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
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03831.hp2 NA19010.hp2 HG00609.hp2 HG03831.hp2 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0239 a0001c0001t0002g0282 a0003c0003t0002g0214 a0001c0001t0002g0239 a0001c0001t0002g0282 a0003c0003t0002g0214	3	358	0.0084	34	c.224 others(49): Show c.2242+52_2242+85dupATATATATATATATATATATATATATATAT ATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0356	1	358	0.0028	34	c.224 others(49): Show c.2242+49_2242+50insTTATATATATATATATATATATATATATAT ATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88793959	G G	GAATATGA others(27): Show GAATATGAACAAGATTTATCAATACCTCTAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0307 a0001c0003t0004g0307	1	332	0.0030	34	c.-14 others(45): Show c.-1457_-1456insATTTTTAGAGGTATTGATAAATCTTGTTCATATT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		1007		chr14	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01978.hp1 others(2): Show HG00099.hp1 HG01175.hp2 HG01978.hp1 NA18983.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0044 a0001c0003t0002 a0001c0001t0001 a0001c0002t0044 a0001c0003t0002	a0001c0001t0001g0063 a0001c0001t0001g0147 a0001c0001t0001g0177 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0002t0044g0210 a0001c0003t0002g0148	5	264	0.0189	34	c.525 others(51): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54848524	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18966.hp2 NA18952.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0001g0190 a0001c0001t0002g0189	2	264	0.0076	34	c.118 others(51): Show c.1187+928_1187+929insCACACACACACACACACACACACACACA CACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	9/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01074.hp1 others(8): Show HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01361.hp1 HG02257.hp1 HG02735.hp2 NA18951.hp2 NA18966.hp2 NA18971.hp1 NA18999.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0002t0011 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0011 a0001c0003t0002 a0001c0003t0004 a0001c0010t0050	a0001c0001t0001g0190 a0001c0002t0011g0131 a0001c0003t0002g0151 others(8): Show a0001c0001t0001g0190 a0001c0002t0011g0131 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0176 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0010t0050g0226	11	264	0.0417	34	c.243 others(53): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	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(27): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0004 a0001c0002t0006g0004	1	264	0.0038	34	c.496 others(51): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENG_chr9_127810016_127859658	127837810	C C	CCATCCAT others(27): Show CCATCCATCCATCCATCCATCCACATCCATCCATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG02572.hp1 others(8): Show HG00738.hp2 HG01106.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 a0003c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0178 a0001c0001t0001g0292 others(8): Show a0001c0001t0001g0045 a0001c0001t0001g0178 a0001c0001t0001g0292 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0052 a0001c0014t0001g0028 a0003c0005t0001g0325 a0003c0005t0001g0326	11	344	0.0320	34	c.219 others(51): Show c.219+5283_219+5284insAATGGATGGATGTGGATGGATGGATGGA TGGATG	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0250 a0001c0001t0005g0253 a0001c0001t0005g0250 a0001c0001t0005g0253	2	384	0.0052	34	c.223 others(51): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA TATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENKUR_chr10_24976985_25021158	25020276	A A	ATATCTAT others(27): Show ATATCTATATCTATATCTATATCTATATCTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA19055.hp1 HG04204.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0085 a0001c0001t0009g0120 a0001c0001t0002g0085 a0001c0001t0009g0120	2	384	0.0052	34	c.-43 others(45): Show c.-4341_-4340insGATATAGATATAGATATAGATATAGATATAGATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding		4119		chr10	TogoVar
ENOSF1_chr18_665318_717630	667456	A A	ATGGAGAT others(27): Show ATGGAGATGGTGATGGTGATGGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0039 a0002c0002t0033g0039	1	418	0.0024	34	c.68 others(45): Show c.6848_*6849insCCATCACCATCACCCATCACCATCACCATCTCCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2861		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	188	0.0053	34	c.161 others(55): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAAATATATATA TATATATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43470396	A A	ATGTATAT others(27): Show ATGTATATATATACACATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0103 a0001c0001t0018g0103	1	188	0.0053	34	c.-75 others(53): Show c.-75+13612_-75+13613insCATATATATACATATATATGTGTATA TATATACA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131721566	C C	CATGCAAA others(27): Show CATGCAAATTGTATGTTTCTATGAAACATACAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03041.hp1 others(3): Show HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 others(3): Show a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 a0004c0004t0001g0037 a0004c0004t0001g0173 a0004c0004t0001g0188	6	278	0.0216	34	c.156 others(51): Show c.1568-659_1568-626dupTGCAAATTGTATGTTTCTATGAAACATA CAAATA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(27): Show CATATATATATATACACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	430	0.0023	34	c.253 others(49): Show c.253+739_253+740insATACACATATATACACATATATATATATAT ATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(27): Show CATATATATATATATACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp2 HG01516.hp1 others(2): Show HG00735.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0139 others(1): Show a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0139 a0002c0001t0002g0049	5	430	0.0116	34	c.253 others(49): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732134	A A	ATATATAT others(27): Show ATATATATATATATACACACACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18979.hp1 NA19005.hp2 others(1): Show HG02155.hp1 NA18979.hp1 NA19005.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0065 a0001c0003t0001g0223 a0001c0003t0001g0224	4	430	0.0093	34	c.253 others(49): Show c.253+756_253+757insCACACACATATATATATATGTATATATATA TATA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746614	G G	GAGGGATC others(27): Show GAGGGATCCCCTGAGGGAAGGGATCCCCTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	430	0.0023	34	c.48 others(45): Show c.4837_*4838insAGGGATCCCCTGAGGGAAGGGATCCCCTGAGGGA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		4396		chr17	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(27): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	356	0.0028	34	c.705 others(51): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	356	0.0028	34	c.-14 others(53): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp2 HG01891.hp1 others(2): Show HG00735.hp2 HG01516.hp2 HG01891.hp1 HG01993.hp1 HG02300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0003 a0003c0004t0002	a0001c0001t0001g0077 a0001c0001t0001g0153 a0001c0002t0002g0170 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0153 a0001c0002t0002g0170 a0002c0003t0003g0076 a0003c0004t0002g0150	5	222	0.0225	34	c.-11 others(53): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0020 a0008c0009t0002g0020	1	222	0.0045	34	c.-11 others(53): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TACACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	278	0.0036	34	c.117 others(53): Show c.1179-2055_1179-2054insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28921961	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	312	0.0032	34	c.-8+ others(49): Show c.-8+7194_-8+7195insTATATATATATATATATATATATATATATA TACA	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(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp2 HG02965.hp1 others(3): Show HG02015.hp1 HG02074.hp2 HG02965.hp1 HG03491.hp2 HG03492.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002	a0001c0001t0001g0129 a0001c0001t0002g0239 a0001c0001t0002g0240 others(3): Show a0001c0001t0001g0129 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0005g0121 a0001c0001t0010g0163 a0001c0003t0002g0220	6	312	0.0192	34	c.-8+ others(51): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACAC	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(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03486.hp1 HG03704.hp2 others(1): Show HG01515.hp2 HG03486.hp1 HG03704.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0136 a0001c0001t0002g0273 a0001c0001t0002g0290 others(1): Show a0001c0001t0001g0136 a0001c0001t0002g0273 a0001c0001t0002g0290 a0001c0001t0011g0148	4	312	0.0128	34	c.-8+ others(51): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCC	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(27): Show ACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18522.hp1 NA18522.hp2 others(2): Show HG02683.hp2 NA18522.hp1 NA18522.hp2 NA18955.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0002g0105 a0001c0001t0002g0108 others(2): Show a0001c0001t0001g0020 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0166 a0001c0001t0004g0045	5	312	0.0160	34	c.-8+ others(51): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACCCCC	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(27): Show ACACACACACACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04115.hp1 HG01257.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0161 a0001c0001t0005g0256 a0001c0001t0002g0161 a0001c0001t0005g0256	2	312	0.0064	34	c.-8+ others(51): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC CCCCCC	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(27): Show ACACACACACACACACACACACACACACCCCCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	312	0.0032	34	c.-8+ others(51): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC CCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp1 HG00609.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0154 a0001c0002t0002g0067 a0001c0001t0002g0154 a0001c0002t0002g0067	2	448	0.0045	34	c.270 others(53): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA4_chr2_221413027_221577304	221470524	T T	TAGTATCA others(27): Show TAGTATCACTTTAGGGAACCTCTGCTTTTCCCTAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18963.hp1 HG02523.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0260 a0001c0002t0001g0259 a0001c0001t0001g0260 a0001c0002t0001g0259	2	294	0.0068	34	c.131 others(55): Show c.1318+11794_1318+11827dupTTAGGGAAAAGCAGAGGTTCCCTA AAGTGATACT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	5/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65574679	C C	CATATATA others(27): Show CATATATATATACATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02615.hp1 others(5): Show HG01884.hp2 HG02258.hp1 HG02615.hp1 HG02717.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0026 others(1): Show a0001c0001t0010 a0001c0001t0021 a0001c0001t0026 a0001c0001t0047	a0001c0001t0010g0139 a0001c0001t0010g0149 a0001c0001t0010g0151 others(5): Show a0001c0001t0010g0139 a0001c0001t0010g0149 a0001c0001t0010g0151 a0001c0001t0010g0153 a0001c0001t0021g0144 a0001c0001t0021g0145 a0001c0001t0026g0152 a0001c0001t0047g0146	8	234	0.0342	34	c.910 others(53): Show c.910+26961_910+26962insATGTATATATATGTATATATATGTAT ATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA20300.hp1 HG01257.hp2 HG01258.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0015 a0001c0002t0002 a0001c0001t0007 a0001c0001t0015 a0001c0002t0002	a0001c0001t0007g0167 a0001c0001t0015g0188 a0001c0002t0002g0166 a0001c0001t0007g0167 a0001c0001t0015g0188 a0001c0002t0002g0166	3	234	0.0128	34	c.910 others(53): Show c.910+25586_910+25587insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(27): Show GAAAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18970.hp2 NA18981.hp2 others(1): Show HG02886.hp1 NA18970.hp2 NA18981.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0030 a0001c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0030 a0001c0002t0002 a0001c0002t0029	a0001c0001t0005g0212 a0001c0001t0030g0165 a0001c0002t0002g0223 others(1): Show a0001c0001t0005g0212 a0001c0001t0030g0165 a0001c0002t0002g0223 a0001c0002t0029g0162	4	234	0.0171	34	c.910 others(53): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTTCTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576115	A A	AAAAAAGA others(27): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	234	0.0043	34	c.910 others(53): Show c.910+25525_910+25526insCTTTTTTTCTTTTCTTTTCTTTTCTT TTCTTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0032 a0001c0002t0026g0032	1	82	0.0122	34	c.111 others(53): Show c.1114+6740_1114+6741insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGA	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(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp2 HG03130.hp1 others(3): Show HG01175.hp1 HG02258.hp2 HG03130.hp1 HG03195.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0010 a0001c0002t0001 a0001c0002t0025 others(1): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0025 a0001c0005t0004	a0001c0001t0010g0077 a0001c0002t0001g0005 a0001c0002t0001g0007 others(3): Show a0001c0001t0010g0077 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0025g0008 a0001c0005t0004g0046 a0001c0005t0004g0048	6	82	0.0732	34	c.111 others(55): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT ATATATATAT	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(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	82	0.0122	34	c.111 others(55): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085948	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	82	0.0122	34	c.111 others(55): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATACA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135192301	A A	AAAAACAA others(27): Show AAAAACAAACTCACATATATTCTGAAATTCCACTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(57): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18948.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0015	a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 others(28): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0008t0008 a0001c0009t0004 a0001c0011t0023 a0001c0015t0008	a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0014g0029 others(57): Show a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0014g0029 a0001c0001t0017g0059 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0032 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0002g0011 a0001c0002t0004g0110 a0001c0002t0006g0072 a0001c0002t0006g0074 a0001c0002t0006g0125 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0011g0098 a0001c0002t0016g0114 a0001c0002t0016g0116 a0001c0002t0018g0121 a0001c0002t0019g0075 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0089 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0003g0054 a0001c0003t0004g0106 a0001c0003t0004g0113 a0001c0003t0004g0119 a0001c0003t0005g0099 a0001c0003t0006g0063 a0001c0003t0007g0044 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0004t0001g0084 a0001c0004t0005g0097 a0001c0005t0001g0025 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0008t0008g0024 a0001c0009t0004g0001 a0001c0011t0023g0115 a0001c0015t0008g0013	60	134	0.4478	34	c.188 others(51): Show c.1883-274_1883-241dupAAAACAAACTCACATATATTCTGAAATT CCACTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	236	0.0042	34	c.231 others(49): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0111 a0004c0003t0001g0111	1	282	0.0036	34	c.766 others(51): Show c.766+3954_766+3955insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02698.hp2 HG01106.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0056 a0001c0001t0010g0042 a0001c0001t0005g0056 a0001c0001t0010g0042	2	282	0.0071	34	c.114 others(53): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00642.hp2 others(21): Show HG00438.hp2 HG00544.hp1 HG00642.hp2 HG00738.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG02148.hp2 HG02273.hp2 HG03239.hp2 HG03579.hp2 HG04115.hp2 NA18522.hp1 NA18942.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18982.hp1 NA18983.hp1 NA19011.hp1 NA19068.hp2 NA19085.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0027 a0001c0001 a0009c0027	a0001c0001t0002 a0009c0027t0002 a0001c0001t0002 a0009c0027t0002	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 others(21): Show a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0125 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0156 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0001t0002g0303 a0009c0027t0002g0351	24	358	0.0670	34	c.432 others(51): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	276	0.0036	34	c.238 others(53): Show c.2380+7445_2380+7446insACACACACACACACACACACACACAC ACACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23			chr19	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	34	c.-34 others(43): Show c.-346_-345insACACACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	318	0.0031	34	c.230 others(51): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211611407	A A	AGCTTTAC others(27): Show AGCTTTACTTTTGCTTTCGCTTTACTTTTGCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	56	0.0179	34	c.230 others(53): Show c.2301+7736_2301+7769dupGAAAGCAAAAGTAAAGCGAAAGCAAA AGTAAAGC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212391751	A A	AATATTGA others(27): Show AATATTGACATATATTATATATATGTCAATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG03225.hp1 others(4): Show HG01891.hp1 HG02922.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 a0001c0001t0025 a0001c0002t0016 a0001c0004t0021	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0012g0001 others(4): Show a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0012g0001 a0001c0001t0022g0006 a0001c0001t0025g0051 a0001c0002t0016g0019 a0001c0004t0021g0009	7	56	0.1250	34	c.82+ others(53): Show c.82+146664_82+146697dupAATATATTGACATATATATAATATAT GTCAATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018487	T T	TATAATAT others(27): Show TATAATATATATTATATAATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	306	0.0033	34	c.534 others(51): Show c.534-2835_534-2834insATAATATATATTATATAATATATATTAT ATAATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar

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Search Results (Total: 7994 hits)