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
MYCBP2_chr13_77039657_77332094	77294129	T T	TATATATA others(27): Show TATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	334	0.0030	34	c.378 others(51): Show c.378+2469_378+2470insGTATATATATATATATATATATATGTAT ATATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0260 a0002c0003t0001g0260	1	376	0.0027	34	c.125 others(51): Show c.1258-214_1258-213insATATATATATATATATATATATATATAT ATATAT	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBP_chr1_38857493_38878348	38866044	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	2	434	0.0046	34	c.267 others(49): Show c.267+835_267+836insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	4/4			chr1	TogoVar
MYDGF_chr19_4652545_4675342	4670512	T T	TGCCGAGG others(27): Show TGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG02273.hp2 others(3): Show HG00280.hp1 HG01255.hp2 HG02273.hp2 HG02622.hp1 HG02976.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0153 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0153 a0002c0002t0002g0085 a0002c0002t0002g0109	6	410	0.0146	34	c.-17 others(43): Show c.-179_-178insGGCCCCGCCCCCTCGGCGGCCCCGCCCCCTCGGC	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		171		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672082	T T	TGTGAATA others(27): Show TGTGAATATATATATTCATATATTCACATATGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01069.hp2 others(25): Show HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp2 HG01175.hp1 HG01256.hp2 HG01358.hp1 HG02071.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp2 HG03942.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18951.hp2 NA18955.hp2 NA18965.hp1 NA18966.hp1 NA18975.hp1 NA18995.hp2 NA19009.hp1 NA19010.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0292	28	410	0.0683	34	c.-17 others(45): Show c.-1749_-1748insTCACATATGTGAATATATGAATATATATATTCAC	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1741		chr19	TogoVar
MYH10_chr17_8469224_8635725	8511071	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	274	0.0037	34	c.295 others(53): Show c.2953-1123_2953-1122insGTATATATATATATATATATATATAT ATATATAT	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	24/42			chr17	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0247 a0002c0001t0001g0247	1	297	0.0034	34	c.578 others(53): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYH13_chr17_10295865_10378006	10376233	A A	ATTAGCTA others(27): Show ATTAGCTAATATATATTAGTATATATATTAGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 NA18944.hp2 others(15): Show HG00423.hp2 HG00544.hp1 NA18944.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18980.hp2 NA18984.hp1 NA18992.hp1 NA18995.hp2 NA19007.hp1 NA19010.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19078.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0004 a0001c0014 a0001c0015 others(6): Show a0001c0004 a0001c0014 a0001c0015 a0001c0039 a0002c0030 a0003c0013 a0004c0010 a0005c0018 a0005c0079	a0001c0004t0001 a0001c0014t0001 a0001c0015t0001 others(6): Show a0001c0004t0001 a0001c0014t0001 a0001c0015t0001 a0001c0039t0001 a0002c0030t0001 a0003c0013t0001 a0004c0010t0001 a0005c0018t0001 a0005c0079t0001	a0001c0004t0001g0328 a0001c0014t0001g0010 a0001c0015t0001g0011 others(15): Show a0001c0004t0001g0328 a0001c0014t0001g0010 a0001c0015t0001g0011 a0001c0015t0001g0014 a0001c0039t0001g0113 a0001c0039t0001g0115 a0002c0030t0001g0020 a0002c0030t0001g0022 a0003c0013t0001g0012 a0003c0013t0001g0016 a0003c0013t0001g0017 a0003c0013t0001g0019 a0003c0013t0001g0021 a0003c0013t0001g0023 a0004c0010t0001g0326 a0005c0018t0001g0015 a0005c0018t0001g0018 a0005c0079t0001g0013	18	382	0.0471	34	c.-33 others(45): Show c.-3319_-3318insATAGCTAATATATATACTAATATATATTAGCTAA	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding		3228		chr17	TogoVar
MYH15_chr3_108375368_108515596	108507264	T T	TTCACATA others(27): Show TTCACATATGAATATATATGAATATTCACATATGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	306	0.0033	34	c.89- others(49): Show c.89-1436_89-1435insTCATATGTGAATATTCATATATATTCATAT GTGA	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	1/40			chr3	TogoVar
MYL10_chr7_101608330_101634296	101617828	A A	ATCTGTGC others(27): Show ATCTGTGCCTCTTCCATCAGACTGGATCAGGGCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01123.hp1 others(25): Show HG00673.hp2 HG00738.hp2 HG01123.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp2 NA18944.hp1 NA18957.hp2 NA18966.hp1 NA18998.hp2 NA19002.hp1 NA19056.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0186 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0216	28	398	0.0704	34	c.455 others(51): Show c.455-1564_455-1531dupAGGCCCTGATCCAGTCTGATGGAAGAGG CACAGA	MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding	5/7			chr7	TogoVar
MYO10_chr5_16656907_16941288	16848704	T T	TGCTCAAC others(27): Show TGCTCAACAATTGACGGCAGAAGGGCTAGTCTCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0155 a0001c0039t0155	a0001c0039t0155g0263 a0001c0039t0155g0263	1	272	0.0037	34	c.120 others(53): Show c.120+28904_120+28905insCAGAGACTAGCCCTTCTGCCGTCAAT TGTTGAGC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO16_chr13_108624611_109213005	108793347	G G	GGAAATAG others(27): Show GGAAATAGAATATGTACAAAGATAATCAATTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 NA18906.hp1 HG02965.hp1 HG03041.hp1 NA18906.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0005 a0005c0037 a0012c0054 a0001c0005 a0005c0037 a0012c0054	a0001c0005t0001 a0005c0037t0016 a0012c0054t0001 a0001c0005t0001 a0005c0037t0016 a0012c0054t0001	a0001c0005t0001g0069 a0005c0037t0016g0133 a0012c0054t0001g0020 a0001c0005t0001g0069 a0005c0037t0016g0133 a0012c0054t0001g0020	3	152	0.0197	34	c.617 others(49): Show c.617-165_617-132dupATAGAATATGTACAAAGATAATCAATTCTT TGAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0069 a0002c0069	a0002c0069t0022 a0002c0069t0022	a0002c0069t0022g0073 a0002c0069t0022g0073	1	152	0.0066	34	c.236 others(53): Show c.2369+7348_2369+7349insCTCTATATATATATATATATATATAT ATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0023 a0023	a0023c0062 a0023c0062	a0023c0062t0014 a0023c0062t0014	a0023c0062t0014g0128 a0023c0062t0014g0128	1	152	0.0066	34	c.236 others(53): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109010957	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0019 a0001c0008t0004g0019	1	152	0.0066	34	c.259 others(53): Show c.2595+1927_2595+1928insATATATATATATATATATATATATAT ATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109022469	T T	TATGTATA others(27): Show TATGTATATATTTATGTTATATATACAATATAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0041 a0001c0002t0012g0041	1	152	0.0066	34	c.279 others(53): Show c.2796+2561_2796+2594dupGTATATATTTATGTTATATATACAAT ATAAACAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023670	A A	AATATATG others(27): Show AATATATGTATATATGTATATATACAAATATATGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03041.hp1 others(1): Show HG02572.hp1 HG02886.hp1 HG03041.hp1 NA18522.hp1	a0001 a0022 a0001 a0022	a0001c0005 a0022c0063 a0001c0005 a0022c0063	a0001c0005t0001 a0022c0063t0003 a0001c0005t0001 a0022c0063t0003	a0001c0005t0001g0018 a0001c0005t0001g0069 a0001c0005t0001g0110 others(1): Show a0001c0005t0001g0018 a0001c0005t0001g0069 a0001c0005t0001g0110 a0022c0063t0003g0070	4	152	0.0263	34	c.279 others(53): Show c.2796+3773_2796+3774insGTATATATACAAATATATGTATATAT GTATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109040385	C C	CACAGAGA others(27): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0001 a0020c0036t0001	a0020c0036t0001g0140 a0020c0036t0001g0140	1	152	0.0066	34	c.279 others(53): Show c.2797-6530_2797-6529insCAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109199196	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0014 a0014	a0014c0056 a0014c0056	a0014c0056t0001 a0014c0056t0001	a0014c0056t0001g0057 a0014c0056t0001g0057	1	152	0.0066	34	c.541 others(53): Show c.5416-7380_5416-7379insGTATATATATATATATATATATATAT ATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1B_chr2_191240404_191430386	191292718	C C	CTAGGAGG others(27): Show CTAGGAGGAAGTCCATTCTGATGGTTGAGGGGCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG03225.hp2 HG02723.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0006g0158 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0006g0158	3	170	0.0177	34	c.136 others(51): Show c.136-3387_136-3354dupGGAAGTCCATTCTGATGGTTGAGGGGCC TTAGGA	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18964.hp1 HG00323.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0055 a0001c0001t0004 a0001c0002t0055	a0001c0001t0004g0194 a0001c0002t0055g0223 a0001c0001t0004g0194 a0001c0002t0055g0223	2	226	0.0089	34	c.110 others(53): Show c.1107+1224_1107+1225insTATACACATACACACACACACACACA CACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG01167.hp2 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0108 a0001c0002t0003g0119 a0001c0002t0001g0108 a0001c0002t0003g0119	2	226	0.0089	34	c.110 others(53): Show c.1107+1224_1107+1225insTACACATACACACACACACACACACA CACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282911	A A	AGGGGGAG others(27): Show AGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0058 a0001c0012t0058	a0001c0012t0058g0226 a0001c0012t0058g0226	1	226	0.0044	34	c.4-1 others(49): Show c.4-10463_4-10462insCTCCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	342	0.0029	34	c.327 others(49): Show c.327-458_327-457insAGAGAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18960.hp2 NA19055.hp2 HG00280.hp2 NA18960.hp2 NA19055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0021 a0003c0004t0003 a0001c0001t0002 a0001c0001t0021 a0003c0004t0003	a0001c0001t0002g0313 a0001c0001t0021g0061 a0003c0004t0003g0023 a0001c0001t0002g0313 a0001c0001t0021g0061 a0003c0004t0003g0023	3	342	0.0088	34	c.327 others(49): Show c.327-458_327-457insAGAGAGAGAGTGTGTGTGTGTGTGTGTGTG TGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(27): Show ACACACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	342	0.0029	34	c.327 others(49): Show c.327-458_327-457insAGAGAGAGAGAGTGTGTGTGTGTGTGTGTG TGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(27): Show ACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0087 a0001c0001t0002g0089	2	342	0.0059	34	c.327 others(49): Show c.327-458_327-457insAGAGAGAGAGAGAGTGTGTGTGTGTGTGTG TGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(27): Show ACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0023 a0001c0008 a0001c0023	a0001c0008t0005 a0001c0023t0005 a0001c0008t0005 a0001c0023t0005	a0001c0008t0005g0157 a0001c0023t0005g0119 a0001c0008t0005g0157 a0001c0023t0005g0119	2	342	0.0059	34	c.327 others(49): Show c.327-458_327-457insAGAGAGAGAGAGAGAGAGAGTGTGTGTGTG TGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0281 a0001c0003t0001g0281	1	312	0.0032	34	c.194 others(51): Show c.1949+324_1949+325insAAAATATATATATATATATATATATATA TATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0168 a0002c0001t0001g0168	1	312	0.0032	34	c.194 others(51): Show c.1949+351_1949+352insATATATATATATATATATATATATATAT ATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443045	T T	TGTATACA others(27): Show TGTATACACATATATATGTGTGTATATATGTGTAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	312	0.0032	34	c.268 others(51): Show c.2689-464_2689-463insCACATATATATGTGTGTATATATGTGTA CGTATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO3A_chr10_25929229_26217532	26075696	G G	GATATATA others(27): Show GATATATATATATGTCTCTCTCATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0005 a0009c0041t0005	a0009c0041t0005g0259 a0009c0041t0005g0259	1	280	0.0036	34	c.135 others(53): Show c.1359+5305_1359+5306insATGTCTCTCTCATATATATATGATAT ATATATAT	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO3B_chr2_170173147_170660167	170520466	C C	CATATATA others(27): Show CATATATATATACACATATATATATACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0008 a0018c0031t0008	a0018c0031t0008g0157 a0018c0031t0008g0157	1	174	0.0058	34	c.357 others(51): Show c.3575+935_3575+936insTACACATATATATATACACACACATATA TATATA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18969.hp2 HG02809.hp2 NA18969.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0007 a0001c0001t0001 a0003c0005t0007	a0001c0001t0001g0184 a0003c0005t0007g0073 a0001c0001t0001g0184 a0003c0005t0007g0073	2	302	0.0066	34	c.220 others(53): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5B_chr18_49817789_50200147	49974798	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG03579.hp2 others(1): Show HG00639.hp2 HG01243.hp2 HG03579.hp2 NA18906.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0010 a0007c0011 a0001c0002 a0002c0010 a0007c0011	a0001c0002t0001 a0002c0010t0012 a0007c0011t0010 a0001c0002t0001 a0002c0010t0012 a0007c0011t0010	a0001c0002t0001g0204 a0002c0010t0012g0125 a0002c0010t0012g0140 others(1): Show a0001c0002t0001g0204 a0002c0010t0012g0125 a0002c0010t0012g0140 a0007c0011t0010g0030	4	238	0.0168	34	c.105 others(51): Show c.1057-184_1057-183insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	9/39			chr18	TogoVar
MYO5B_chr18_49817789_50200147	50043382	A A	ATTAAATA others(27): Show ATTAAATATATTTAAATATATTAAATATTAAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0003 a0003c0004t0003g0003	1	238	0.0042	34	c.139 others(51): Show c.139-3102_139-3069dupATATTTAATATTTAATATATTTAAATAT ATTTAA	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	2/39			chr18	TogoVar
MYO9A_chr15_71817291_72123150	71860969	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	308	0.0033	34	c.609 others(53): Show c.6092-1174_6092-1173insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	33/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(27): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	308	0.0033	34	c.268 others(53): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0018 a0008c0009t0050 a0008c0009t0018 a0008c0009t0050	a0008c0009t0018g0265 a0008c0009t0050g0267 a0008c0009t0018g0265 a0008c0009t0050g0267	2	308	0.0065	34	c.268 others(53): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAGAAAAGAAAAAA AAAAAAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	308	0.0033	34	c.256 others(53): Show c.2562+5613_2562+5614insAAAAAAAAAATATATATATATATATA TATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0018 a0008c0018t0018	a0008c0018t0018g0266 a0008c0018t0018g0266	1	308	0.0033	34	c.218 others(53): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71975390	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19080.hp2 NA18960.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0007 a0001c0011t0007 a0001c0002t0007 a0001c0011t0007	a0001c0002t0007g0009 a0001c0011t0007g0012 a0001c0002t0007g0009 a0001c0011t0007g0012	2	308	0.0065	34	c.184 others(53): Show c.1844+2747_1844+2780dupACACACACACACACACACACACACAC ACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	12/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93354666	A A	ACTCTCTC others(27): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	240	0.0083	34	c.340 others(51): Show c.3404-812_3404-779dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03209.hp1 HG03486.hp1 others(10): Show HG00639.hp1 HG03209.hp1 HG03486.hp1 HG04184.hp1 NA18948.hp1 NA18974.hp2 NA18977.hp2 NA18992.hp1 NA18992.hp2 NA19003.hp2 NA19012.hp1 NA19012.hp2 NA19084.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0051 a0002c0013 a0008c0031 a0010c0024	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0009t0001 a0001c0051t0001 a0002c0013t0001 a0008c0031t0001 a0010c0024t0001	a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0146 others(10): Show a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0002t0002g0208 a0001c0002t0002g0218 a0001c0005t0001g0024 a0001c0005t0001g0093 a0001c0009t0001g0021 a0001c0051t0001g0059 a0002c0013t0001g0102 a0008c0031t0001g0033 a0010c0024t0001g0083 a0010c0024t0001g0084	13	240	0.0542	34	c.200 others(53): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA TACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02132.hp1 HG02630.hp2 HG02055.hp2 HG02132.hp1 HG02630.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0015 a0005c0030 a0001c0001 a0001c0015 a0005c0030	a0001c0001t0002 a0001c0015t0001 a0005c0030t0002 a0001c0001t0002 a0001c0015t0001 a0005c0030t0002	a0001c0001t0002g0176 a0001c0015t0001g0109 a0005c0030t0002g0170 a0001c0001t0002g0176 a0001c0015t0001g0109 a0005c0030t0002g0170	3	240	0.0125	34	c.200 others(53): Show c.2001+1169_2001+1170insTATATATATATATATATATATATATA CACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0001 a0001c0057t0001	a0001c0057t0001g0051 a0001c0057t0001g0051	1	240	0.0042	34	c.200 others(53): Show c.2001+1169_2001+1170insTATATATATATATATATATATATACA CACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00558.hp2 others(12): Show HG00423.hp2 HG00558.hp1 HG00558.hp2 HG01109.hp1 HG02015.hp2 HG03491.hp2 HG04228.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18984.hp1 NA19010.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0010 a0002c0011 a0024c0034	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0002c0010t0002 a0002c0011t0002 a0024c0034t0002	a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0154 others(12): Show a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0002t0001g0096 a0001c0002t0002g0182 a0001c0002t0002g0199 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0003t0001g0141 a0001c0005t0001g0092 a0001c0005t0001g0099 a0002c0010t0002g0220 a0002c0011t0002g0191 a0024c0034t0002g0185	15	240	0.0625	34	c.730 others(51): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG02602.hp2 HG00280.hp1 HG00280.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0011 a0001c0003 a0001c0012 a0002c0011	a0001c0003t0002 a0001c0012t0001 a0002c0011t0001 a0001c0003t0002 a0001c0012t0001 a0002c0011t0001	a0001c0003t0002g0211 a0001c0012t0001g0074 a0002c0011t0001g0156 a0001c0003t0002g0211 a0001c0012t0001g0074 a0002c0011t0001g0156	3	240	0.0125	34	c.730 others(51): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TATAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	240	0.0042	34	c.88+ others(49): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0172 a0010c0172	a0010c0172t0001 a0010c0172t0001	a0010c0172t0001g0124 a0010c0172t0001g0124	1	330	0.0030	34	c.27 others(45): Show c.2727_*2728insTATATATATATATATATATATATATATATATATA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar

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