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
ELP4_chr11_31504767_31795324	31794404	AACACACA others(12): Show AACACACACACACACACCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG00642.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0199 a0001c0001t0001g0138 a0001c0001t0003g0199	2	270	0.0074	-19	c.10 others(32): Show c.10881_*10899delACACACACACACACACCAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4081		chr11	TogoVar
ELP5_chr17_7247215_7264937	7251141	TGTCCCCA others(12): Show TGTCCCCAACACCGCCAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02976.hp1 others(2): Show HG02257.hp2 HG02630.hp2 HG02976.hp1 HG03209.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0054 a0002c0002t0001g0009 a0002c0002t0001g0054	5	412	0.0121	-19	c.-14 others(30): Show c.-1409_-1391delGTCCCCAACACCGCCAGAC	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding		1073		chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48016513	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	388	0.0026	-19	c.355 others(34): Show c.355+478_355+496delTTTCTTTCTTTCTTCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19083.hp1 HG01433.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0111 a0001c0001t0031g0081 a0001c0001t0001g0111 a0001c0001t0031g0081	2	322	0.0062	-19	c.156 others(34): Show c.156-718_156-700delTTTTTTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMCN_chr4_100390341_100523022	100417577	GTGTTTGT others(12): Show GTGTTTGTGGTGAGCTACAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03471.hp1 others(2): Show HG01243.hp2 HG02145.hp2 HG03471.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 others(2): Show a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120	5	262	0.0191	-19	c.665 others(34): Show c.665-455_665-437delTTGTAGCTCACCACAAACA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	8/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100503336	TTTGGCAT others(12): Show TTTGGCATAAGGCAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02615.hp1 others(3): Show HG01884.hp1 HG02055.hp2 HG02615.hp1 HG03139.hp2 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0030 a0001c0001t0005 a0001c0001t0030	a0001c0001t0005g0183 a0001c0001t0005g0191 a0001c0001t0005g0192 others(3): Show a0001c0001t0005g0183 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0030g0190	6	262	0.0229	-19	c.64+ others(36): Show c.64+14496_64+14514delTAATTTTGCCTTATGCCAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	1/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29250285	AATCAAGG others(12): Show AATCAAGGTTCTCACACACT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0020 a0001c0002t0006g0020	1	348	0.0029	-19	c.112 others(38): Show c.1120-3917_1120-3899delATCAAGGTTCTCACACACT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14			chr22	TogoVar
EMILIN3_chr20_41354962_41371818	41359079	CTGTCCTG others(12): Show CTGTCCTGGGGCAATTAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA19004.hp1 NA19004.hp2 NA18972.hp2 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	430	0.0070	-19	c.21 others(30): Show c.2170_*2188delAGCTAATTGCCCCAGGACA	EMILIN3	ENSG00000183798.5	transcript	ENST00000332312.4	protein_coding		882		chr20	TogoVar
EML1_chr14_99788413_99947060	99941647	ATTTGCAG others(12): Show ATTTGCAGATGAGACTGTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG02055.hp2 HG02083.hp2 others(10): Show HG00609.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp1 HG03209.hp2 NA18522.hp1 NA18952.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0003c0002 a0003c0014 a0004c0008	a0001c0003t0004 a0001c0003t0008 a0001c0004t0004 others(6): Show a0001c0003t0004 a0001c0003t0008 a0001c0004t0004 a0001c0005t0004 a0001c0005t0008 a0001c0007t0018 a0003c0002t0008 a0003c0014t0004 a0004c0008t0004	a0001c0003t0004g0027 a0001c0003t0004g0141 a0001c0003t0004g0258 others(10): Show a0001c0003t0004g0027 a0001c0003t0004g0141 a0001c0003t0004g0258 a0001c0003t0008g0271 a0001c0004t0004g0017 a0001c0005t0004g0284 a0001c0005t0004g0285 a0001c0005t0008g0077 a0001c0007t0018g0241 a0003c0002t0008g0238 a0003c0014t0004g0254 a0004c0008t0004g0004 a0004c0008t0004g0268	13	288	0.0451	-19	c.15 others(30): Show c.1565_*1583delAGACTGTAGTTTGCAGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	22/22	1565	INFO_REALIGN_3_PRIME	chr14	TogoVar
EML2_chr19_45604400_45644397	45637648	TTTTTTTT others(12): Show TTTTTTTTCTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04199.hp2 NA18949.hp1 HG00741.hp1 HG04199.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	3	382	0.0079	-19	c.179 others(34): Show c.179+838_179+856delGAAAAGAAAAAGAAAAAAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML6_chr2_54718662_54977025	54744944	ACACACAC others(12): Show ACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	264	0.0038	-19	c.197 others(38): Show c.197+19688_197+19706delACACACACACACACACACC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP3_chr19_48320552_48335553	48323329	ACTAAAAA others(12): Show ACTAAAAATACAAAAATTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00642.hp1 others(51): Show HG00099.hp1 HG00423.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02273.hp2 HG02300.hp1 HG02738.hp2 HG03017.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18971.hp1 NA18982.hp1 NA18988.hp2 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19075.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0014 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039	54	376	0.1436	-19	c.-22 others(30): Show c.-2296_-2278delCTAAAAATACAAAAATTGG	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding		2222		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494654	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00639.hp1 others(13): Show HG00323.hp1 HG00609.hp1 HG00639.hp1 HG01123.hp1 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02055.hp1 HG02165.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG03490.hp1 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0001g0028 others(13): Show a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0010g0034	16	360	0.0444	-19	c.115 others(38): Show c.1154-1559_1154-1541delTTCCTTCCTTCCTTCCTTC	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76494712	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	360	0.0028	-19	c.115 others(38): Show c.1154-1501_1154-1483delCCTTCCTTCCTTCCTTCCT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOG_chr9_128813500_128827676	128819254	GTTCTTCT others(12): Show GTTCTTCTGCAGAACGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	420	0.0024	-19	c.501 others(32): Show c.501+70_501+88delTTCTTCTGCAGAACGGGGC	ENDOG	ENSG00000167136.7	transcript	ENST00000372642.5	protein_coding	1/2			chr9	TogoVar
ENOSF1_chr18_665318_717630	667208	GTGATGGA others(12): Show GTGATGGAGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0214	1	418	0.0024	-19	c.70 others(30): Show c.7078_*7096delACCATCACCATCTCCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3109		chr18	TogoVar
ENOSF1_chr18_665318_717630	704191	TGAGAGGC others(12): Show TGAGAGGCCAAGGTGGGCAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	418	0.0024	-19	c.193 others(36): Show c.193+2260_193+2278delCTGCCCACCTTGGCCTCTC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	2/15			chr18	TogoVar
ENOX1_chr13_43208130_43791972	43460812	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	188	0.0053	-19	c.-75 others(38): Show c.-75+23178_-75+23196delATTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00639.hp2 others(23): Show HG00544.hp1 HG00609.hp1 HG00639.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03486.hp2 HG03516.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18978.hp2 NA18999.hp1 NA18999.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028 a0001c0002t0001 a0001c0002t0012 a0001c0002t0016 a0001c0003t0013 a0002c0006t0001 a0002c0007t0003	a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0036 others(23): Show a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0004g0035 a0001c0001t0004g0116 a0001c0001t0008g0001 a0001c0001t0009g0032 a0001c0001t0009g0039 a0001c0001t0009g0072 a0001c0001t0010g0027 a0001c0001t0010g0037 a0001c0001t0028g0024 a0001c0002t0001g0016 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0109 a0001c0002t0012g0026 a0001c0002t0016g0049 a0001c0003t0013g0093 a0001c0003t0013g0095 a0002c0006t0001g0048 a0002c0007t0003g0015	26	188	0.1383	-19	c.-42 others(30): Show c.-4235_-4217delTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3612		chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790613	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02809.hp2 HG01361.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0035 a0001c0001t0005 a0001c0001t0035	a0001c0001t0005g0166 a0001c0001t0035g0179 a0001c0001t0005g0166 a0001c0001t0035g0179	2	188	0.0106	-19	c.-42 others(30): Show c.-4265_-4247delCTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3642		chr13	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG01255.hp1 others(4): Show HG00323.hp1 HG01175.hp1 HG01255.hp1 HG02055.hp2 NA18995.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(1): Show a0001c0002 a0001c0006 a0001c0007 a0001c0008	a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 others(1): Show a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001	a0001c0002t0002g0009 a0001c0002t0002g0037 a0001c0006t0001g0241 others(3): Show a0001c0002t0002g0009 a0001c0002t0002g0037 a0001c0006t0001g0241 a0001c0007t0001g0228 a0001c0008t0001g0014 a0001c0008t0001g0052	7	430	0.0163	-19	c.44 others(30): Show c.4419_*4437delAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTPD4_chr8_23424162_23462647	23431382	GCACAAAA others(12): Show GCACAAAACAAACTCCACCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0131 a0002c0002t0023g0131	1	412	0.0024	-19	c.15 others(30): Show c.1525_*1543delAGGTGGAGTTTGTTTTGTG	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	13/13	1525		chr8	TogoVar
ENTPD7_chr10_99654509_99716241	99700426	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01993.hp2 HG02135.hp1 others(5): Show HG00738.hp1 HG01993.hp2 HG02135.hp1 HG03017.hp2 NA18953.hp1 NA18961.hp1 NA19007.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0013 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0013 a0002c0002t0028	a0001c0001t0003g0231 a0001c0001t0003g0255 a0001c0001t0003g0297 others(5): Show a0001c0001t0003g0231 a0001c0001t0003g0255 a0001c0001t0003g0297 a0002c0002t0001g0122 a0002c0002t0001g0142 a0002c0002t0001g0154 a0002c0002t0013g0130 a0002c0002t0028g0126	8	408	0.0196	-19	c.133 others(36): Show c.1336-545_1336-527delGTGTGTGTGTGTGTGTGTT	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD8_chr9_137429364_137446357	137440410	CCCCCCCC others(12): Show CCCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0008g0045 a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0008g0045	5	392	0.0128	-19	c.-21 others(34): Show c.-21+857_-21+875delCTGTCCTGGTCTGGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440595	TCCCCCAG others(12): Show TCCCCCAGACCAGGACAGCC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	392	0.0026	-19	c.-21 others(34): Show c.-21+672_-21+690delGGCTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440631	GCCCCCCA others(12): Show GCCCCCCAGACCAGGACAGC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	392	0.0026	-19	c.-21 others(34): Show c.-21+636_-21+654delGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441164	GCCCCCCA others(12): Show GCCCCCCAGACCAGGACAGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0051 a0001c0005t0003g0051	1	392	0.0026	-19	c.-21 others(34): Show c.-21+103_-21+121delGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441219	GCCCCCCA others(12): Show GCCCCCCAGACCAGGACAGC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	392	0.0026	-19	c.-21 others(32): Show c.-21+48_-21+66delGCTGTCCTGGTCTGGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136399955	CGCGCCCA others(12): Show CGCGCCCAGGCTCGGCCGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	412	0.0049	-19	c.28 others(30): Show c.2814_*2832delTCCGGCCGAGCCTGGGCGC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding		1966		chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69349184	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01361.hp1 others(9): Show HG01167.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG02258.hp1 HG02895.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG04199.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0189 a0001c0003t0001g0317 a0001c0003t0001g0318	12	342	0.0351	-19	c.471 others(38): Show c.471+12924_471+12942delAAAAAAAAAAAAAAAAAAA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG02895.hp1 others(1): Show HG00741.hp1 HG01069.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0008 a0002c0004 a0003c0006 others(1): Show a0001c0008 a0002c0004 a0003c0006 a0004c0013	a0001c0008t0007 a0002c0004t0048 a0003c0006t0002 others(1): Show a0001c0008t0007 a0002c0004t0048 a0003c0006t0002 a0004c0013t0024	a0001c0008t0007g0106 a0002c0004t0048g0122 a0003c0006t0002g0107 others(1): Show a0001c0008t0007g0106 a0002c0004t0048g0122 a0003c0006t0002g0107 a0004c0013t0024g0010	4	125	0.0320	-19	c.277 others(38): Show c.277-54205_277-54187delAAAAAAAAAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155258318	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	395	0.0025	-19	c.-34 others(30): Show c.-3460_-3442delAAAAAAAAAAAAAAAAAAA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2836		chr1	TogoVar
EP400_chr12_131944942_132085460	132074147	ACACCTGA others(12): Show ACACCTGACCTCAGGTGATC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG02145.hp2 others(12): Show HG01106.hp1 HG01175.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18522.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0026	a0001c0069 a0003c0004 a0003c0030 others(2): Show a0001c0069 a0003c0004 a0003c0030 a0011c0020 a0026c0071	a0001c0069t0002 a0003c0004t0002 a0003c0030t0002 others(2): Show a0001c0069t0002 a0003c0004t0002 a0003c0030t0002 a0011c0020t0002 a0026c0071t0002	a0001c0069t0002g0061 a0003c0004t0002g0053 a0003c0004t0002g0058 others(12): Show a0001c0069t0002g0061 a0003c0004t0002g0053 a0003c0004t0002g0058 a0003c0004t0002g0059 a0003c0004t0002g0060 a0003c0004t0002g0062 a0003c0004t0002g0063 a0003c0004t0002g0066 a0003c0004t0002g0069 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0030t0002g0064 a0011c0020t0002g0027 a0011c0020t0002g0028 a0026c0071t0002g0065	15	208	0.0721	-19	c.902 others(38): Show c.9022-2362_9022-2344delACCTCAGGTGATCCACCTG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46325052	TGAGCTGA others(12): Show TGAGCTGACCTTTCCAGATG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0270 a0001c0001t0007g0270	1	326	0.0031	-19	c.27- others(36): Show c.27-21816_27-21798delTGACCTTTCCAGATGGAGC	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36237761	ATTATTAT others(12): Show ATTATTATTATTATTATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0209 a0001c0003t0006g0209	1	236	0.0042	-19	c.84 others(30): Show c.8422_*8440delTTATTATTATTATTATTAT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding		4963		chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130955804	GGGGACTT others(12): Show GGGGACTTTTTTTTCAAGGA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	356	0.0028	-19	c.492 others(34): Show c.492+171_492+189delTCCTTGAAAAAAAAGTCCC	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	2/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02809.hp2 HG01884.hp1 HG02451.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0172 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0172	3	222	0.0135	-19	c.34 others(30): Show c.3472_*3490delTTTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5536727	GCTTGAAC others(12): Show GCTTGAACCTGGGAGGCTCA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	222	0.0045	-19	c.-12 others(36): Show c.-12+7167_-12+7185delTGAGCCTCCCAGGTTCAAG	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0098 a0001c0002t0014g0098	1	228	0.0044	-19	c.100 others(36): Show c.100-7034_100-7016delTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112357340	GGTTGGGC others(12): Show GGTTGGGCCTTTACAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02559.hp1 others(3): Show HG01891.hp2 HG02280.hp2 HG02559.hp1 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0002 a0002c0003 a0002c0007 others(2): Show a0001c0002 a0002c0003 a0002c0007 a0002c0018 a0014c0028	a0001c0002t0049 a0002c0003t0002 a0002c0007t0021 others(3): Show a0001c0002t0049 a0002c0003t0002 a0002c0007t0021 a0002c0007t0034 a0002c0018t0035 a0014c0028t0003	a0001c0002t0049g0094 a0002c0003t0002g0006 a0002c0007t0021g0076 others(3): Show a0001c0002t0049g0094 a0002c0003t0002g0006 a0002c0007t0021g0076 a0002c0007t0034g0079 a0002c0018t0035g0077 a0014c0028t0003g0163	6	228	0.0263	-19	c.100 others(38): Show c.100-49869_100-49851delATTTCTGTAAAGGCCCAAC	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408700	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00733.hp1 others(29): Show HG00280.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG01517.hp1 HG01993.hp2 HG02145.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp2 HG03490.hp1 HG03490.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18961.hp1 NA18983.hp2 NA19002.hp2 NA19058.hp1 NA19064.hp2 NA19081.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0002 a0001c0026 others(4): Show a0001c0001 a0001c0002 a0001c0026 a0002c0003 a0003c0004 a0005c0006 a0013c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0036 a0001c0026t0001 a0002c0003t0019 a0003c0004t0004 a0003c0004t0048 a0005c0006t0004 a0013c0020t0047	a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0120 others(29): Show a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0024g0111 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0005g0222 a0001c0002t0014g0124 a0001c0002t0036g0125 a0001c0026t0001g0203 a0002c0003t0019g0073 a0003c0004t0004g0087 a0003c0004t0004g0090 a0003c0004t0048g0085 a0005c0006t0004g0088 a0013c0020t0047g0204	32	228	0.1404	-19	c.99+ others(36): Show c.99+10222_99+10240delCTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	278	0.0036	-19	c.286 others(36): Show c.286-4029_286-4011delAAAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148733479	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19001.hp2 NA19011.hp1 NA18969.hp1 NA19001.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158	3	308	0.0097	-19	c.314 others(38): Show c.314-10125_314-10107delTTTTTTTTTTTTTTTTTTT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(12): Show ATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	450	0.0022	-19	c.-39 others(30): Show c.-3989_-3971delTATATATATATATATATAT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3794		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365518	ATATATAT others(12): Show ATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG03041.hp2 HG01943.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0314 a0001c0001t0001g0010 a0001c0001t0001g0314	2	450	0.0044	-19	c.-39 others(30): Show c.-3987_-3969delTATATATATATATATATTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3792		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365520	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG03471.hp2 HG03486.hp2 HG02523.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0001g0071	3	450	0.0067	-19	c.-39 others(30): Show c.-3985_-3967delTATATATATATATATTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3790		chr2	TogoVar
EPDR1_chr7_37915640_37956936	37949973	GGAAGTTC others(12): Show GGAAGTTCGTGTTTAATGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(64): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG01934.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp1 HG02145.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0022 a0001c0004t0003	a0001c0002t0001g0301 a0001c0002t0003g0001 a0001c0002t0003g0002 others(50): Show a0001c0002t0001g0301 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0006 a0001c0002t0003g0012 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0047 a0001c0002t0003g0055 a0001c0002t0003g0062 a0001c0002t0003g0076 a0001c0002t0003g0105 a0001c0002t0003g0118 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0131 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0153 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0171 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0227 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0306 a0001c0002t0003g0308 a0001c0002t0003g0310 a0001c0002t0003g0319 a0001c0002t0003g0321 a0001c0002t0003g0325 a0001c0002t0003g0327 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0333 a0001c0002t0010g0020 a0001c0002t0010g0124 a0001c0002t0010g0273 a0001c0002t0010g0277 a0001c0002t0010g0289 a0001c0002t0010g0297 a0001c0002t0010g0298 a0001c0002t0022g0075 a0001c0002t0022g0201 a0001c0004t0003g0388 a0001c0004t0003g0393	67	448	0.1496	-19	c.479 others(34): Show c.479-224_479-206delAGTTCGTGTTTAATGGAGA	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPG5_chr18_45842609_45972329	45896631	ACCTCCTG others(12): Show ACCTCCTGCGGTTAAGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	304	0.0033	-19	c.480 others(38): Show c.4809+2754_4809+2772delATCACTTAACCGCAGGAGG	EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	27/43			chr18	TogoVar
EPHA10_chr1_37710976_37770120	37732857	CTTGTTCT others(12): Show CTTGTTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03579.hp1 others(1): Show HG02818.hp2 HG02976.hp1 HG03579.hp1 NA20300.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0009 a0002c0011t0009	a0002c0011t0009g0016 a0002c0011t0009g0017 a0002c0011t0009g0018 others(1): Show a0002c0011t0009g0016 a0002c0011t0009g0017 a0002c0011t0009g0018 a0002c0011t0009g0032	4	382	0.0105	-19	c.149 others(38): Show c.1492-1294_1492-1276delAAAAAAAAAAAAAGAACAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19068.hp2 HG01891.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0015 a0001c0010t0001 a0001c0001t0015 a0001c0010t0001	a0001c0001t0015g0286 a0001c0010t0001g0176 a0001c0001t0015g0286 a0001c0010t0001g0176	2	294	0.0068	-19	c.824 others(38): Show c.824-25699_824-25681delTTTTTTTTTTTTTTTTTTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar

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Search Results (Total: 7091 hits)