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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ENOX1_chr13_43208130_43791972	43616170	C C	CTAGATAG others(19): Show CTAGATAGATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0148 a0001c0001t0034g0148	1	188	0.0053	26	c.-21 others(47): Show c.-219+51308_-219+51309insTATATATATATATATATATCTATC TA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43718676	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	188	0.0053	26	c.-28 others(47): Show c.-284-51158_-284-51133dupTTTTTTTTTTTTTTTTTTTTTTTT TT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENPP1_chr6_131803020_131900155	131877866	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0104 a0002c0002t0005g0104	1	292	0.0034	26	c.189 others(43): Show c.1894-675_1894-674insAAAAAAAATATATATATATATATATA	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP2_chr8_119552086_119643839	119573407	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0318 a0002c0007t0001g0322 a0002c0007t0001g0318 a0002c0007t0001g0322	2	340	0.0059	26	c.178 others(45): Show c.1781-2567_1781-2566insTTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	19/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18970.hp2 NA18987.hp1 others(7): Show HG02273.hp2 NA18970.hp2 NA18987.hp1 NA18999.hp2 NA19003.hp1 NA19054.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 others(7): Show a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141	10	278	0.0360	26	c.154 others(41): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732123	T T	TATATATA others(19): Show TATATATATATATACATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0127 a0002c0001t0001g0127	1	430	0.0023	26	c.253 others(41): Show c.253+739_253+740insATATACATATATACACACATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39752114	G G	GATATACT others(19): Show GATATACTTTTTGGTATACTATATACT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	218	0.0046	26	c.122 others(45): Show c.1220-7857_1220-7832dupAGTATATAGTATACCAAAAAGTATAT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39756316	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0019 a0006c0005t0001g0019	1	218	0.0046	26	c.121 others(45): Show c.1219+8906_1219+8907insTGTGTGAGAGAGAGAGAGAGAGAGAG	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6			chr22	TogoVar
ENTREP1_chr9_69320215_69397456	69367672	C C	CATATATA others(19): Show CATATATATAAATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02723.hp1 HG01243.hp2 HG01891.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0049 a0001c0003t0001g0317 a0001c0003t0001g0318	3	342	0.0088	26	c.472 others(43): Show c.472-3820_472-3819insTAAATATATATATACACATATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG01167.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0019t0001 a0001c0001t0002 a0001c0019t0001	a0001c0001t0002g0099 a0001c0019t0001g0033 a0001c0001t0002g0099 a0001c0019t0001g0033	2	125	0.0160	26	c.220 others(45): Show c.220-20435_220-20434insGTATATATATATATATATATATATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29566846	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0022 a0003c0023t0022	a0003c0023t0022g0030 a0003c0023t0022g0030	1	125	0.0080	26	c.219 others(43): Show c.219+3633_219+3658dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252690	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19085.hp2 HG00642.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0186 a0001c0001t0009g0185 a0001c0001t0001g0186 a0001c0001t0009g0185	2	395	0.0051	26	c.622 others(41): Show c.622-786_622-785insTATATATATATATATATATATATACA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	395	0.0025	26	c.622 others(41): Show c.622-818_622-817insAAAAAATATATATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01517.hp2 others(1): Show HG01515.hp2 HG01517.hp1 HG01517.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0073 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077	4	428	0.0094	26	c.59 others(37): Show c.5915_*5916insATATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03516.hp2 NA19030.hp1 HG01884.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	3	428	0.0070	26	c.59 others(37): Show c.5916_*5917insTATATATATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0045 a0001c0002t0052g0045	1	444	0.0023	26	c.95 others(35): Show c.951_*976dupACACACACACACACACACACACACAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOLA1_chrX_149536012_149553331	149539556	G G	GCAGCTCC others(19): Show GCAGCTCCACCCCAGCTTCGTTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	315	0.0032	26	c.-20 others(37): Show c.-2017_-2016insCAGCTCCACCCCAGCTTCGTTTCCCA	EOLA1	ENSG00000197620.11	transcript	ENST00000393985.8	protein_coding		1455		chrX	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	400	0.0025	26	c.57 others(37): Show c.5753_*5754insAAAATATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18964.hp1 HG02258.hp2 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0003 a0002c0002t0002 a0002c0003t0003	a0002c0002t0002g0008 a0002c0003t0003g0024 a0002c0002t0002g0008 a0002c0003t0003g0024	2	400	0.0050	26	c.57 others(37): Show c.5753_*5754insAAAAAATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	400	0.0025	26	c.57 others(37): Show c.5753_*5754insAAAAAAAAAAAATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03492.hp1 NA18980.hp1 HG00738.hp1 HG03492.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0001c0011 a0002c0003	a0001c0011t0031 a0002c0003t0001 a0001c0011t0031 a0002c0003t0001	a0001c0011t0031g0191 a0002c0003t0001g0050 a0002c0003t0001g0153 a0001c0011t0031g0191 a0002c0003t0001g0050 a0002c0003t0001g0153	3	300	0.0100	26	c.314 others(43): Show c.3143-596_3143-595insTTTTTTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	356	0.0028	26	c.705 others(43): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03710.hp2 NA18968.hp1 HG03017.hp1 HG03710.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0033 a0001c0001t0001g0265 a0001c0001t0001g0267	3	356	0.0084	26	c.705 others(43): Show c.705+1039_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19002.hp1 HG02083.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0192 a0001c0002t0001g0168 a0001c0001t0001g0192 a0001c0002t0001g0168	2	228	0.0088	26	c.100 others(43): Show c.100-7041_100-7016dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112367814	C C	CCTCAGTA others(19): Show CCTCAGTACCTGGCTGAACAAACTGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02647.hp2 others(1): Show HG02258.hp1 HG02630.hp2 HG02647.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0003 a0002c0003t0006 a0002c0008t0001 others(1): Show a0002c0003t0003 a0002c0003t0006 a0002c0008t0001 a0002c0008t0021	a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0008t0001g0214 others(1): Show a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0008t0001g0214 a0002c0008t0021g0078	4	228	0.0175	26	c.99+ others(43): Show c.99+51101_99+51126dupTTCAGTTTGTTCAGCCAGGTACTGAG	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109226670	T T	TATATATG others(19): Show TATATATGAAGAATATATATATGAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(1): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1	a0003 a0003	a0003c0006 a0003c0011 a0003c0006 a0003c0011	a0003c0006t0001 a0003c0011t0001 a0003c0006t0001 a0003c0011t0001	a0003c0006t0001g0017 a0003c0006t0001g0018 a0003c0006t0001g0020 others(1): Show a0003c0006t0001g0017 a0003c0006t0001g0018 a0003c0006t0001g0020 a0003c0011t0001g0019	4	318	0.0126	26	c.141 others(45): Show c.1410-9526_1410-9525insTCTTCATATATATATTCTTCATATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 NA18975.hp2 HG02647.hp1 HG02647.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0012 a0002c0005t0064 a0001c0001t0001 a0001c0002t0012 a0002c0005t0064	a0001c0001t0001g0115 a0001c0002t0012g0208 a0002c0005t0064g0245 a0001c0001t0001g0115 a0001c0002t0012g0208 a0002c0005t0064g0245	3	318	0.0094	26	c.307 others(43): Show c.307-8827_307-8802dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109290710	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	318	0.0031	26	c.307 others(45): Show c.307-10790_307-10789insATATATATATATATATATATATATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03453.hp1 NA19004.hp1 HG02132.hp1 HG03453.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0018 a0002c0002t0001 a0002c0002t0018	a0002c0002t0001g0139 a0002c0002t0001g0247 a0002c0002t0018g0207 a0002c0002t0001g0139 a0002c0002t0001g0247 a0002c0002t0018g0207	3	278	0.0108	26	c.117 others(45): Show c.1179-2080_1179-2055dupGTGTGTGTGTGTGTGTGTGTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	312	0.0032	26	c.-8+ others(41): Show c.-8+7194_-8+7195insTATATATATATATATATATATATATA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28921961	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00673.hp2 others(13): Show HG00408.hp1 HG00621.hp1 HG00673.hp2 HG01168.hp2 HG02451.hp1 HG02886.hp1 HG03471.hp2 HG03669.hp2 HG03831.hp2 NA18747.hp2 NA18948.hp1 NA18959.hp2 NA18961.hp1 NA18989.hp1 NA18995.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0003c0015t0002	a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 others(13): Show a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0005g0177 a0001c0001t0015g0175 a0001c0001t0020g0214 a0003c0015t0002g0178	16	312	0.0513	26	c.-8+ others(41): Show c.-8+7194_-8+7195insTATATATATATATATATATATATACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 NA18747.hp2 others(2): Show HG00733.hp2 HG01099.hp2 NA18747.hp2 NA19070.hp2 NA19087.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0006c0010t0001 a0001c0001t0001 a0001c0001t0002 a0006c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0002g0173 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0002g0173 a0001c0001t0002g0179 a0006c0010t0001g0065	5	312	0.0160	26	c.-8+ others(43): Show c.-8+20675_-8+20700dupACACACACACACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18995.hp1 HG02015.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0002g0174 a0001c0001t0001g0042 a0001c0001t0002g0174	2	312	0.0064	26	c.-8+ others(43): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(19): Show ACACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	312	0.0032	26	c.-8+ others(43): Show c.-8+20700_-8+20701insACACACACACACACACACACCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290505	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0035 a0001c0005t0001g0035	1	318	0.0031	26	c.975 others(41): Show c.975+657_975+658insCTTTCTTTTTTTTTTTTTTTTTTTTT	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13			chr10	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(15): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG01361.hp2 HG02055.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp2 HG04115.hp1 NA18960.hp1 NA18998.hp1 NA19006.hp1 NA19056.hp1 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0028	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0149 others(15): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0149 a0001c0001t0002g0058 a0001c0001t0002g0187 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0164 a0001c0001t0004g0188 a0001c0001t0006g0059 a0001c0001t0006g0065 a0001c0001t0006g0073 a0001c0002t0002g0061 a0001c0002t0002g0148 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0167 a0001c0002t0028g0137	18	448	0.0402	26	c.270 others(45): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA3_chr3_89102621_89487134	89352902	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0018 a0002c0005t0018	a0002c0005t0018g0088 a0002c0005t0018g0088	1	200	0.0050	26	c.130 others(47): Show c.1306+10833_1306+10834insAAAAAAAAAAAAAAAAAAAAAAAA AA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221417161	C C	CCAGGTTC others(19): Show CCAGGTTCTGAAATTCTTTTTAAGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00639.hp2 others(124): Show HG00323.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18956.hp1 NA18959.hp1 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18986.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19081.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(34): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0002t0002 a0001c0002t0004 a0001c0002t0012 a0001c0002t0022 a0001c0002t0028 a0001c0002t0029 a0001c0003t0003 a0001c0003t0004 a0001c0003t0046 a0001c0004t0019 a0001c0006t0003 a0001c0008t0003 a0001c0009t0002 a0001c0012t0018	a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 others(124): Show a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0279 a0001c0001t0003g0289 a0001c0001t0004g0003 a0001c0001t0004g0021 a0001c0001t0004g0057 a0001c0001t0004g0074 a0001c0001t0004g0174 a0001c0001t0004g0194 a0001c0001t0004g0203 a0001c0001t0004g0235 a0001c0001t0004g0285 a0001c0001t0004g0291 a0001c0001t0008g0117 a0001c0001t0008g0132 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0010g0107 a0001c0001t0010g0110 a0001c0001t0010g0288 a0001c0001t0011g0138 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0012g0275 a0001c0001t0013g0290 a0001c0001t0013g0293 a0001c0001t0015g0244 a0001c0001t0015g0286 a0001c0001t0017g0098 a0001c0001t0017g0103 a0001c0001t0018g0113 a0001c0001t0021g0083 a0001c0001t0021g0156 a0001c0001t0024g0129 a0001c0001t0025g0233 a0001c0001t0027g0137 a0001c0001t0030g0130 a0001c0001t0033g0170 a0001c0001t0034g0243 a0001c0001t0040g0128 a0001c0001t0043g0124 a0001c0001t0044g0232 a0001c0001t0048g0162 a0001c0001t0049g0227 a0001c0002t0002g0043 a0001c0002t0002g0053 a0001c0002t0004g0104 a0001c0002t0004g0234 a0001c0002t0012g0099 a0001c0002t0012g0101 a0001c0002t0022g0090 a0001c0002t0022g0273 a0001c0002t0028g0242 a0001c0002t0029g0269 a0001c0003t0003g0056 a0001c0003t0003g0079 a0001c0003t0003g0082 a0001c0003t0003g0091 a0001c0003t0003g0093 a0001c0003t0003g0114 a0001c0003t0003g0126 a0001c0003t0003g0133 a0001c0003t0003g0161 a0001c0003t0003g0226 a0001c0003t0003g0265 a0001c0003t0003g0281 a0001c0003t0003g0292 a0001c0003t0004g0084 a0001c0003t0004g0088 a0001c0003t0046g0278 a0001c0004t0019g0236 a0001c0004t0019g0237 a0001c0006t0003g0118 a0001c0008t0003g0157 a0001c0009t0002g0094 a0001c0012t0018g0272	127	294	0.4320	26	c.42 others(37): Show c.4210_*4211insAGTCTTAAAAAGAATTTCAGAACCTG	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding		865		chr2	TogoVar
EPHA4_chr2_221413027_221577304	221550416	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	294	0.0034	26	c.823 others(45): Show c.823+13314_823+13315insTCTCTCTCTCTCTCTCTCTCTCTCTC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65522316	G G	GTATATAT others(19): Show GTATATATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02451.hp2 others(5): Show HG01884.hp1 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0004c0011t0010	a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 others(5): Show a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0008g0094 a0001c0001t0008g0113 a0001c0001t0012g0005 a0001c0001t0018g0093 a0004c0011t0010g0154	8	234	0.0342	26	c.911 others(45): Show c.911-26774_911-26773insTATGTATATATATATATATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574601	T T	TATATATA others(19): Show TATATATATACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 NA19064.hp2 HG02630.hp2 NA19043.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0003g0031 a0001c0001t0008g0094 a0001c0001t0018g0093 a0001c0001t0003g0031 a0001c0001t0008g0094 a0001c0001t0018g0093	3	234	0.0128	26	c.910 others(45): Show c.910+27039_910+27040insGTGTATATATATATATGTATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	234	0.0043	26	c.910 others(45): Show c.910+25586_910+25587insTCTTTTCTTTCTTTCTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	82	0.0122	26	c.111 others(45): Show c.1114+6740_1114+6741insTATATATATAGAGAGAGAGAGAGAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02258.hp2 HG01257.hp2 HG01258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0002 a0001c0001t0010 a0001c0004t0002	a0001c0001t0010g0077 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0001t0010g0077 a0001c0004t0002g0026 a0001c0004t0002g0027	3	82	0.0366	26	c.111 others(45): Show c.1114+6740_1114+6741insTATATATATATATAGAGAGAGAGAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02280.hp2 others(5): Show HG00642.hp1 HG02257.hp2 HG02280.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0002t0001 a0001c0003t0018 a0001c0009t0007	a0001c0001t0001g0013 a0001c0001t0004g0016 a0001c0001t0005g0018 others(5): Show a0001c0001t0001g0013 a0001c0001t0004g0016 a0001c0001t0005g0018 a0001c0001t0009g0019 a0001c0001t0028g0015 a0001c0002t0001g0078 a0001c0003t0018g0020 a0001c0009t0007g0014	8	82	0.0976	26	c.111 others(47): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT AT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	82	0.0122	26	c.111 others(47): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97493623	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0003 a0001c0003t0027g0003	1	82	0.0122	26	c.220 others(45): Show c.2200+9583_2200+9584insGTGTGTGTGTGTGTGTGTGTGTGTGT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0180 a0002c0004t0011g0180	1	342	0.0029	26	c.824 others(43): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGTGCGCGTGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18965.hp1 NA18970.hp2 others(1): Show HG04115.hp2 NA18965.hp1 NA18970.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0042 a0002c0003t0002 a0001c0010t0042 a0002c0003t0002	a0001c0010t0042g0094 a0002c0003t0002g0075 a0002c0003t0002g0076 others(1): Show a0001c0010t0042g0094 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0089	4	342	0.0117	26	c.824 others(43): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGTGTGTGCGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	135052931	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	134	0.0075	26	c.806 others(45): Show c.806-53516_806-53515insGTGTGTGTGTATATATATGTGTGTAT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)