Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATGTGTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0028 a0001c0015t0028	a0001c0015t0028g0009 a0001c0015t0028g0009	1	226	0.0044	26	c.110 others(45): Show c.1107+1224_1107+1225insTATACACATACACACACACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATGTGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01192.hp2 others(1): Show HG00609.hp2 HG00673.hp2 HG01192.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0005 a0001c0004t0002 a0001c0002t0003 a0001c0002t0005 a0001c0004t0002	a0001c0002t0003g0178 a0001c0002t0005g0115 a0001c0002t0005g0188 others(1): Show a0001c0002t0003g0178 a0001c0002t0005g0115 a0001c0002t0005g0188 a0001c0004t0002g0062	4	226	0.0177	26	c.110 others(45): Show c.1107+1224_1107+1225insTACACATACACACACACACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59268720	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp2 HG00140.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0035 a0001c0004t0021 a0001c0002t0035 a0001c0004t0021	a0001c0002t0035g0111 a0001c0004t0021g0087 a0001c0002t0035g0111 a0001c0004t0021g0087	2	226	0.0089	26	c.147 others(43): Show c.147+3585_147+3586insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	2/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282897	G G	GGGGGGAG others(19): Show GGGGGGAGGGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	226	0.0044	26	c.4-1 others(41): Show c.4-10449_4-10448insTCCCCCTCCCCCCTCCCCCCTCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282898	G G	GGGGGGAG others(19): Show GGGGGGAGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03540.hp2 others(2): Show HG02895.hp2 HG02897.hp1 HG03540.hp2 NA18941.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0003t0011	a0001c0001t0001g0161 a0001c0001t0005g0201 a0001c0002t0003g0114 others(2): Show a0001c0001t0001g0161 a0001c0001t0005g0201 a0001c0002t0003g0114 a0001c0003t0011g0165 a0001c0003t0011g0166	5	226	0.0221	26	c.4-1 others(41): Show c.4-10450_4-10449insTCCCCCCTCCCCCCTCCCCCTCCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59297437	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0012 a0001c0011t0031g0012	1	226	0.0044	26	c.4-2 others(41): Show c.4-24989_4-24988insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(19): Show CTTTTTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	226	0.0044	26	c.4-4 others(41): Show c.4-47102_4-47101insAAAAAAAAAAAAAAAAGAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0056 a0001c0001t0014g0056	1	226	0.0044	26	c.4-4 others(41): Show c.4-47127_4-47102dupAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59353369	A A	AAAAAAGA others(19): Show AAAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	226	0.0044	26	c.3+1 others(41): Show c.3+19128_3+19129insCTTTTCTTTTCTTTTCTTTTCTTTTT	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(19): Show ACACACACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18942.hp2 HG02074.hp1 NA18942.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0003 a0005c0013t0003 a0001c0001t0003 a0005c0013t0003	a0001c0001t0003g0260 a0005c0013t0003g0328 a0001c0001t0003g0260 a0005c0013t0003g0328	2	342	0.0059	26	c.327 others(41): Show c.327-458_327-457insAGAGTGTGTGTGTGTGTGTGTGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(19): Show ACACACACACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	342	0.0029	26	c.327 others(41): Show c.327-458_327-457insAGAGAGAGAGTGTGTGTGTGTGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(19): Show ACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02976.hp2 HG02895.hp1 HG02976.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0007c0017t0002 a0001c0001t0001 a0007c0017t0002	a0001c0001t0001g0263 a0007c0017t0002g0280 a0001c0001t0001g0263 a0007c0017t0002g0280	2	342	0.0059	26	c.327 others(41): Show c.327-458_327-457insAGAGAGAGAGAGAGTGTGTGTGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574577	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	342	0.0029	26	c.3+2 others(39): Show c.3+2729_3+2730insGAGAGAGAGAAAGAAAGAAAGAAAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961109	A A	AGCTGAGG others(19): Show AGCTGAGGGGCTGAGGGGGCTGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA18906.hp1 HG02109.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	2	378	0.0053	26	c.16 others(37): Show c.1629_*1630insCCTCTCAGCCCCCTCAGCCCCTCAGC	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1552		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109427907	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19088.hp1 HG00738.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0115 a0002c0001t0001g0198 a0002c0001t0001g0115 a0002c0001t0001g0198	2	312	0.0064	26	c.194 others(43): Show c.1949+322_1949+323insTATATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0302 a0001c0006t0001g0302	1	312	0.0032	26	c.194 others(43): Show c.1949+324_1949+325insAAAAAAAATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0068 a0002c0026t0001g0068	1	312	0.0032	26	c.194 others(43): Show c.1949+324_1949+325insAAAAAATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0135 a0001c0004t0001g0135	1	312	0.0032	26	c.194 others(43): Show c.1949+324_1949+325insAAAATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0088 a0001c0004t0001g0088	1	312	0.0032	26	c.194 others(43): Show c.1949+324_1949+325insAATATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02056.hp1 NA18991.hp2 HG00735.hp2 HG02056.hp1 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0001 a0002c0001t0004	a0002c0001t0001g0128 a0002c0001t0001g0157 a0002c0001t0004g0226 a0002c0001t0001g0128 a0002c0001t0001g0157 a0002c0001t0004g0226	3	312	0.0096	26	c.194 others(43): Show c.1949+326_1949+351dupATATATATATATATATATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443196	A A	ATGTGTGT others(19): Show ATGTGTGTATATATGTGTACGTATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02572.hp2 others(8): Show HG02109.hp1 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0001 a0001c0005t0005 a0001c0006t0005 a0001c0003t0001 a0001c0005t0005 a0001c0006t0005	a0001c0003t0001g0297 a0001c0005t0005g0014 a0001c0006t0005g0285 others(8): Show a0001c0003t0001g0297 a0001c0005t0005g0014 a0001c0006t0005g0285 a0001c0006t0005g0293 a0001c0006t0005g0298 a0001c0006t0005g0299 a0001c0006t0005g0300 a0001c0006t0005g0304 a0001c0006t0005g0307 a0001c0006t0005g0308 a0001c0006t0005g0309	11	312	0.0353	26	c.268 others(43): Show c.2689-307_2689-306insATGTGTACGTATATGTGTGTGTATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443196	A A	ATGTGTGT others(19): Show ATGTGTGTGTATATGTGTACGTATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02723.hp2 HG01361.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0271 a0001c0003t0002g0277 a0001c0003t0002g0271 a0001c0003t0002g0277	2	312	0.0064	26	c.268 others(43): Show c.2689-311_2689-310insGTATATGTGTACGTATATGTGTGTGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO3B_chr2_170173147_170660167	170174301	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG00733.hp1 others(8): Show HG00621.hp1 HG00673.hp2 HG00733.hp1 HG02683.hp1 HG03710.hp2 NA18939.hp1 NA18948.hp2 NA18984.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0002c0023 a0002c0032 others(5): Show a0001c0001 a0002c0023 a0002c0032 a0003c0003 a0004c0061 a0004c0063 a0007c0009 a0010c0054	a0001c0001t0002 a0002c0023t0001 a0002c0032t0001 others(8): Show a0001c0001t0002 a0002c0023t0001 a0002c0032t0001 a0003c0003t0002 a0003c0003t0003 a0004c0061t0002 a0004c0063t0001 a0007c0009t0001 a0007c0009t0003 a0007c0009t0005 a0010c0054t0003	a0001c0001t0002g0061 a0002c0023t0001g0062 a0002c0032t0001g0023 others(8): Show a0001c0001t0002g0061 a0002c0023t0001g0062 a0002c0032t0001g0023 a0003c0003t0002g0058 a0003c0003t0003g0034 a0004c0061t0002g0049 a0004c0063t0001g0053 a0007c0009t0001g0028 a0007c0009t0003g0057 a0007c0009t0005g0045 a0010c0054t0003g0031	11	174	0.0632	26	c.-39 others(37): Show c.-3987_-3986insGTGTGTGTGTGTGTGTGTGTGTGTGA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding		3845		chr2	TogoVar
MYO3B_chr2_170173147_170660167	170230336	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0030 a0030	a0030c0051 a0030c0051	a0030c0051t0004 a0030c0051t0004	a0030c0051t0004g0130 a0030c0051t0004g0130	1	174	0.0058	26	c.604 others(43): Show c.604-5654_604-5629dupTTTTTTTTTTTTTTTTTTTTTTTTTT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170648942	T T	TATATATA others(19): Show TATATATAAAATAATATATAATGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00099.hp2 HG00140.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0001 a0001c0004t0001 a0002c0006t0001	a0001c0004t0001g0104 a0002c0006t0001g0105 a0001c0004t0001g0104 a0002c0006t0001g0105	2	174	0.0115	26	c.373 others(45): Show c.3734-2607_3734-2582dupATATATAAAATAATATATAATGTATA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649189	T T	TATATATT others(19): Show TATATATTATATATAAAATAATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0021 a0001c0002 a0006c0021	a0001c0002t0001 a0006c0021t0001 a0001c0002t0001 a0006c0021t0001	a0001c0002t0001g0155 a0006c0021t0001g0148 a0001c0002t0001g0155 a0006c0021t0001g0148	2	174	0.0115	26	c.373 others(45): Show c.3734-2412_3734-2387dupATATATTATATATAAAATAATATATA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02055.hp2 HG02717.hp2 others(1): Show HG02004.hp2 HG02055.hp2 HG02717.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 a0005c0009t0001	a0001c0001t0001g0238 a0001c0001t0016g0279 a0001c0001t0022g0153 others(1): Show a0001c0001t0001g0238 a0001c0001t0016g0279 a0001c0001t0022g0153 a0005c0009t0001g0195	4	302	0.0133	26	c.220 others(45): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5B_chr18_49817789_50200147	49974798	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01243.hp1 others(11): Show HG01069.hp1 HG01069.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01943.hp1 HG02040.hp2 HG02109.hp1 HG02622.hp1 HG02683.hp2 HG02976.hp1 HG03453.hp2 NA19058.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0002 a0001c0037 others(4): Show a0001c0001 a0001c0002 a0001c0037 a0002c0003 a0002c0005 a0003c0004 a0015c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0037t0001 a0002c0003t0002 a0002c0005t0005 a0002c0005t0009 a0003c0004t0003 a0015c0066t0003	a0001c0001t0001g0101 a0001c0001t0001g0209 a0001c0001t0002g0019 others(11): Show a0001c0001t0001g0101 a0001c0001t0001g0209 a0001c0001t0002g0019 a0001c0001t0006g0223 a0001c0001t0017g0220 a0001c0002t0001g0135 a0001c0037t0001g0119 a0002c0003t0002g0147 a0002c0005t0005g0117 a0002c0005t0009g0092 a0002c0005t0009g0097 a0002c0005t0009g0099 a0003c0004t0003g0086 a0015c0066t0003g0054	14	238	0.0588	26	c.105 others(43): Show c.1057-209_1057-184dupGTGTGTGTGTGTGTGTGTGTGTGTGT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	9/39			chr18	TogoVar
MYO5C_chr15_52187322_52300804	52222601	A A	AGTGGTGG others(19): Show AGTGGTGGGGACACACGACAGAATGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0034 a0015c0021t0034	a0015c0021t0034g0104 a0015c0021t0034g0104	1	360	0.0028	26	c.362 others(43): Show c.3627+917_3627+942dupCCCATTCTGTCGTGTGTCCCCACCAC	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	29/40			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52222610	G G	GACACACG others(19): Show GACACACGACAGAATGGGGTGGTGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02723.hp1 HG02071.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0038 a0001c0001t0001 a0001c0030t0038	a0001c0001t0001g0250 a0001c0030t0038g0322 a0001c0001t0001g0250 a0001c0030t0038g0322	2	360	0.0056	26	c.362 others(43): Show c.3627+908_3627+933dupGCCCACCACCCCATTCTGTCGTGTGT	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	29/40			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 NA18522.hp1 others(1): Show HG00741.hp2 HG03654.hp1 NA18522.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0027 a0002c0002 a0006c0009 a0001c0027 a0002c0002 a0006c0009	a0001c0027t0004 a0002c0002t0002 a0006c0009t0002 a0001c0027t0004 a0002c0002t0002 a0006c0009t0002	a0001c0027t0004g0145 a0002c0002t0002g0144 a0006c0009t0002g0351 others(1): Show a0001c0027t0004g0145 a0002c0002t0002g0144 a0006c0009t0002g0351 a0006c0009t0002g0352	4	360	0.0111	26	c.27+ others(41): Show c.27+3878_27+3879insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO7A_chr11_77123246_77220241	77192942	T T	TGGAGGTG others(19): Show TGGAGGTGGTGATGGTGTTGATGGTGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02683.hp2 HG03654.hp1 HG01070.hp1 HG02683.hp2 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0072	3	356	0.0084	26	c.415 others(43): Show c.4152+670_4152+671insGGTGATGGTGTTGATGGTGGGGAGGT	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77193051	G G	GGTGATGG others(19): Show GGTGATGGTGTTGATGGTGGGGAGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(38): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03704.hp2 HG04115.hp2 NA18906.hp1 NA18986.hp1 NA19002.hp1 NA19060.hp2 NA19240.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0012 a0022 a0040	a0001c0003 a0001c0005 a0001c0018 others(23): Show a0001c0003 a0001c0005 a0001c0018 a0001c0020 a0001c0042 a0001c0071 a0001c0075 a0001c0090 a0004c0004 a0004c0007 a0004c0037 a0004c0105 a0004c0106 a0004c0120 a0004c0122 a0005c0017 a0005c0056 a0005c0096 a0006c0006 a0007c0024 a0008c0100 a0008c0110 a0008c0111 a0012c0023 a0022c0104 a0040c0049	a0001c0003t0001 a0001c0005t0001 a0001c0018t0001 others(23): Show a0001c0003t0001 a0001c0005t0001 a0001c0018t0001 a0001c0020t0001 a0001c0042t0001 a0001c0071t0001 a0001c0075t0001 a0001c0090t0001 a0004c0004t0001 a0004c0007t0001 a0004c0037t0001 a0004c0105t0001 a0004c0106t0001 a0004c0120t0001 a0004c0122t0001 a0005c0017t0001 a0005c0056t0001 a0005c0096t0001 a0006c0006t0001 a0007c0024t0001 a0008c0100t0002 a0008c0110t0001 a0008c0111t0001 a0012c0023t0001 a0022c0104t0001 a0040c0049t0001	a0001c0003t0001g0052 a0001c0003t0001g0126 a0001c0005t0001g0015 others(35): Show a0001c0003t0001g0052 a0001c0003t0001g0126 a0001c0005t0001g0015 a0001c0005t0001g0138 a0001c0005t0001g0308 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0018t0001g0317 a0001c0020t0001g0097 a0001c0020t0001g0098 a0001c0020t0001g0099 a0001c0020t0001g0310 a0001c0042t0001g0328 a0001c0071t0001g0335 a0001c0075t0001g0309 a0001c0090t0001g0267 a0004c0004t0001g0242 a0004c0007t0001g0175 a0004c0037t0001g0010 a0004c0105t0001g0226 a0004c0106t0001g0196 a0004c0120t0001g0174 a0004c0122t0001g0241 a0005c0017t0001g0135 a0005c0017t0001g0316 a0005c0056t0001g0307 a0005c0096t0001g0062 a0006c0006t0001g0020 a0007c0024t0001g0008 a0007c0024t0001g0257 a0008c0100t0002g0225 a0008c0110t0001g0167 a0008c0111t0001g0150 a0012c0023t0001g0189 a0012c0023t0001g0262 a0012c0023t0001g0263 a0022c0104t0001g0144 a0040c0049t0001g0093	41	356	0.1152	26	c.415 others(43): Show c.4152+785_4152+786insATGGTGGGGAGGTAGTGATGGTGTTG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO9A_chr15_71817291_72123150	71860969	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0044 a0001c0002t0006g0044	1	308	0.0033	26	c.609 others(45): Show c.6092-1174_6092-1173insTTTTTTTTTTTTTTTTTTTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	33/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71867798	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	308	0.0033	26	c.598 others(45): Show c.5980-5213_5980-5188dupTGTGTGTGTGTGTGTGTGTGTGTGTG	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	32/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01891.hp2 HG02055.hp1 others(10): Show HG00140.hp2 HG01891.hp2 HG02055.hp1 HG02622.hp2 HG02723.hp1 HG03579.hp1 NA18953.hp1 NA18983.hp1 NA18991.hp1 NA19058.hp2 NA19070.hp2 NA19084.hp1 NA19087.hp2	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0009c0010 a0011c0015 a0001c0001 a0009c0010 a0011c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0009c0010t0001 a0011c0015t0001	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0136 others(10): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0005g0108 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0009g0165 a0009c0010t0001g0132 a0011c0015t0001g0104 a0011c0015t0001g0105	13	308	0.0422	26	c.268 others(45): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAAAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71925366	C C	CATATATA others(19): Show CATATATACGTATATACGTGTATATGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18978.hp2 NA18952.hp1 NA18978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0027 a0002c0003t0003 a0002c0003t0027	a0002c0003t0003g0258 a0002c0003t0027g0262 a0002c0003t0003g0258 a0002c0003t0027g0262	2	308	0.0065	26	c.256 others(45): Show c.2562+8278_2562+8303dupCCATATACACGTATATACGTATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928027	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02572.hp1 HG03225.hp2 HG00597.hp2 HG02572.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0004 a0001c0002t0056 a0001c0001t0009 a0001c0002t0004 a0001c0002t0056	a0001c0001t0009g0198 a0001c0002t0004g0080 a0001c0002t0056g0287 a0001c0001t0009g0198 a0001c0002t0004g0080 a0001c0002t0056g0287	3	308	0.0097	26	c.256 others(45): Show c.2562+5617_2562+5642dupATATATATATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	308	0.0033	26	c.256 others(45): Show c.2562+5613_2562+5614insAATATATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0158 a0001c0001t0009g0158	1	308	0.0033	26	c.256 others(45): Show c.2562+5613_2562+5614insAAAAAATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18966.hp2 HG02155.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0157 a0001c0001t0001g0173	2	308	0.0065	26	c.256 others(45): Show c.2562+5613_2562+5614insAAAAAAAATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0005 a0001c0001t0054g0005	1	308	0.0033	26	c.218 others(45): Show c.2182+3570_2182+3571insATATATATATATATATTTTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0219 a0001c0001t0005g0214 a0001c0001t0005g0219	2	308	0.0065	26	c.218 others(45): Show c.2182+3570_2182+3571insATATATATATATATATATTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71966265	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0056 a0001c0001t0001 a0001c0002t0056	a0001c0001t0001g0147 a0001c0002t0056g0287 a0001c0001t0001g0147 a0001c0002t0056g0287	2	308	0.0065	26	c.198 others(45): Show c.1986+1693_1986+1718dupACACACACACACACACACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	13/41			chr15	TogoVar
MYO9B_chr19_17070777_17218286	17121444	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	262	0.0038	26	c.840 others(45): Show c.840+18907_840+18908insATATATATATATATATATATATATAT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0187 a0001c0003t0187	a0001c0003t0187g0271 a0001c0003t0187g0271	1	346	0.0029	26	c.-26 others(37): Show c.-2687_-2686insCGCACACACACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12697359	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0001t0010g0230 a0001c0001t0010g0231	2	346	0.0058	26	c.56- others(41): Show c.56-7768_56-7767insATATATATATATATATTTTTTTTTTT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12714323	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0115 a0001c0001t0017g0115	1	346	0.0029	26	c.122 others(43): Show c.122-1182_122-1157dupACACACACACACACACACACACACAC	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749717	A A	ATACATAT others(19): Show ATACATATATGTATATATATGTGTATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG03540.hp2 others(1): Show HG02647.hp2 HG02886.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0072 a0001c0001t0105 a0001c0001t0206 others(1): Show a0001c0001t0072 a0001c0001t0105 a0001c0001t0206 a0001c0003t0209	a0001c0001t0072g0337 a0001c0001t0105g0309 a0001c0001t0206g0334 others(1): Show a0001c0001t0072g0337 a0001c0001t0105g0309 a0001c0001t0206g0334 a0001c0003t0209g0038	4	346	0.0116	26	c.112 others(45): Show c.1126-2696_1126-2695insACATATATGTATATATATGTGTATGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOF_chr10_93301429_93487334	93354666	A A	ACTCTCTC others(19): Show ACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19085.hp1 HG02602.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0087 a0001c0005t0001g0099 a0001c0001t0001g0087 a0001c0005t0001g0099	2	240	0.0083	26	c.340 others(43): Show c.3404-804_3404-779dupAGAGAGAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar

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