003t0001g0004 a0004c0007t0047g0147	4	412	0.0097	27	c.58 others(38): Show c.5801_*5802insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	395	0.0025	27	c.622 others(42): Show c.622-819_622-818insTATATATATATATATATATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOLA1_chrX_149536012_149553331	149539556	G G	GCAGCTCC others(20): Show GCAGCTCCACCCCCAGCTTCGTTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0003c0006 a0004c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0002c0002t0005 a0002c0003t0005 a0002c0003t0028 a0002c0004t0013 a0003c0006t0003 a0004c0007t0025 a0005c0005t0016	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0053 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0006g0010 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0007g0005 a0001c0001t0007g0012 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0119 a0001c0001t0008g0001 a0001c0001t0008g0008 a0001c0001t0008g0024 a0001c0001t0008g0037 a0001c0001t0009g0027 a0001c0001t0009g0113 a0001c0001t0009g0114 a0001c0001t0010g0001 a0001c0001t0010g0003 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0060 a0001c0001t0012g0002 a0001c0001t0014g0089 a0001c0001t0015g0003 a0001c0001t0017g0001 a0001c0001t0018g0004 a0001c0001t0019g0061 a0001c0001t0020g0011 a0001c0001t0021g0002 a0001c0001t0022g0050 a0001c0001t0023g0002 a0001c0001t0024g0081 a0001c0001t0026g0094 a0001c0001t0027g0012 a0001c0001t0029g0001 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0101 a0002c0002t0005g0102 a0002c0002t0005g0103 a0002c0002t0005g0105 a0002c0002t0005g0106 a0002c0002t0005g0116 a0002c0003t0005g0026 a0002c0003t0005g0100 a0002c0003t0028g0026 a0002c0004t0013g0021 a0003c0006t0003g0047 a0004c0007t0025g0062 a0005c0005t0016g0051	313	315	0.9937	27	c.-20 others(38): Show c.-2017_-2016insCAGCTCCACCCCCAGCTTCGTTTCCCA	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		1455		chrX	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19063.hp2 NA18975.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0052 a0002c0002t0002g0010 a0002c0002t0002g0052	2	400	0.0050	27	c.57 others(38): Show c.5753_*5754insAAAAAAAAATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	400	0.0025	27	c.57 others(38): Show c.5753_*5754insAAAAAAAAAAATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01993.hp1 HG02148.hp1 others(1): Show HG01106.hp2 HG01993.hp1 HG02148.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0131 a0002c0003t0001g0148 a0002c0003t0001g0152 others(1): Show a0002c0003t0001g0131 a0002c0003t0001g0148 a0002c0003t0001g0152 a0002c0003t0001g0169	4	300	0.0133	27	c.314 others(44): Show c.3143-596_3143-595insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0030 a0001c0016t0005g0030	1	326	0.0031	27	c.455 others(44): Show c.455-1357_455-1356insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	356	0.0028	27	c.-14 others(46): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT T	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5488579	G G	GATAATAA others(20): Show GATAATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	222	0.0045	27	c.183 others(42): Show c.183+421_183+422insTATTATTATTATTATTATTATTATTAT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5505739	C C	CCTTCACC others(20): Show CCTTCACCTCCACCCCTTCCCTCCACAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	222	0.0045	27	c.-11 others(46): Show c.-11-16546_-11-16545insATGTGGAGGGAAGGGGTGGAGGTGAA G	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112339542	A A	ATATATCT others(20): Show ATATATCTATATATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0002 a0006c0023t0002	a0006c0023t0002g0015 a0006c0023t0002g0015	1	228	0.0044	27	c.100 others(46): Show c.100-32053_100-32052insATATATATATATCTATATATAGATAT A	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109226670	T T	TATATATA others(20): Show TATATATATATGAAGAATATATATATGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0137 a0002c0003t0006g0137	1	318	0.0031	27	c.141 others(46): Show c.1410-9552_1410-9526dupTCATATATATATTCTTCATATATATA T	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0116 a0001c0004t0011g0116	1	318	0.0031	27	c.307 others(44): Show c.307-8828_307-8802dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	278	0.0036	27	c.286 others(44): Show c.286-4037_286-4011dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	312	0.0032	27	c.-8+ others(42): Show c.-8+7170_-8+7171insATATATATATATATATATATATATATA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	312	0.0032	27	c.-8+ others(44): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	312	0.0032	27	c.-8+ others(44): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(20): Show TTATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01346.hp1 others(6): Show HG00558.hp2 HG00673.hp1 HG01346.hp1 HG02080.hp2 HG03669.hp2 NA18956.hp2 NA18968.hp1 NA18999.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0062 others(6): Show a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0097 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0003g0061 a0001c0001t0003g0086	9	308	0.0292	27	c.172 others(46): Show c.1720+3236_1720+3237insATATTATATATATATATATATATATA T	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01123.hp1 others(8): Show HG00408.hp1 HG00597.hp2 HG01123.hp1 HG02074.hp1 HG02602.hp2 HG03017.hp1 HG03942.hp2 NA18982.hp2 NA18992.hp1 NA19068.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0080 a0001c0001t0001g0180 a0001c0001t0002g0152 others(8): Show a0001c0001t0001g0080 a0001c0001t0001g0180 a0001c0001t0002g0152 a0001c0001t0003g0172 a0001c0001t0004g0051 a0001c0001t0004g0066 a0001c0001t0004g0132 a0001c0001t0006g0063 a0001c0001t0006g0081 a0001c0002t0003g0062 a0001c0002t0003g0227	11	448	0.0246	27	c.270 others(46): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT T	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(20): Show GAAGGAAGGAAGGAAGGAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	200	0.0050	27	c.154 others(44): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566927	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0003t0003 a0001c0001t0036 a0001c0003t0003	a0001c0001t0036g0115 a0001c0003t0003g0114 a0001c0001t0036g0115 a0001c0003t0003g0114	2	294	0.0068	27	c.159 others(44): Show c.159+1790_159+1791insCTCTTCCTCTTCCTCTTCCTCTTCCTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(20): Show GAGAAGGAGAAGGGGAAGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG03471.hp1 HG01884.hp1 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0030 a0001c0001t0039 a0001c0001t0008 a0001c0001t0030 a0001c0001t0039	a0001c0001t0008g0132 a0001c0001t0030g0130 a0001c0001t0039g0131 a0001c0001t0008g0132 a0001c0001t0030g0130 a0001c0001t0039g0131	3	294	0.0102	27	c.159 others(44): Show c.159+1761_159+1762insTCCTCTTCCTCTTCCCCTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp1 HG01167.hp2 others(5): Show HG00673.hp1 HG01071.hp1 HG01167.hp2 HG01361.hp2 HG03654.hp2 HG03834.hp1 NA18939.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0023 a0001c0003t0003	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(5): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0206 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0002t0023g0219 a0001c0003t0003g0265	8	294	0.0272	27	c.159 others(44): Show c.159+1722_159+1748dupTTCTTCTTCTTCTTCTTCTTCTTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19068.hp2 HG01978.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0177 a0001c0010t0001g0176 a0001c0001t0001g0177 a0001c0010t0001g0176	2	294	0.0068	27	c.159 others(44): Show c.159+1748_159+1749insTTCTTCTTCTTCTTCTTCTTCCTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	294	0.0034	27	c.159 others(44): Show c.159+1748_159+1749insTTCTTCTTCCTCTTCCTCTTCCTCTTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18989.hp1 HG01074.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0164 a0001c0002t0002g0168	2	234	0.0086	27	c.910 others(46): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTCTTTCTTTCTT T	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar

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