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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MTR_chr1_236790292_236908981	236844453	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19002.hp1 HG00438.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0153 a0001c0002t0001g0154	2	372	0.0054	-24	c.151 others(43): Show c.1516-5864_1516-5841delGTGTGTGTGTGTGTGTGTGTGTGT		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236890132	TTGCCAAG others(17): Show TTGCCAAGTTTCCCACGGGGGGGCG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0175 a0001c0002t0056g0175	1	372	0.0027	-24	c.300 others(41): Show c.3007+801_3007+824delAAGTTTCCCACGGGGGGGCGTGCC		MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	28/32					INFO_REALIGN_3_PRIME	chr1	TogoVar
MTSS2_chr16_70656204_70691053	70660970	CCTCCCTC others(17): Show CCTCCCTCTCTCCCTCCCTCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01433.hp2 HG01515.hp1 others(4): Show HG01192.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02148.hp1 HG02683.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0009 a0001c0001 a0013c0009	a0001c0001t0007 a0001c0001t0050 a0001c0001t0074 others(1): Show a0001c0001t0007 a0001c0001t0050 a0001c0001t0074 a0013c0009t0056	a0001c0001t0007g0005 a0001c0001t0007g0095 a0001c0001t0050g0140 others(2): Show a0001c0001t0007g0005 a0001c0001t0007g0095 a0001c0001t0050g0140 a0001c0001t0074g0148 a0013c0009t0056g0231	7	398	0.0176	-24	c.26 others(35): Show c.2683_*2706delAGAGGGAGGGAGGGAGAGAGGGAG		MTSS2	ENSG00000132613.16	transcript	ENST00000338779.11	protein_coding					233		chr16	TogoVar
MTUS2_chr13_28815339_29510947	28816206	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02809.hp2 others(4): Show HG02145.hp2 HG02258.hp2 HG02809.hp2 HG03486.hp2 NA18944.hp1 NA19084.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0015	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0008 a0015c0017	a0001c0001t0011 a0002c0002t0003 a0002c0002t0004 others(4): Show a0001c0001t0011 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0003c0003t0003 a0004c0008t0001 a0015c0017t0001	a0001c0001t0011g0010 a0002c0002t0003g0012 a0002c0002t0004g0008 others(4): Show a0001c0001t0011g0010 a0002c0002t0003g0012 a0002c0002t0004g0008 a0002c0002t0013g0011 a0003c0003t0003g0009 a0004c0008t0001g0007 a0015c0017t0001g0006	7	92	0.0761	-24	c.-47 others(35): Show c.-4720_-4697delATATATATATATATATATATATAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding					4132		chr13	TogoVar
MTUS2_chr13_28815339_29510947	28910855	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	92	0.0109	-24	c.-24 others(45): Show c.-243+71020_-243+71043delTTTTTTTTTTTTTTTTTTTTTTTT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29073850	AGTGGTTC others(17): Show AGTGGTTCCCTTGGAGATCTTTCAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(37): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp2 HG00735.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04228.hp2 HG06807.hp2 NA18944.hp2 NA18988.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0014	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0011 a0003c0003 a0004c0019 a0005c0007 a0006c0006 a0007c0004 a0008c0023 a0010c0021 a0011c0015 a0012c0013 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0005t0014 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0024 a0002c0002t0026 a0002c0002t0027 a0002c0011t0023 a0003c0003t0008 a0004c0019t0001 a0005c0007t0010 a0006c0006t0005 a0007c0004t0006 a0008c0023t0022 a0010c0021t0008 a0011c0015t0004 a0012c0013t0002 a0014c0018t0015	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0054 others(37): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0002g0077 a0001c0001t0003g0038 a0001c0001t0003g0091 a0001c0001t0004g0046 a0001c0001t0010g0090 a0001c0001t0013g0073 a0001c0001t0017g0025 a0001c0001t0021g0016 a0001c0005t0014g0026 a0002c0002t0002g0057 a0002c0002t0003g0012 a0002c0002t0003g0035 a0002c0002t0003g0066 a0002c0002t0004g0008 a0002c0002t0004g0039 a0002c0002t0005g0019 a0002c0002t0006g0071 a0002c0002t0008g0092 a0002c0002t0009g0067 a0002c0002t0011g0064 a0002c0002t0013g0011 a0002c0002t0024g0059 a0002c0002t0026g0036 a0002c0002t0027g0050 a0002c0011t0023g0041 a0003c0003t0008g0069 a0004c0019t0001g0015 a0005c0007t0010g0081 a0006c0006t0005g0024 a0007c0004t0006g0042 a0008c0023t0022g0053 a0010c0021t0008g0051 a0011c0015t0004g0002 a0012c0013t0002g0055 a0014c0018t0015g0027	40	92	0.4348	-24	c.244 others(45): Show c.2447-26920_2447-26897delGGTTCCCTTGGAGATCTTTCAGGT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29389344	CGTGTGTG others(17): Show CGTGTGTGTATATATGTATGCACGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0018 a0001c0005t0003g0018	1	92	0.0109	-24	c.311 others(45): Show c.3117+29878_3117+29901delGTATATATGTATGCACGTGTGTGT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29389388	CGTGTGTG others(17): Show CGTGTGTGTATATATGTATACACGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01891.hp1 others(14): Show HG00280.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02615.hp2 HG02809.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG04228.hp2 NA18944.hp2 NA18983.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0010 a0011 a0014	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0005c0007 a0010c0021 a0011c0015 a0014c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0003c0003t0003 a0003c0003t0008 a0003c0009t0020 a0005c0007t0018 a0010c0021t0008 a0011c0015t0004 a0014c0018t0015	a0001c0001t0002g0048 a0001c0001t0005g0031 a0001c0001t0021g0016 others(14): Show a0001c0001t0002g0048 a0001c0001t0005g0031 a0001c0001t0021g0016 a0002c0002t0001g0070 a0002c0002t0002g0057 a0002c0002t0005g0019 a0002c0002t0024g0059 a0002c0002t0025g0079 a0002c0002t0027g0050 a0002c0002t0028g0062 a0003c0003t0003g0009 a0003c0003t0008g0069 a0003c0009t0020g0052 a0005c0007t0018g0028 a0010c0021t0008g0051 a0011c0015t0004g0002 a0014c0018t0015g0027	17	92	0.1848	-24	c.311 others(45): Show c.3117+29926_3117+29949delATATGTATACACGTGTGTGTGTAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29389415	GTGTGTAT others(17): Show GTGTGTATGTATACACGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG02970.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0004 a0002c0002t0006	a0002c0002t0004g0039 a0002c0002t0006g0071 a0002c0002t0004g0039 a0002c0002t0006g0071	2	92	0.0217	-24	c.311 others(45): Show c.3117+29974_3117+29997delGTATACACGTGTGTGTATGTGTAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC13_chr3_124900442_124939751	124907184	TTTTTGTA others(17): Show TTTTTGTAAAAATGGGGTCTCATTA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	452	0.0022	-24	c.1- others(37): Show c.1-466_*1-443delTAATGAGACCCCATTTTTACAAAA		MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	11/11						chr3	TogoVar
MUC13_chr3_124900442_124939751	124930534	TATATGAA others(17): Show TATATGAAGACATCTGTGCAGTAGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	452	0.0022	-24	c.53- others(39): Show c.53-2565_53-2542delTCTACTGCACAGATGTCTTCATAT		MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	1/11						chr3	TogoVar
MUC15_chr11_26554032_26577263	26564712	CACACACA others(17): Show CACACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0244 a0002c0001t0004g0244	1	466	0.0022	-24	c.775 others(39): Show c.775+429_775+452delATATGTGTGTGTGTGTGTGTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564720	CACACACA others(17): Show CACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0251 a0002c0001t0005g0251	1	466	0.0022	-24	c.775 others(39): Show c.775+421_775+444delATATATATATATGTGTGTGTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564728	CACACATA others(17): Show CACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp1 HG02647.hp1 others(3): Show HG01496.hp2 HG02280.hp1 HG02647.hp1 HG03041.hp1 HG03209.hp2 HG03579.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0002 a0009c0014 a0011c0013 a0001c0002 a0009c0014 a0011c0013	a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 others(2): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0009c0014t0001 a0011c0013t0001	a0001c0002t0005g0227 a0001c0002t0006g0202 a0001c0002t0012g0228 others(3): Show a0001c0002t0005g0227 a0001c0002t0006g0202 a0001c0002t0012g0228 a0001c0002t0012g0265 a0009c0014t0001g0230 a0011c0013t0001g0181	6	466	0.0129	-24	c.775 others(39): Show c.775+413_775+436delATATATATATATATATATATGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC4_chr3_195741771_195816929	195742696	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0105 a0105	a0105c0124 a0105c0124	a0105c0124t0003 a0105c0124t0003	a0105c0124t0003g0116 a0105c0124t0003g0116	1	249	0.0040	-24	c.44 others(35): Show c.4456_*4479delAAAAAAAAAAAAAAAAAAAAAAAA		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding					4074		chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1155722	CTCATTCA others(17): Show CTCATTCATTCACCCATTCACTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0077 a0003c0014t0001g0077	1	292	0.0034	-24	c.-22 others(35): Show c.-2277_-2254delTCATTCATTCACCCATTCACTCAT		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding					2230		chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1171060	CCACTCAC others(17): Show CCACTCACCGACTCACCCATTCACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01099.hp2 others(5): Show HG00099.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 NA20805.hp1	a0009 a0016 a0027 others(2): Show a0009 a0016 a0027 a0029 a0031	a0009c0020 a0016c0029 a0027c0039 others(2): Show a0009c0020 a0016c0029 a0027c0039 a0029c0081 a0031c0079	a0009c0020t0002 a0016c0029t0002 a0027c0039t0002 others(2): Show a0009c0020t0002 a0016c0029t0002 a0027c0039t0002 a0029c0081t0002 a0031c0079t0002	a0009c0020t0002g0008 a0016c0029t0002g0017 a0016c0029t0002g0046 others(3): Show a0009c0020t0002g0008 a0016c0029t0002g0017 a0016c0029t0002g0046 a0027c0039t0002g0047 a0029c0081t0002g0044 a0031c0079t0002g0017	8	292	0.0274	-24	c.187 others(43): Show c.1871-1354_1871-1331delCCCATTCACACACTCACCGACTCA		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1175469	TCACACCC others(17): Show TCACACCCACTCATGCACATGCTCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01099.hp2 others(9): Show HG00099.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02109.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2 NA20805.hp1	a0009 a0010 a0016 others(4): Show a0009 a0010 a0016 a0027 a0028 a0029 a0031	a0009c0020 a0010c0019 a0016c0029 others(4): Show a0009c0020 a0010c0019 a0016c0029 a0027c0039 a0028c0082 a0029c0081 a0031c0079	a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 others(4): Show a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 a0027c0039t0002 a0028c0082t0003 a0029c0081t0002 a0031c0079t0002	a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(5): Show a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 a0016c0029t0002g0046 a0027c0039t0002g0047 a0028c0082t0003g0045 a0029c0081t0002g0044 a0031c0079t0002g0017	12	292	0.0411	-24	c.240 others(41): Show c.2401+218_2401+241delTGCTCACACACCCACTCATGCACA		MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	19/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1188258	GACCAGCA others(17): Show GACCAGCACAACCTCTGCTCCTACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02809.hp2 HG02809.hp2	a0042 a0042	a0042c0091 a0042c0091	a0042c0091t0002 a0042c0091t0002	a0042c0091t0002g0085 a0042c0091t0002g0085	1	292	0.0034	-24	c.101 others(35): Show c.10134_10157delTACAACCAGCACAACCTCTGCTCC	p.Thr others(15): Show p.Thr3379_Pro3386del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	10181/17448	10134/16965	3378/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1190500	CCCAGCAC others(17): Show CCCAGCACAACCTCTGCCCCTACAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00733.hp2 HG01099.hp2 others(10): Show HG00099.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 NA20805.hp1	a0009 a0010 a0016 others(5): Show a0009 a0010 a0016 a0027 a0029 a0031 a0042 a0072	a0009c0020 a0010c0019 a0016c0029 others(5): Show a0009c0020 a0010c0019 a0016c0029 a0027c0039 a0029c0081 a0031c0079 a0042c0091 a0072c0070	a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 others(5): Show a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 a0027c0039t0002 a0029c0081t0002 a0031c0079t0002 a0042c0091t0002 a0072c0070t0002	a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(6): Show a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 a0016c0029t0002g0046 a0027c0039t0002g0047 a0029c0081t0002g0044 a0031c0079t0002g0017 a0042c0091t0002g0085 a0072c0070t0002g0146	13	292	0.0445	-24	c.123 others(35): Show c.12387_12410delAACCTCTGCCCCTACAACCAGCAC	p.Thr others(15): Show p.Thr4130_Thr4137del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	12434/17448	12387/16965	4129/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1191316	ACCAGAAC others(17): Show ACCAGAACAACCTCTGCCTCTACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02698.hp1 HG02698.hp1	a0054 a0054	a0054c0096 a0054c0096	a0054c0096t0001 a0054c0096t0001	a0054c0096t0001g0112 a0054c0096t0001g0112	1	292	0.0034	-24	c.131 others(35): Show c.13176_13199delAACAACCTCTGCCTCTACAGCCAG	p.Arg others(15): Show p.Arg4392_Ala4399del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	13223/17448	13176/16965	4392/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1191628	ACCAGCAC others(17): Show ACCAGCACAACCTCTGCCTCTACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00733.hp2 others(11): Show HG00099.hp1 HG00099.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 NA20805.hp1	a0009 a0010 a0016 others(6): Show a0009 a0010 a0016 a0027 a0029 a0031 a0042 a0068 a0072	a0009c0020 a0010c0019 a0016c0029 others(6): Show a0009c0020 a0010c0019 a0016c0029 a0027c0039 a0029c0081 a0031c0079 a0042c0091 a0068c0103 a0072c0070	a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 others(6): Show a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 a0027c0039t0002 a0029c0081t0002 a0031c0079t0002 a0042c0091t0002 a0068c0103t0001 a0072c0070t0002	a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(7): Show a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 a0016c0029t0002g0046 a0027c0039t0002g0047 a0029c0081t0002g0044 a0031c0079t0002g0017 a0042c0091t0002g0085 a0068c0103t0001g0225 a0072c0070t0002g0146	14	292	0.0480	-24	c.134 others(35): Show c.13499_13522delCCTCTACAGCCAGCACAACCTCTG	p.Ala others(15): Show p.Ala4500_Ser4507del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	13546/17448	13499/16965	4500/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5B_chr11_1218066_1267172	1248676	AACACCCT others(17): Show AACACCCTCCTCTAGCACACAGACC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18974.hp1 NA18974.hp1	a0092 a0092	a0092c0080 a0092c0080	a0092c0080t0001 a0092c0080t0001	a0092c0080t0001g0062 a0092c0080t0001g0062	1	350	0.0029	-24	c.117 others(35): Show c.11798_11821delCACCCTCCTCTAGCACACAGACCA	p.Thr others(15): Show p.Thr3933_Thr3940del	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	11856/17911	11798/17289	3933/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUCL1_chr12_54849516_54863387	54856819	AACCACTG others(17): Show AACCACTGCAACCACTGCTGCTCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0011 a0004c0007t0001g0011	1	430	0.0023	-24	c.165 others(31): Show c.165_188delTGCTGCTCCTACCACTGCAACCAC	p.Ala others(11): Show p.Ala56_Thr63del	MUCL1	ENSG00000172551.12	transcript	ENST00000308796.11	protein_coding	3/4	232/485	165/273	55/90		INFO_REALIGN_3_PRIME	chr12	TogoVar
MVP_chr16_29815462_29853021	29843530	AAGGGAGG others(17): Show AAGGGAGGAAGGGAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0144 a0001c0001t0001g0157	2	230	0.0087	-24	c.163 others(41): Show c.1635-955_1635-932delAAGGGAGGAAGGGAGGGAGGGAGG		MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
MX1_chr21_41421239_41464212	41448930	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(101): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18990.hp2 NA18995.hp1 NA19003.hp1 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19076.hp2 NA19082.hp1 NA19083.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0022 a0001c0032 others(4): Show a0001c0001 a0001c0022 a0001c0032 a0002c0005 a0002c0011 a0002c0033 a0010c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0022t0001 a0001c0032t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0010 a0002c0011t0001 a0002c0033t0001 a0010c0029t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0034 others(69): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0279 a0001c0001t0002g0002 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0186 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0003g0162 a0001c0001t0004g0047 a0001c0001t0004g0230 a0001c0001t0004g0237 a0001c0001t0011g0002 a0001c0001t0011g0236 a0001c0001t0011g0239 a0001c0022t0001g0111 a0001c0032t0001g0127 a0002c0005t0001g0007 a0002c0005t0001g0009 a0002c0005t0001g0014 a0002c0005t0001g0021 a0002c0005t0001g0026 a0002c0005t0001g0029 a0002c0005t0001g0095 a0002c0005t0001g0097 a0002c0005t0001g0098 a0002c0005t0001g0102 a0002c0005t0001g0104 a0002c0005t0001g0106 a0002c0005t0001g0131 a0002c0005t0001g0137 a0002c0005t0003g0138 a0002c0005t0010g0028 a0002c0011t0001g0067 a0002c0011t0001g0069 a0002c0011t0001g0119 a0002c0011t0001g0208 a0002c0033t0001g0096 a0010c0029t0001g0282	104	408	0.2549	-24	c.127 others(41): Show c.1274-181_1274-158delGTGTGTGTGTGTGTGTGTGTGTGT		MX1	ENSG00000157601.15	transcript	ENST00000398598.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr21	TogoVar
MXRA5_chrX_3303565_3351652	3307039	CTATCTAT others(17): Show CTATCTATGTATCTATGTATCTATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02165.hp1 HG02165.hp2 others(3): Show HG01074.hp1 HG02165.hp1 HG02165.hp2 HG03516.hp2 HG04199.hp1 NA21309.hp1	a0003 a0029 a0003 a0029	a0003c0003 a0029c0035 a0003c0003 a0029c0035	a0003c0003t0001 a0029c0035t0001 a0003c0003t0001 a0029c0035t0001	a0003c0003t0001g0001 a0003c0003t0001g0194 a0003c0003t0001g0203 others(3): Show a0003c0003t0001g0001 a0003c0003t0001g0194 a0003c0003t0001g0203 a0003c0003t0001g0217 a0003c0003t0001g0218 a0029c0035t0001g0127	6	284	0.0211	-24	c.26 others(35): Show c.2653_*2676delCATAGATACATAGATACATAGATA		MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding					1525		chrX	TogoVar
MYBL1_chr8_66557175_66618218	66602713	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02559.hp2 HG01070.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0017 a0001c0001t0001g0020	2	238	0.0084	-24	c.21- others(37): Show c.21-214_21-191delAAAATATATATATATATATATATA		MYBL1	ENSG00000185697.17	transcript	ENST00000522677.8	protein_coding	1/15						chr8	TogoVar
MYBPC1_chr12_101589971_101691028	101591771	TCTTCTCC others(17): Show TCTTCTCCTTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	360	0.0028	-24	c.-32 others(35): Show c.-3299_-3276delCTTCTCCTTCTCCTTCTCCTTCTC		MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding					3199		chr12	TogoVar
MYBPC1_chr12_101589971_101691028	101591831	CCTTCTCC others(17): Show CCTTCTCCTTCTCCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03540.hp1 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0005 a0001c0007t0008 a0001c0004t0005 a0001c0007t0008	a0001c0004t0005g0170 a0001c0007t0008g0043 a0001c0004t0005g0170 a0001c0007t0008g0043	2	360	0.0056	-24	c.-32 others(35): Show c.-3239_-3216delCTTCTCCTTCTCCTTCTTCTTCTT		MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding					3139		chr12	TogoVar
MYBPC2_chr19_50427892_50471321	50452488	GTATGTAT others(17): Show GTATGTATGTATGTATGTATGTATC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02071.hp1 HG02074.hp2 others(33): Show HG01975.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02523.hp1 NA18939.hp2 NA18941.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2	a0002 a0003 a0012 others(4): Show a0002 a0003 a0012 a0017 a0021 a0031 a0035	a0002c0003 a0003c0004 a0012c0016 others(4): Show a0002c0003 a0003c0004 a0012c0016 a0017c0048 a0021c0036 a0031c0028 a0035c0025	a0002c0003t0001 a0003c0004t0001 a0012c0016t0001 others(4): Show a0002c0003t0001 a0003c0004t0001 a0012c0016t0001 a0017c0048t0001 a0021c0036t0001 a0031c0028t0001 a0035c0025t0001	a0002c0003t0001g0262 a0002c0003t0001g0274 a0002c0003t0001g0287 others(29): Show a0002c0003t0001g0262 a0002c0003t0001g0274 a0002c0003t0001g0287 a0003c0004t0001g0016 a0003c0004t0001g0017 a0003c0004t0001g0021 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0188 a0003c0004t0001g0192 a0003c0004t0001g0236 a0003c0004t0001g0241 a0003c0004t0001g0245 a0003c0004t0001g0248 a0003c0004t0001g0251 a0003c0004t0001g0257 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0264 a0003c0004t0001g0270 a0003c0004t0001g0285 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0293 a0003c0004t0001g0294 a0012c0016t0001g0025 a0012c0016t0001g0277 a0017c0048t0001g0242 a0021c0036t0001g0263 a0031c0028t0001g0278 a0035c0025t0001g0320	36	396	0.0909	-24	c.174 others(41): Show c.1749+489_1749+512delGTATGTATGTATGTATGTATCTAT		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	16/27					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBPC2_chr19_50427892_50471321	50452492	GTATGTAT others(17): Show GTATGTATGTATGTATGTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(85): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18991.hp1 NA19004.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19077.hp2 NA19084.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0009 a0014 a0015 a0020 a0022 a0030 a0032	a0001c0001 a0002c0003 a0002c0024 others(12): Show a0001c0001 a0002c0003 a0002c0024 a0002c0034 a0003c0004 a0004c0006 a0004c0023 a0008c0009 a0009c0011 a0014c0015 a0015c0020 a0020c0033 a0022c0035 a0030c0030 a0032c0045	a0001c0001t0001 a0002c0003t0001 a0002c0024t0001 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0024t0001 a0002c0034t0001 a0003c0004t0001 a0004c0006t0001 a0004c0023t0001 a0008c0009t0001 a0009c0011t0001 a0014c0015t0001 a0015c0020t0001 a0020c0033t0001 a0022c0035t0001 a0030c0030t0001 a0032c0045t0001	a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0205 others(65): Show a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0205 a0002c0003t0001g0001 a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0080 a0002c0003t0001g0083 a0002c0003t0001g0183 a0002c0003t0001g0234 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0247 a0002c0003t0001g0256 a0002c0003t0001g0261 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0271 a0002c0003t0001g0273 a0002c0003t0001g0275 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0292 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0348 a0002c0024t0001g0282 a0002c0034t0001g0286 a0003c0004t0001g0020 a0003c0004t0001g0022 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0220 a0003c0004t0001g0222 a0003c0004t0001g0225 a0003c0004t0001g0238 a0003c0004t0001g0246 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0272 a0004c0006t0001g0002 a0004c0006t0001g0177 a0004c0023t0001g0002 a0008c0009t0001g0027 a0008c0009t0001g0184 a0008c0009t0001g0233 a0009c0011t0001g0005 a0009c0011t0001g0041 a0014c0015t0001g0038 a0014c0015t0001g0046 a0015c0020t0001g0042 a0015c0020t0001g0043 a0020c0033t0001g0235 a0022c0035t0001g0228 a0030c0030t0001g0020 a0032c0045t0001g0203	88	396	0.2222	-24	c.174 others(41): Show c.1749+493_1749+516delGTATGTATGTATGTATCTATCTAT		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	16/27					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYCBPAP_chr17_50503439_50536501	50510491	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0182 a0009c0011t0001g0182	1	376	0.0027	-24	c.76+ others(39): Show c.76+1743_76+1766delGTGTGTGTATATATATATATATAT		MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50510497	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0001 a0024c0025t0001	a0024c0025t0001g0080 a0024c0025t0001g0080	1	376	0.0027	-24	c.76+ others(39): Show c.76+1749_76+1772delGTATATATATATATATATATATAT		MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr17	TogoVar
MYH10_chr17_8469224_8635725	8511045	TATATATA others(17): Show TATATATATATATATACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG02055.hp2 HG03209.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0008 a0001c0022t0008 a0001c0001t0008 a0001c0022t0008	a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0105 others(1): Show a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0105 a0001c0022t0008g0051	4	274	0.0146	-24	c.295 others(43): Show c.2953-1120_2953-1097delGTATGTGTGTATATATATATATAT		MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	24/42						chr17	TogoVar
MYH13_chr17_10295865_10378006	10300405	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0326 a0004c0010t0001g0326	1	382	0.0026	-24	c.52 others(33): Show c.522_*545delTTTTTTTTTTTTTTTTTTTTTTTT		MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding					459		chr17	TogoVar
MYH13_chr17_10295865_10378006	10326981	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG02723.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0030 a0001c0015 a0002c0030	a0001c0015t0001 a0002c0030t0001 a0001c0015t0001 a0002c0030t0001	a0001c0015t0001g0098 a0002c0030t0001g0097 a0001c0015t0001g0098 a0002c0030t0001g0097	2	382	0.0052	-24	c.269 others(41): Show c.2691+861_2691+884delAAAAAAAAAAAAAAAAAAAAAAAA		MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding	22/40						chr17	TogoVar
MYH13_chr17_10295865_10378006	10355828	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG01943.hp2 others(5): Show HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02135.hp2 NA18947.hp2 NA18968.hp2 NA19060.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0051 a0002c0011 others(1): Show a0001c0003 a0001c0051 a0002c0011 a0006c0052	a0001c0003t0001 a0001c0051t0001 a0002c0011t0001 others(1): Show a0001c0003t0001 a0001c0051t0001 a0002c0011t0001 a0006c0052t0001	a0001c0003t0001g0241 a0001c0003t0001g0243 a0001c0003t0001g0244 others(5): Show a0001c0003t0001g0241 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0249 a0001c0051t0001g0245 a0002c0011t0001g0247 a0006c0052t0001g0242	8	382	0.0209	-24	c.739 others(39): Show c.739-705_739-682delAAAAAAAAAAAAAAAAAAAAAAAA		MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding	8/40						chr17	TogoVar
MYH13_chr17_10295865_10378006	10365840	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 NA18944.hp2 others(11): Show HG00423.hp2 HG00544.hp1 NA18944.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18980.hp2 NA18995.hp2 NA19007.hp1 NA19010.hp1 NA19056.hp2 NA19068.hp1 NA19078.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0014 a0001c0015 a0002c0030 others(3): Show a0001c0014 a0001c0015 a0002c0030 a0003c0013 a0005c0018 a0005c0079	a0001c0014t0001 a0001c0015t0001 a0002c0030t0001 others(3): Show a0001c0014t0001 a0001c0015t0001 a0002c0030t0001 a0003c0013t0001 a0005c0018t0001 a0005c0079t0001	a0001c0014t0001g0010 a0001c0015t0001g0011 a0001c0015t0001g0014 others(11): Show a0001c0014t0001g0010 a0001c0015t0001g0011 a0001c0015t0001g0014 a0002c0030t0001g0020 a0002c0030t0001g0022 a0003c0013t0001g0012 a0003c0013t0001g0016 a0003c0013t0001g0017 a0003c0013t0001g0019 a0003c0013t0001g0021 a0003c0013t0001g0023 a0005c0018t0001g0015 a0005c0018t0001g0018 a0005c0079t0001g0013	14	382	0.0367	-24	c.-12 others(41): Show c.-12-1322_-12-1299delACACACACACACACACACACACAC		MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding	2/40						chr17	TogoVar
MYH14_chr19_50198622_50315540	50251504	CATATATA others(17): Show CATATATATATACACACTACACACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02004.hp2 others(9): Show HG00673.hp1 HG01358.hp1 HG02004.hp2 HG02132.hp1 HG02683.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0002c0009 a0002c0019	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0008t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0002c0009t0003 a0002c0019t0001	a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0265 others(9): Show a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0265 a0001c0002t0001g0094 a0001c0004t0002g0085 a0001c0008t0001g0029 a0001c0008t0001g0033 a0001c0012t0001g0100 a0001c0013t0001g0156 a0001c0014t0001g0153 a0002c0009t0003g0192 a0002c0019t0001g0036	12	298	0.0403	-24	c.183 others(41): Show c.1830+817_1830+840delATATATATATACACACTACACACA		MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	15/42						chr19	TogoVar
MYH14_chr19_50198622_50315540	50266557	GAAAGGAA others(17): Show GAAAGGAAGGAAGGAAGGGAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0046 a0002c0063t0001g0046	1	298	0.0034	-24	c.269 others(41): Show c.2695-302_2695-279delGAGGAAAAAAGGAAGGAAGGAAGG		MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	22/42					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYH15_chr3_108375368_108515596	108507226	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01993.hp2 others(2): Show HG00099.hp2 HG00639.hp2 HG01993.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0005 a0001c0006 a0005c0005	a0001c0006t0002 a0005c0005t0001 a0005c0005t0005 a0001c0006t0002 a0005c0005t0001 a0005c0005t0005	a0001c0006t0002g0298 a0005c0005t0001g0166 a0005c0005t0005g0105 others(2): Show a0001c0006t0002g0298 a0005c0005t0001g0166 a0005c0005t0005g0105 a0005c0005t0005g0106 a0005c0005t0005g0107	5	306	0.0163	-24	c.89- others(39): Show c.89-1421_89-1398delATATATATATATATATATATATAT		MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	1/40						chr3	TogoVar
MYH1_chr17_10487307_10523542	10488898	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	360	0.0028	-24	c.34 others(35): Show c.3494_*3517delAAGAAAGAAAGAAAGAAAGAAAGA		MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding					3408		chr17	TogoVar
MYH2_chr17_10516148_10554658	10546256	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	352	0.0028	-24	c.349 others(39): Show c.349-778_349-755delATATATATATATATATATATATAT		MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39						chr17	TogoVar
MYH6_chr14_23376987_23413273	23397929	CTCCTCTT others(17): Show CTCCTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18983.hp1 NA21309.hp2 HG02109.hp1 NA18983.hp1 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0025 a0002c0082 a0006c0008 a0002c0025 a0002c0082 a0006c0008	a0002c0025t0001 a0002c0082t0001 a0006c0008t0001 a0002c0025t0001 a0002c0082t0001 a0006c0008t0001	a0002c0025t0001g0054 a0002c0082t0001g0053 a0006c0008t0001g0289 a0002c0025t0001g0054 a0002c0082t0001g0053 a0006c0008t0001g0289	3	370	0.0081	-24	c.189 others(41): Show c.1892-340_1892-317delAGAAGAAGAAGAAGAAGAAGAGGA		MYH6	ENSG00000197616.13	transcript	ENST00000405093.9	protein_coding	15/38						chr14	TogoVar
MYH6_chr14_23376987_23413273	23397932	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0013 a0002c0004 a0005c0013	a0002c0004t0001 a0005c0013t0001 a0002c0004t0001 a0005c0013t0001	a0002c0004t0001g0112 a0005c0013t0001g0292 a0002c0004t0001g0112 a0005c0013t0001g0292	2	370	0.0054	-24	c.189 others(41): Show c.1892-343_1892-320delAGAAGAAGAAGAAGAAGAAGAAGA		MYH6	ENSG00000197616.13	transcript	ENST00000405093.9	protein_coding	15/38						chr14	TogoVar
MYH9_chr22_36276280_36392967	36310140	CAGGGCTG others(17): Show CAGGGCTGTAATCTCAGCCCCTAGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18964.hp1 HG01123.hp2 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0155 a0001c0003t0003g0179 a0001c0003t0003g0155 a0001c0003t0003g0179	2	242	0.0083	-24	c.172 others(41): Show c.1729-768_1729-745delCCTAGGGGCTGAGATTACAGCCCT		MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	14/40						chr22	TogoVar
MYH9_chr22_36276280_36392967	36360030	ACACCACC others(17): Show ACACCACCACCACCACCACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG02602.hp2 others(4): Show HG00323.hp2 HG01167.hp2 HG02602.hp2 HG02738.hp1 HG03942.hp2 NA18985.hp1 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0024 others(2): Show a0001c0001 a0001c0003 a0001c0024 a0002c0002 a0009c0016	a0001c0001t0001 a0001c0001t0004 a0001c0003t0018 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0018 a0001c0024t0003 a0002c0002t0003 a0009c0016t0001	a0001c0001t0001g0211 a0001c0001t0004g0208 a0001c0001t0004g0212 others(4): Show a0001c0001t0001g0211 a0001c0001t0004g0208 a0001c0001t0004g0212 a0001c0003t0018g0242 a0001c0024t0003g0192 a0002c0002t0003g0213 a0009c0016t0001g0210	7	242	0.0289	-24	c.-19 others(43): Show c.-19-10799_-19-10776delGTGGTGGTGGTGGTGGTGGTGGTG		MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40						chr22	TogoVar
MYH9_chr22_36276280_36392967	36384607	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20129.hp1 HG02738.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0004 a0001c0024t0003 a0001c0001t0004 a0001c0024t0003	a0001c0001t0004g0208 a0001c0024t0003g0192 a0001c0001t0004g0208 a0001c0024t0003g0192	2	242	0.0083	-24	c.-20 others(41): Show c.-20+3176_-20+3199delATATATATATATATATATATTTTT		MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40						chr22	TogoVar
MYH9_chr22_36276280_36392967	36384609	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02615.hp2 others(1): Show HG02280.hp1 HG02572.hp1 HG02615.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0221 a0001c0001t0002g0197 a0001c0001t0004g0220 others(1): Show a0001c0001t0001g0221 a0001c0001t0002g0197 a0001c0001t0004g0220 a0001c0001t0007g0222	4	242	0.0165	-24	c.-20 others(41): Show c.-20+3174_-20+3197delATATATATATATATATATATATTT		MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40						chr22	TogoVar

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