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
MROH2A_chr2_233773330_233838418	233787827	T T	TTATATAT others(46): Show TTATATATATACATATATTATATATATACATATATATTATATATACATAT ATTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19058.hp1 HG02129.hp2 NA19058.hp1	a0008 a0036 a0008 a0036	a0008c0122 a0036c0095 a0008c0122 a0036c0095	a0008c0122t0001 a0036c0095t0001 a0008c0122t0001 a0036c0095t0001	a0008c0122t0001g0260 a0036c0095t0001g0206 a0008c0122t0001g0260 a0036c0095t0001g0206	2	378	0.0053	53	c.277 others(70): Show c.277-1662_277-1661insTACATATATTATATATATACATATATAT TATATATACATATATTATATATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH9_chr1_170930534_171069765	170933501	A A	AAAAAGAA others(46): Show AAAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0140 a0003c0006t0004g0140	1	226	0.0044	53	c.-21 others(64): Show c.-2124_-2123insAAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding		2032		chr1	TogoVar
MRPL21_chr11_68886278_68908832	68902245	A A	ATTGGAGG others(46): Show ATTGGAGGGGTGGTTTCATGTAGGTAGGTAGAATGGAGTAAGTCCCACTG CTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	395	0.0025	53	c.88+ others(68): Show c.88+1425_88+1477dupAAAGCAGTGGGACTTACTCCATTCTACCTA CCTACATGAAACCACCCCTCCAA	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	1/6			chr11	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(46): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCT CACT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	394	0.0025	53	c.-8+ others(66): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(46): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCGGGGCTCT CACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	394	0.0025	53	c.-8+ others(66): Show c.-8+110_-8+111insAGTGAGAGCCCCGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(46): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18994.hp2 HG02257.hp2 NA18994.hp2	a0001 a0001	a0001c0015 a0001c0025 a0001c0015 a0001c0025	a0001c0015t0001 a0001c0025t0003 a0001c0015t0001 a0001c0025t0003	a0001c0015t0001g0217 a0001c0025t0003g0185 a0001c0015t0001g0217 a0001c0025t0003g0185	2	256	0.0078	53	c.242 others(72): Show c.242-38184_242-38183insGAGGTGGGGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(46): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02572.hp1 others(5): Show HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 a0001c0002 a0001c0003 a0001c0012	a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001	a0001c0002t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 others(5): Show a0001c0002t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0012t0001g0002 a0001c0012t0001g0003	8	256	0.0313	53	c.242 others(72): Show c.242-38184_242-38183insGAGGTGGGGGGGGGGTCAGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767613	G G	GAGCGGGA others(46): Show GAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGCG TGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0047 a0008c0009t0002g0047	1	388	0.0026	53	c.159 others(70): Show c.1596+143_1596+144insAGCGGGAGGAGGGGCACGTGGAGGAGGG GCGAGCGGGAGGAGGGGCGCGTGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(46): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGG GGGC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	388	0.0026	53	c.159 others(70): Show c.1596+253_1596+254insGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGGGGGCGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767828	G G	GGGTGTGG others(46): Show GGGTGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG AGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0216 a0002c0003t0004g0216	1	388	0.0026	53	c.159 others(70): Show c.1596+360_1596+361insTGTGGAGGGGGGCGCGTGGGGGGGCGTG GAGGAGGGGCGCGTGGAGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(46): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG03041.hp2 others(2): Show HG01081.hp1 HG01167.hp2 HG03041.hp2 HG03669.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0005g0042 a0001c0001t0010g0012	5	330	0.0152	53	c.-5+ others(68): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MT1X_chr16_56677470_56689196	56686227	C C	CTACCGCC others(46): Show CTACCGCCAGGAGAAGCACCCATTCCACGCTGACTCTGGGATAGGCTGGG CGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	449	0.0022	53	c.21 others(64): Show c.2178_*2179insTACCGCCAGGAGAAGCACCCATTCCACGCTGACT CTGGGATAGGCTGGGCGTG	MT1X	ENSG00000187193.9	transcript	ENST00000394485.5	protein_coding		2032		chr16	TogoVar
MTA1_chr14_105414827_105475729	105442642	T T	TCAGAACA others(46): Show TCAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAAC ACAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01168.hp1 others(21): Show HG01069.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0008 a0004c0003 others(1): Show a0001c0001 a0003c0008 a0004c0003 a0006c0010	a0001c0001t0001 a0003c0008t0001 a0004c0003t0001 others(1): Show a0001c0001t0001 a0003c0008t0001 a0004c0003t0001 a0006c0010t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(21): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0280 a0003c0008t0001g0012 a0004c0003t0001g0033 a0004c0003t0001g0035 a0006c0010t0001g0127 a0006c0010t0001g0164 a0006c0010t0001g0166	24	304	0.0790	53	c.97- others(68): Show c.97-2728_97-2676dupACACAACAGAACAGACCCCGAGTGTGACTG AGTCCGCTGTGTGCAGGAACACA	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105442831	A A	ACTGTGTG others(46): Show ACTGTGTGCAGGAACACAGCACAACAAAACAGACCCCGAGTGTGACTGAG TCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	304	0.0033	53	c.97- others(68): Show c.97-2567_97-2566insCAACAAAACAGACCCCGAGTGTGACTGAGT CCGCTGTGTGCAGGAACACAGCA	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105442831	A A	ACTGTGTG others(46): Show ACTGTGTGCAGGAACACAGCACAACAGAACAGACCCCGAGTGTGACTGAG TCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(97): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18951.hp2 NA18960.hp2 NA18989.hp1 NA18998.hp2 NA19003.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0011 a0001c0012 others(13): Show a0001c0001 a0001c0011 a0001c0012 a0001c0017 a0001c0019 a0002c0002 a0003c0004 a0003c0006 a0003c0007 a0003c0008 a0003c0009 a0003c0014 a0004c0003 a0005c0005 a0006c0010 a0009c0018	a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 others(14): Show a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 a0001c0017t0001 a0001c0019t0001 a0002c0002t0001 a0003c0004t0001 a0003c0006t0001 a0003c0006t0005 a0003c0007t0001 a0003c0008t0001 a0003c0009t0001 a0003c0014t0001 a0004c0003t0001 a0005c0005t0001 a0006c0010t0001 a0009c0018t0006	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0034 others(91): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0011t0001g0206 a0001c0011t0001g0213 a0001c0012t0001g0248 a0001c0017t0001g0044 a0001c0019t0001g0209 a0002c0002t0001g0045 a0003c0004t0001g0003 a0003c0004t0001g0004 a0003c0004t0001g0042 a0003c0004t0001g0048 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0058 a0003c0006t0001g0002 a0003c0006t0001g0022 a0003c0006t0001g0023 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0005g0021 a0003c0007t0001g0003 a0003c0007t0001g0051 a0003c0007t0001g0052 a0003c0007t0001g0053 a0003c0007t0001g0054 a0003c0007t0001g0055 a0003c0007t0001g0056 a0003c0007t0001g0057 a0003c0007t0001g0059 a0003c0008t0001g0046 a0003c0009t0001g0019 a0003c0009t0001g0020 a0003c0009t0001g0024 a0003c0014t0001g0025 a0004c0003t0001g0033 a0004c0003t0001g0035 a0004c0003t0001g0072 a0004c0003t0001g0216 a0005c0005t0001g0082 a0006c0010t0001g0127 a0006c0010t0001g0164 a0006c0010t0001g0166 a0009c0018t0006g0003	100	304	0.3290	53	c.97- others(68): Show c.97-2567_97-2566insCAACAGAACAGACCCCGAGTGTGACTGAGT CCGCTGTGTGCAGGAACACAGCA	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTERF3_chr8_96234402_96266610	96250623	G G	GAAGAAAG others(46): Show GAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAAGAAGAAAG AAGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	294	0.0034	53	c.677 others(68): Show c.677+282_677+283insTCTTCTTTCTTCTTTCTTCTTCTTTCTTCT TCTTCTTCTTCTTCTTCTTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250696	G G	GGGGAGGG others(46): Show GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGGGGGAGG GGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	294	0.0068	53	c.677 others(68): Show c.677+209_677+210insTCCCCCTCCCCCCCCCTCCCCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(46): Show CATATATACATATATATATATGTATATATATATATGTATATATGTATATA TATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp2 others(31): Show HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02683.hp2 HG02886.hp2 HG02965.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0001t0001g0235 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338	34	348	0.0977	53	c.-81 others(72): Show c.-81+11185_-81+11186insATATATACATATATATATATGTATAT ATATATATGTATATATGTATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(46): Show CATATATATATATATATATATGTATATATATATATGTATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG03453.hp2 HG01891.hp1 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	3	348	0.0086	53	c.-81 others(72): Show c.-81+11185_-81+11186insATATATATATATATATATATGTATAT ATATATATGTATATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(46): Show CATATATATATATATATATGTATATATATATATATATATGTATATATATA TATA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	348	0.0029	53	c.-81 others(72): Show c.-81+11185_-81+11186insATATATATATATATATATGTATATAT ATATATATATATGTATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(46): Show CATATATATATATATATGTATATATATATATATATATGTATATATATATA TATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18957.hp2 NA18970.hp2 others(6): Show NA18944.hp2 NA18957.hp2 NA18970.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19002.hp2 NA19078.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0094 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0259 a0001c0001t0001g0275	9	348	0.0259	53	c.-81 others(72): Show c.-81+11185_-81+11186insATATATATATATATATGTATATATAT ATATATATATGTATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(46): Show CATATATATATATATATGTATATATATATATATATATGTATATATATATA TGTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	348	0.0029	53	c.-81 others(72): Show c.-81+11185_-81+11186insATATATATATATATATGTATATATAT ATATATATATGTATATATATATATGTA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	150994089	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0179 a0001c0001t0006g0160 a0001c0001t0001g0179 a0001c0001t0006g0160	2	226	0.0089	53	c.212 others(74): Show c.2126-15722_2126-15721insAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAG	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC12_chr7_100964565_101023936	100966114	G G	GGGCCCCG others(46): Show GGGCCCCGCCCCTTCGTTCTAGGGCTGAACCTTGCCCCCTTCTTCTGGGG TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0054 a0002c0004t0001g0054	1	342	0.0029	53	c.-35 others(64): Show c.-3509_-3508insGGCCCCGCCCCTTCGTTCTAGGGCTGAACCTTGC CCCCTTCTTCTGGGGTGGA	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding		3450		chr7	TogoVar
MXRA5_chrX_3303565_3351652	3341607	A A	ATATATAT others(46): Show ATATATATAATATATATTATTATTATATATAATATATATAATATATATTA TTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(28): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01123.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02257.hp1 HG02273.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG04204.hp1 NA18968.hp1 NA18977.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19011.hp1 NA19067.hp1 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0014 others(2): Show a0001 a0005 a0014 a0015 a0033	a0001c0001 a0005c0005 a0005c0044 others(3): Show a0001c0001 a0005c0005 a0005c0044 a0014c0015 a0015c0010 a0033c0046	a0001c0001t0001 a0001c0001t0004 a0005c0005t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0005c0005t0002 a0005c0044t0002 a0014c0015t0006 a0015c0010t0001 a0033c0046t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0171 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0171 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0004g0248 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0262 a0005c0005t0002g0177 a0005c0005t0002g0179 a0005c0044t0002g0182 a0014c0015t0006g0172 a0015c0010t0001g0270 a0015c0010t0001g0271 a0033c0046t0001g0269	31	284	0.1092	53	c.188 others(70): Show c.188+2038_188+2039insATAATAATATATATTATATATATTATAT ATAATAATAATATATATTATATATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MYH14_chr19_50198622_50315540	50251520	C C	CATATATA others(46): Show CATATATATACACACATATATATACACACATATATATATACACACATATA TATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0022 a0022	a0022c0122 a0022c0122	a0022c0122t0001 a0022c0122t0001	a0022c0122t0001g0008 a0022c0122t0001g0008	1	298	0.0034	53	c.183 others(70): Show c.1830+832_1830+833insATATATATACACACATATATATACACAC ATATATATATACACACATATATATA	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	15/42			chr19	TogoVar
MYH9_chr22_36276280_36392967	36316953	T T	TTCAAAAT others(46): Show TTCAAAATAAGGCAGTGGTCTATGGCCGTACCACCCTAAATGCACCCGAT CTCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	242	0.0041	53	c.122 others(70): Show c.1228-285_1228-284insTGAGATCGGGTGCATTTAGGGTGGTACG GCCATAGACCACTGCCTTATTTTGA	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYH9_chr22_36276280_36392967	36317000	G G	GATCTCAT others(46): Show GATCTCATCAAAATAAGGCAGCAGTCTACGGCCATACCACCCTAAACGCG CCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02148.hp2 HG02486.hp2 others(10): Show HG02055.hp2 HG02148.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0007t0004	a0001c0001t0003g0022 a0001c0001t0004g0008 a0001c0001t0004g0021 others(10): Show a0001c0001t0003g0022 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0205 a0001c0001t0013g0025 a0001c0007t0004g0070	13	242	0.0537	53	c.122 others(70): Show c.1228-384_1228-332dupTGGGCGCGTTTAGGGTGGTATGGCCGTA GACTGCTGCCTTATTTTGATGAGAT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYH9_chr22_36276280_36392967	36317033	A A	ATACCACC others(46): Show ATACCACCCTAAACGCGCCCAATCTCATCAAAATAAGGCAGTGGTCTATG GCCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0005 a0001c0008t0006g0005	1	242	0.0041	53	c.122 others(70): Show c.1228-365_1228-364insCGGCCATAGACCACTGCCTTATTTTGAT GAGATTGGGCGCGTTTAGGGTGGTA	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYH9_chr22_36276280_36392967	36317053	A A	AATCTCAT others(46): Show AATCTCATCAAAATAAGGCAGCAGTCTACGGCCATACCACCCTAAACGCG CCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp2 NA18960.hp2 NA18964.hp1 NA18985.hp1 NA19030.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0002c0002 a0003c0026 a0005c0022 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0017 a0001c0003t0018 a0001c0004t0008 a0001c0006t0001 a0001c0006t0002 a0001c0008t0006 a0001c0010t0002 a0001c0020t0004 a0001c0023t0008 a0001c0024t0003 a0001c0025t0006 a0002c0002t0001 a0003c0026t0002 a0005c0022t0008 a0010c0019t0002	a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0211 others(108): Show a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0203 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0109 a0001c0001t0003g0235 a0001c0001t0004g0057 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0099 a0001c0001t0004g0220 a0001c0001t0005g0024 a0001c0001t0005g0028 a0001c0001t0005g0114 a0001c0001t0005g0117 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0005g0161 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0217 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0079 a0001c0003t0001g0072 a0001c0003t0001g0092 a0001c0003t0001g0125 a0001c0003t0002g0126 a0001c0003t0003g0001 a0001c0003t0003g0017 a0001c0003t0003g0020 a0001c0003t0003g0042 a0001c0003t0003g0108 a0001c0003t0003g0113 a0001c0003t0003g0155 a0001c0003t0003g0179 a0001c0003t0003g0191 a0001c0003t0003g0199 a0001c0003t0003g0209 a0001c0003t0004g0166 a0001c0003t0010g0106 a0001c0003t0017g0157 a0001c0003t0018g0242 a0001c0004t0008g0124 a0001c0006t0001g0049 a0001c0006t0002g0041 a0001c0006t0002g0094 a0001c0006t0002g0175 a0001c0008t0006g0160 a0001c0010t0002g0077 a0001c0020t0004g0142 a0001c0023t0008g0174 a0001c0024t0003g0192 a0001c0025t0006g0206 a0002c0002t0001g0048 a0002c0002t0001g0089 a0002c0002t0001g0105 a0002c0002t0001g0119 a0002c0002t0001g0187 a0003c0026t0002g0194 a0005c0022t0008g0010 a0010c0019t0002g0080	111	242	0.4587	53	c.122 others(70): Show c.1228-437_1228-385dupCGGGCGCGTTTAGGGTGGTATGGCCGTA GACTGCTGCCTTATTTTGATGAGAT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYNN_chr3_169768396_169794716	169770455	T T	TATTATAT others(46): Show TATTATATGTATAAATATAAATATATAAAAATTTATATTTATATTTATTA TATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	350	0.0029	53	c.-30 others(64): Show c.-3039_-3038insATTATATGTATAAATATAAATATATAAAAATTTA TATTTATATTTATTATATG	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2940		chr3	TogoVar
MYO1B_chr2_191240404_191430386	191364844	C C	CTGGTGCT others(46): Show CTGGTGCTAGCTGGTTTAAGAGAAAGAGAACAATCAAGGGTGATTTAATG TTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 NA18522.hp2 HG02486.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0166 a0001c0009t0001g0167 a0001c0009t0001g0168 a0001c0009t0001g0166 a0001c0009t0001g0167 a0001c0009t0001g0168	3	170	0.0177	53	c.103 others(70): Show c.1032+589_1032+590insAAAGAGAACAATCAAGGGTGATTTAATG TTTTTGGTGCTAGCTGGTTTAAGAG	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191364844	C C	CTGGTGCT others(46): Show CTGGTGCTAGCTGGTTTAAGAGGAAGAGAACAATCAAGGGTGATTTAATG TTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0003 a0001c0008t0001g0002 a0001c0008t0001g0003	2	170	0.0118	53	c.103 others(70): Show c.1032+572_1032+624dupTGCTAGCTGGTTTAAGAGGAAGAGAACA ATCAAGGGTGATTTAATGTTTTTGG	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5C_chr15_52187322_52300804	52232232	A A	AGGAAGGA others(46): Show AGGAAGGAGAGAAGGAAGGAAGGAGAGAAAGAAGGAAGGAGAGAAAGAAG GAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0027 a0013c0019t0028 a0013c0019t0027 a0013c0019t0028	a0013c0019t0027g0007 a0013c0019t0028g0008 a0013c0019t0027g0007 a0013c0019t0028g0008	2	360	0.0056	53	c.302 others(70): Show c.3026+389_3026+390insCTTCCTTCTTTCTCTCCTTCCTTCTTTC TCTCCTTCCTTCCTTCTCTCCTTCC	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	24/40			chr15	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AGAAAGAA others(46): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0120 a0003c0007t0001g0120	1	240	0.0042	53	c.88+ others(68): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYRFL_chr12_69820227_69964097	69877026	T T	TCTTTCTT others(46): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0318 a0007c0010t0003g0318	1	322	0.0031	53	c.138 others(70): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24			chr12	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0080 a0002c0005t0080	a0002c0005t0080g0248 a0002c0005t0080g0248	1	410	0.0024	53	c.68+ others(68): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0025 a0006c0007t0025	a0006c0007t0025g0045 a0006c0007t0025g0045	1	410	0.0024	53	c.68+ others(68): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1994318	C C	CGCCCTGC others(46): Show CGCCCTGCTCCCTCCTCCCAGCGAGTCCTCCTGGGGGGCTCAGCCCTGGT TCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp2 NA18945.hp1 others(3): Show HG00438.hp2 HG02135.hp2 NA18945.hp1 NA19009.hp1 NA19060.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0020 a0001c0001 a0001c0006 a0001c0020	a0001c0001t0001 a0001c0006t0001 a0001c0020t0005 a0001c0001t0001 a0001c0006t0001 a0001c0020t0005	a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0006t0001g0024 a0001c0020t0005g0081	6	104	0.0577	53	c.-1+ others(68): Show c.-1+2820_-1+2872dupCTGAACCAGGGCTGAGCCCCCCAGGAGGAC TCGCTGGGAGGAGGGAGCAGGGC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	5/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2035289	C C	CACAATCT others(46): Show CACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0091 a0001c0008t0001g0091	1	104	0.0096	53	c.-15 others(74): Show c.-158+18636_-158+18688dupTGGGGAGAAGTTAGGAGCTCTCTT CTGCACCCGCATTGGAGGGTGGAGATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(46): Show ATATATATATATATATATATAACCTGTGATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG06807.hp1 HG02897.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0013 a0001c0005t0024 a0001c0004t0013 a0001c0005t0024	a0001c0004t0013g0044 a0001c0005t0024g0063 a0001c0004t0013g0044 a0001c0005t0024g0063	2	104	0.0192	53	c.-42 others(74): Show c.-421+21471_-421+21472insATATATATATATATATATATATAT ATCACAGGTTATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(46): Show ATATATATATATATATATATATATAACCTGTGATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0103 a0001c0005t0026g0103	1	104	0.0096	53	c.-42 others(74): Show c.-421+21471_-421+21472insATATATATATATATATATATATCA CAGGTTATATATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262932	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATAACCTGTGAGATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	104	0.0096	53	c.-42 others(74): Show c.-421+21471_-421+21472insATATATATATATATATCTCACAGG TTATATATATATATATATATATATATATA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64174274	T T	TCTCCTGC others(46): Show TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0217 a0001c0003t0007g0217	1	223	0.0045	53	c.-99 others(70): Show c.-99+9538_-99+9590dupCCTGCAGCATCTTTCCCTGTAGTTGTGT CCATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174324	T T	TCTCCTCC others(46): Show TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01978.hp2 HG02129.hp2 others(6): Show HG01258.hp1 HG01978.hp2 HG02129.hp2 HG02602.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 NA18971.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0004c0009	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0001c0004t0004 a0001c0006t0001 a0004c0009t0001	a0001c0001t0001g0038 a0001c0001t0016g0039 a0001c0002t0002g0032 others(6): Show a0001c0001t0001g0038 a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0006t0001g0036 a0004c0009t0001g0041	9	223	0.0404	53	c.-99 others(70): Show c.-99+9538_-99+9590dupCCTGCAGCATCTTTCCCTGTAGTTGTGT CCATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174774	T T	TCTCCTGC others(46): Show TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCG TCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	223	0.0045	53	c.-99 others(72): Show c.-99+10083_-99+10084insGTCTCCTCCTGCAGCATCTTTCCCTG TAGTTGTGTCCATTTCCCCTCCCTGGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175334	T T	TAGCATCT others(46): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG03516.hp1 HG02723.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0188 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0188	3	223	0.0135	53	c.-99 others(72): Show c.-99+10606_-99+10607insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCGTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175345	C C	CCTGTAGT others(46): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	223	0.0045	53	c.-99 others(72): Show c.-99+10606_-99+10607insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175587	T T	TAGCATCT others(46): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTC CTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01123.hp1 others(8): Show HG00642.hp2 HG00673.hp1 HG01123.hp1 HG01255.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG02129.hp1 HG02886.hp1 HG04228.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0013g0157 a0001c0001t0016g0067 a0001c0002t0002g0088	11	223	0.0493	53	c.-99 others(72): Show c.-99+10859_-99+10860insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCGTCTCCTCCTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175698	C C	CCTGTAGT others(46): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03453.hp1 others(2): Show HG02965.hp2 HG02976.hp1 HG03453.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0142 a0001c0001t0003g0115 a0001c0002t0002g0079 others(2): Show a0001c0001t0002g0142 a0001c0001t0003g0115 a0001c0002t0002g0079 a0001c0002t0002g0085 a0001c0002t0002g0101	5	223	0.0224	53	c.-99 others(72): Show c.-99+10959_-99+10960insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar

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