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
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0022 a0002c0005t0003g0022	1	342	0.0029	38	c.327 others(53): Show c.327-458_327-457insAGAGAGAGAGAGAGTGTGTGTGTGTGTGTG TGTGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(31): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0210 a0001c0008t0005g0210	1	342	0.0029	38	c.327 others(53): Show c.327-458_327-457insAGAGAGAGAGAGAGAGAGAGTGTGTGTGTG TGTGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961609	A A	AGGCTGAG others(31): Show AGGCTGAGGGCTGAGGGGCTGAGGGCCTGAGGGACTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0027	38	c.11 others(49): Show c.1129_*1130insCTCAGTCCCTCAGGCCCTCAGCCCCTCAGCCCTC AGCC	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1052		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0200 a0004c0009t0003g0200	1	312	0.0032	38	c.194 others(55): Show c.1949+324_1949+325insAAAAAATATATATATATATATATATATA TATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443040	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATATGTGTACGTATATATGTGTACGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp1 HG02486.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0028 a0001c0006 a0001c0028	a0001c0006t0001 a0001c0028t0006 a0001c0006t0001 a0001c0028t0006	a0001c0006t0001g0286 a0001c0028t0006g0294 a0001c0006t0001g0286 a0001c0028t0006g0294	2	312	0.0064	38	c.268 others(55): Show c.2689-467_2689-466insGTGTATATGTGTACGTATATATGTGTAC GTATGTGTGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO3A_chr10_25929229_26217532	25970784	A A	ACAACTTT others(31): Show ACAACTTTATTCTTGATATTATGAACAACTTTATTAATG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0057 a0003c0003t0001g0057	1	280	0.0036	38	c.303 others(57): Show c.303+15776_303+15777insCAACTTTATTCTTGATATTATGAACA ACTTTATTAATG	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	4/34			chr10	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	302	0.0033	38	c.220 others(57): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0050 a0008c0009t0050	a0008c0009t0050g0267 a0008c0009t0050g0267	1	308	0.0033	38	c.218 others(57): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATATTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71975390	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19001.hp2 NA18971.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0007 a0001c0011t0052 a0001c0002t0007 a0001c0011t0052	a0001c0002t0007g0008 a0001c0011t0052g0016 a0001c0002t0007g0008 a0001c0011t0052g0016	2	308	0.0065	38	c.184 others(57): Show c.1844+2743_1844+2780dupACACACACACACACACACACACACAC ACACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	12/41			chr15	TogoVar
MYO9B_chr19_17070777_17218286	17121463	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	262	0.0038	38	c.840 others(57): Show c.840+18907_840+18908insATATATATATATATATATATATATAT ATATATATATCT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOC_chr1_171630417_171657688	171656429	C C	CAGCACTT others(31): Show CAGCACTTTAGGAGGCTGAGGTGGGTGGATCACCTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	434	0.0023	38	c.-38 others(49): Show c.-3819_-3818insCCTCAGGTGATCCACCCACCTCAGCCTCCTAAAG TGCT	MYOC	ENSG00000034971.17	transcript	ENST00000037502.11	protein_coding		3742		chr1	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp2 HG02109.hp1 others(3): Show HG00423.hp1 HG01981.hp2 HG02109.hp1 NA18948.hp2 NA19010.hp2 NA19085.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0016c0029	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0016c0029t0002	a0001c0001t0001g0126 a0001c0002t0002g0213 a0001c0002t0002g0215 others(3): Show a0001c0001t0001g0126 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0003t0001g0071 a0016c0029t0002g0177	6	240	0.0250	38	c.200 others(57): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA TATATACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	240	0.0042	38	c.200 others(57): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA TATACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0169 a0001c0015t0002g0169	1	240	0.0042	38	c.200 others(57): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA CACACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp1 others(7): Show HG00621.hp2 HG00639.hp1 HG00733.hp1 HG01257.hp2 HG02015.hp1 HG02165.hp2 HG04184.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0051 others(2): Show a0001c0001 a0001c0002 a0001c0051 a0002c0013 a0007c0059	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0051t0001 a0002c0013t0001 a0007c0059t0002	a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0002t0001g0002 a0001c0002t0001g0101 a0001c0002t0002g0214 a0001c0002t0002g0218 a0001c0051t0001g0059 a0002c0013t0001g0105 a0007c0059t0002g0178	10	240	0.0417	38	c.730 others(55): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0006 a0001c0021t0001g0006	1	240	0.0042	38	c.88+ others(53): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18992.hp2 HG00099.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0002c0013t0001 a0001c0001t0001 a0002c0013t0001	a0001c0001t0001g0163 a0002c0013t0001g0102 a0001c0001t0001g0163 a0002c0013t0001g0102	2	240	0.0083	38	c.88+ others(53): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482853	A A	ATATATAA others(31): Show ATATATAAATAATTATATATATATATATATATAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0005 a0003c0007t0001g0005	1	240	0.0042	38	c.-66 others(47): Show c.-660_-659insATTATTTATATATATATATATATATAATTATTTATA TA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		520		chr10	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(31): Show TATATATATATATAATATATATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG00733.hp1 others(11): Show HG00597.hp1 HG00673.hp2 HG00733.hp1 HG01943.hp1 HG01952.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 NA18965.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA19011.hp2 NA19012.hp1	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0006 a0009 a0017 a0061 a0062 a0072	a0001c0002 a0001c0003 a0003c0001 others(7): Show a0001c0002 a0001c0003 a0003c0001 a0005c0005 a0006c0013 a0009c0160 a0017c0173 a0061c0166 a0062c0154 a0072c0143	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0003c0001t0001 a0005c0005t0001 a0006c0013t0001 a0009c0160t0001 a0017c0173t0002 a0061c0166t0001 a0062c0154t0001 a0072c0143t0001	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0003t0001g0188 others(11): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0003t0001g0188 a0001c0003t0001g0251 a0001c0003t0004g0252 a0003c0001t0001g0200 a0005c0005t0001g0240 a0005c0005t0001g0288 a0006c0013t0001g0158 a0009c0160t0001g0352 a0017c0173t0002g0024 a0061c0166t0001g0222 a0062c0154t0001g0106 a0072c0143t0001g0369	14	403	0.0347	38	c.345 others(57): Show c.3454-2564_3454-2563insTATATATATAATATATATATAAATAT ATATTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067354	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01074.hp1 others(9): Show HG00733.hp2 HG01070.hp2 HG01074.hp1 HG01943.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 NA18981.hp2 NA19005.hp2 NA19012.hp2 NA19081.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0018	a0001c0005 a0002c0001 a0002c0018 others(3): Show a0001c0005 a0002c0001 a0002c0018 a0002c0058 a0003c0003 a0018c0032	a0001c0005t0002 a0002c0001t0001 a0002c0018t0001 others(3): Show a0001c0005t0002 a0002c0001t0001 a0002c0018t0001 a0002c0058t0001 a0003c0003t0001 a0018c0032t0001	a0001c0005t0002g0014 a0002c0001t0001g0007 a0002c0001t0001g0114 others(7): Show a0001c0005t0002g0014 a0002c0001t0001g0007 a0002c0001t0001g0114 a0002c0018t0001g0214 a0002c0058t0001g0090 a0003c0003t0001g0257 a0003c0003t0001g0289 a0003c0003t0001g0305 a0003c0003t0001g0307 a0018c0032t0001g0005	12	364	0.0330	38	c.335 others(55): Show c.3356-267_3356-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24113430	T T	TTTCTTTC others(31): Show TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0350 a0006c0006t0001g0350	1	364	0.0028	38	c.-14 others(49): Show c.-1419_-1418insGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1296		chr1	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	322	0.0031	38	c.903 others(53): Show c.903+472_903+473insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40060596	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19030.hp2 NA18947.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0006c0016t0008 a0001c0001t0001 a0006c0016t0008	a0001c0001t0001g0164 a0006c0016t0008g0139 a0001c0001t0001g0164 a0006c0016t0008g0139	2	170	0.0118	38	c.332 others(57): Show c.332+16347_332+16348insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40192315	T T	TATATGAC others(31): Show TATATGACATATATATATATATATATATATATATATGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04115.hp1 HG02615.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0127 a0001c0002t0002g0099 a0001c0002t0002g0127	2	170	0.0118	38	c.166 others(57): Show c.1665+1856_1665+1857insGACATATATATATATATATATATATA TATATGTCATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(31): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA18986.hp2 NA19077.hp2 HG01928.hp2 NA18986.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0004g0002 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0004g0002	3	410	0.0073	38	c.85 others(49): Show c.8589_*8590insACACACACACACACACACACACACACACACACAC ACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698084	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0023 a0004c0004t0020 a0004c0004t0023	a0004c0004t0020g0347 a0004c0004t0023g0348 a0004c0004t0020g0347 a0004c0004t0023g0348	2	410	0.0049	38	c.68+ others(53): Show c.68+1900_68+1901insTATATATATATATATATATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0010 a0006c0010t0010	a0006c0010t0010g0266 a0006c0010t0010g0266	1	410	0.0024	38	c.68+ others(53): Show c.68+1882_68+1883insAAAAAAAATATATATATATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0262 a0002c0005t0006g0262	1	410	0.0024	38	c.68+ others(53): Show c.68+1882_68+1883insAAAAAAAAAATATATATATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0030 a0002c0005t0030	a0002c0005t0030g0250 a0002c0005t0030g0250	1	410	0.0024	38	c.68+ others(53): Show c.68+1882_68+1883insAAAAAAAAAAAATATATATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	410	0.0024	38	c.68+ others(53): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAATATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02129.hp1 NA18978.hp1 HG02083.hp1 HG02129.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0002 a0002c0002t0028	a0002c0002t0002g0088 a0002c0002t0028g0089 a0002c0002t0028g0090 a0002c0002t0002g0088 a0002c0002t0028g0089 a0002c0002t0028g0090	3	410	0.0073	38	c.68+ others(53): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAATATATATATATA TATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(31): Show TATATATATATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	104	0.0096	38	c.505 others(55): Show c.505+8674_505+8675insGTGTATATATATATATATATATGTATAT ATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	104	0.0096	38	c.505 others(55): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT ATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236815	T T	TTCTTCTT others(31): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0022 a0001c0002t0006g0022	1	104	0.0096	38	c.-42 others(59): Show c.-421+47588_-421+47589insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262931	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	104	0.0096	38	c.-42 others(59): Show c.-421+21472_-421+21473insTTATATATATATATATATATATAT ATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	352	0.0028	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01515.hp2 NA18946.hp1 HG01258.hp1 HG01515.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	3	352	0.0085	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18941.hp2 NA18986.hp1 HG01952.hp1 NA18941.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	3	352	0.0085	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18948.hp2 NA18971.hp1 others(1): Show HG00597.hp2 NA18948.hp2 NA18971.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293	4	352	0.0114	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCACACACACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19064.hp1 HG02083.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0339 a0002c0004t0001g0302 a0001c0001t0001g0339 a0002c0004t0001g0302	2	352	0.0057	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCACACACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0312 a0001c0001t0003g0312	1	352	0.0028	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCACACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(31): Show GCATGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02109.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0333 a0001c0001t0008g0332 a0001c0001t0007g0333 a0001c0001t0008g0332	2	352	0.0057	38	c.75+ others(53): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCGCGCACA CACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689172	T T	TATATATG others(31): Show TATATATGTATAATATACACATATATGTATAATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18993.hp1 NA18944.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0071 a0002c0002t0002g0003 a0002c0002t0002g0071	2	352	0.0057	38	c.46 others(49): Show c.4674_*4675insATATATGTATAATATACACATATATGTATAATAT ACAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3809		chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175181717	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATGCATATATATGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01261.hp2 others(2): Show HG01074.hp1 HG01109.hp2 HG01261.hp2 HG02109.hp2 HG02451.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0004 a0002c0005 others(2): Show a0001c0001 a0002c0004 a0002c0005 a0007c0012 a0009c0023	a0001c0001t0002 a0002c0004t0014 a0002c0005t0011 others(2): Show a0001c0001t0002 a0002c0004t0014 a0002c0005t0011 a0007c0012t0029 a0009c0023t0001	a0001c0001t0002g0012 a0002c0004t0014g0058 a0002c0005t0011g0019 others(2): Show a0001c0001t0002g0012 a0002c0004t0014g0058 a0002c0005t0011g0019 a0007c0012t0029g0024 a0009c0023t0001g0037	5	64	0.0781	38	c.546 others(57): Show c.546-52213_546-52212insGTGTGTGTATATGCATATATATGTGT ATATATATGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175181717	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATGCATATATATGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02717.hp1 others(1): Show HG01261.hp1 HG02451.hp1 HG02717.hp1 HG03486.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0013 a0003c0007 others(1): Show a0001c0001 a0001c0013 a0003c0007 a0007c0012	a0001c0001t0037 a0001c0013t0013 a0003c0007t0024 others(1): Show a0001c0001t0037 a0001c0013t0013 a0003c0007t0024 a0007c0012t0003	a0001c0001t0037g0038 a0001c0013t0013g0018 a0003c0007t0024g0049 others(1): Show a0001c0001t0037g0038 a0001c0013t0013g0018 a0003c0007t0024g0049 a0007c0012t0003g0033	4	64	0.0625	38	c.546 others(57): Show c.546-52213_546-52212insGTGTGTGTGTATGCATATATATGTGT ATATATATGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175206244	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0010	a0004c0008t0010g0036 a0004c0008t0010g0036	1	64	0.0156	38	c.546 others(57): Show c.546-27668_546-27667insATATATATATATATATATATATATAT ATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC1_chr19_13113264_13146147	13127400	T T	TTTTTTTT others(31): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	326	0.0031	38	c.-8- others(53): Show c.-8-7800_-8-7799insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTC	NACC1	ENSG00000160877.7	transcript	ENST00000292431.5	protein_coding	1/5			chr19	TogoVar
NALCN_chr13_101048776_101421508	101191339	T T	TGACAGAA others(31): Show TGACAGAAGTCGGTTCTTACTGGACTTTGGTATTCAGTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0063 a0001c0008t0001g0063	1	176	0.0057	38	c.176 others(55): Show c.1764+577_1764+578insTACTGAATACCAAAGTCCAGTAAGAACC GACTTCTGTC	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	128	0.0078	38	c.916 others(57): Show c.916-43308_916-43307insATATATATATATATATATATATATTT TTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19011.hp2 HG02056.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0011 a0001c0001t0015	a0001c0001t0011g0057 a0001c0001t0015g0099 a0001c0001t0011g0057 a0001c0001t0015g0099	2	128	0.0156	38	c.915 others(59): Show c.915+227480_915+227481insCATACATATATATATATATATATA TATATATATATATA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar

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