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
DTX3L_chr3_122559338_122580203	122579999	G G	GTATATAT others(7): Show GTATATATGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01256.hp1 others(5): Show HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG02602.hp2 HG03710.hp2 HG04204.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 others(3): Show a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0111 a0002c0002t0002g0007 a0002c0002t0002g0039	8	472	0.0170	14	c.82 others(25): Show c.8252_*8253insTATATATGTATATA	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		4797		chr3	TogoVar
DTX4_chr11_59167132_59213588	59174501	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19006.hp2 NA19060.hp1 HG03225.hp1 NA19006.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0009 a0001c0003t0002 a0001c0001t0002 a0001c0002t0009 a0001c0003t0002	a0001c0001t0002g0081 a0001c0002t0009g0155 a0001c0003t0002g0080 a0001c0001t0002g0081 a0001c0002t0009g0155 a0001c0003t0002g0080	3	390	0.0077	14	c.211 others(31): Show c.211+1707_211+1708insAAAAAAAAAAAAAA	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
DUS1L_chr17_82052506_82070804	82060213	A A	AGGAGTGC others(7): Show AGGAGTGCCGCTGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02109.hp1 others(13): Show HG01261.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03579.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0003c0005t0002	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0002g0050 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0002g0050 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0002g0013	16	424	0.0377	14	c.102 others(31): Show c.1023-121_1023-120insAGCAGCGGCACTCC	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding	10/13			chr17	TogoVar
DUS3L_chr19_5780140_5796163	5795612	T T	TCCTGTAG others(7): Show TCCTGTAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0010 a0002c0001t0002g0010	1	364	0.0028	14	c.-44 others(25): Show c.-4472_-4471insCCTCCTCCTACAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4450		chr19	TogoVar
DUSP12_chr1_161744786_161762238	161746530	T T	TCCTTCCT others(7): Show TCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	446	0.0022	14	c.-32 others(25): Show c.-3272_-3271insCCTTCCTTCCTTCC	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding		3255		chr1	TogoVar
DUSP12_chr1_161744786_161762238	161746586	T T	TTCCTTCT others(7): Show TTCCTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02897.hp2 HG02615.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0039 a0001c0001t0001g0070	3	446	0.0067	14	c.-32 others(25): Show c.-3216_-3215insTCCTTCTCTCTCTC	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding		3199		chr1	TogoVar
DUSP12_chr1_161744786_161762238	161746600	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp1 others(99): Show HG00099.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01109.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18985.hp2 NA18992.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0011 a0001c0002t0001g0001 a0001c0002t0001g0017 others(11): Show a0001c0001t0001g0011 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0002g0001 a0001c0002t0002g0040 a0001c0003t0001g0003 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0003t0001g0029 a0001c0003t0001g0036 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0074	102	446	0.2287	14	c.-32 others(25): Show c.-3202_-3201insTCTCTCTCTCTCTT	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding		3185		chr1	TogoVar
DUSP12_chr1_161744786_161762238	161746600	C C	CTCTCTCT others(7): Show CTCTCTCTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	446	0.0022	14	c.-32 others(25): Show c.-3202_-3201insTCTCTCTCTTTCTT	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding		3185		chr1	TogoVar
DUSP12_chr1_161744786_161762238	161756483	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	446	0.0022	14	c.862 others(29): Show c.862-279_862-266dupATATATATATATAT	DUSP12	ENSG00000081721.12	transcript	ENST00000367943.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DUSP14_chr17_37484891_37518498	37485510	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02135.hp2 HG02293.hp2 others(6): Show HG00423.hp2 HG02135.hp2 HG02293.hp2 HG02723.hp2 HG03492.hp2 HG03704.hp2 NA18991.hp2 NA19060.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0338 a0001c0001t0002g0143 a0001c0001t0002g0144 others(6): Show a0001c0001t0001g0338 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0199 a0001c0001t0002g0202	9	421	0.0214	14	c.-46 others(25): Show c.-4629_-4628insTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding		4380		chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509109	A A	ATATATAT others(7): Show ATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02004.hp2 HG03017.hp1 others(7): Show HG01109.hp1 HG02004.hp2 HG03017.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp1 NA18967.hp1 NA18978.hp2 NA19056.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0001g0263 others(7): Show a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0350 a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0001t0001g0365	10	421	0.0238	14	c.-18 others(33): Show c.-180-1559_-180-1558insGTGTGTATATATAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31867640	T T	TTTTGTTT others(7): Show TTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp1 HG02486.hp2 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	2	378	0.0053	14	c.56- others(27): Show c.56-488_56-487insCAAAAAAAAACAAA	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding	2/6			chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873824	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG04204.hp1 HG02965.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0107 a0002c0002t0002g0106 a0001c0001t0001g0107 a0002c0002t0002g0106	2	378	0.0053	14	c.-35 others(25): Show c.-3501_-3488dupTTCTTTCTTTCTTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3298		chr20	TogoVar
DUSP16_chr12_12468282_12567863	12472763	G G	GCCTCTCC others(7): Show GCCTCTCCCTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG03225.hp1 HG02280.hp2 HG03195.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0051 a0001c0001t0062 a0005c0015t0037 a0001c0001t0051 a0001c0001t0062 a0005c0015t0037	a0001c0001t0051g0181 a0001c0001t0062g0333 a0005c0015t0037g0323 a0001c0001t0051g0181 a0001c0001t0062g0333 a0005c0015t0037g0323	3	352	0.0085	14	c.40 others(25): Show c.4069_*4070insTGTGGAGGGAGAGG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		518		chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19005.hp1 NA19055.hp2 others(2): Show NA18980.hp1 NA19005.hp1 NA19055.hp2 NA19080.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 others(2): Show a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316	5	352	0.0142	14	c.-36 others(33): Show c.-366+1157_-366+1170dupTGTGTGTGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(7): Show TCACACACCCACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0062 a0001c0001t0051 a0001c0001t0062	a0001c0001t0051g0181 a0001c0001t0062g0333 a0001c0001t0051g0181 a0001c0001t0062g0333	2	352	0.0057	14	c.-36 others(33): Show c.-366+1170_-366+1171insTGTGTGGGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12564927	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0185 a0002c0003t0004g0185	1	352	0.0028	14	c.-31 others(25): Show c.-3177_-3176insTTTTTTTTTTTTTT	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding		2065		chr12	TogoVar
DUSP18_chr22_30656445_30672875	30669675	C C	CATATATA others(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00642.hp2 others(30): Show HG00140.hp1 HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG02056.hp1 HG02257.hp2 HG02451.hp2 HG02683.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0035 a0001c0001t0049 a0001c0001t0069 a0001c0001t0082	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0074 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0003g0036 a0001c0001t0004g0009 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0005g0005 a0001c0001t0005g0191 a0001c0001t0006g0046 a0001c0001t0013g0020 a0001c0001t0019g0183 a0001c0001t0020g0054 a0001c0001t0021g0056 a0001c0001t0035g0059 a0001c0001t0049g0067 a0001c0001t0069g0165 a0001c0001t0082g0192	33	448	0.0737	14	c.-22 others(25): Show c.-2292_-2291insATATATATATATAT	DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding		1801		chr22	TogoVar
DUSP22_chr6_287487_356355	343687	G G	GTGTGCAT others(7): Show GTGTGCATGTTTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(143): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0209 a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0068 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0005g0014 a0001c0001t0005g0094 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0007g0016 a0001c0001t0007g0019 a0001c0001t0007g0041 a0001c0001t0008g0015 a0001c0001t0008g0020 a0001c0001t0008g0040 a0001c0001t0010g0102 a0001c0001t0010g0196 a0001c0001t0011g0180 a0001c0001t0011g0199 a0001c0001t0012g0207 a0001c0001t0013g0021 a0001c0003t0001g0181 a0001c0003t0001g0193 a0001c0003t0003g0113	146	221	0.6606	14	c.189 others(31): Show c.189-2162_189-2149dupCATGTTTGCATGTG	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 NA19011.hp2 HG02738.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0006 a0001c0001t0001g0011 a0001c0001t0002g0006	2	420	0.0048	14	c.44 others(25): Show c.4445_*4446insGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33592538	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0049 a0001c0001t0008g0049	1	420	0.0024	14	c.437 others(29): Show c.437-340_437-327dupTTTTTTTTTTTTTT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	3/3			chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02572.hp1 HG02717.hp1 others(1): Show HG02132.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0149	4	420	0.0095	14	c.-76 others(29): Show c.-76-305_-76-292dupGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074311	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03688.hp1 HG01256.hp2 HG03688.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0264 a0003c0003t0001g0265 a0002c0002t0001g0264 a0003c0003t0001g0265	2	368	0.0054	14	c.-77 others(23): Show c.-778_-777insATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		670		chr10	TogoVar
DUSP29_chr10_75032472_75078642	75074313	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0260 a0003c0003t0001g0260	1	368	0.0027	14	c.-78 others(23): Show c.-780_-779insATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		672		chr10	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AATATATA others(7): Show AATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0270 a0003c0003t0001g0270	1	368	0.0027	14	c.-78 others(23): Show c.-784_-783insATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUSP8_chr11_1549051_1577271	1562647	A A	ATACATGC others(7): Show ATACATGCACACATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG02647.hp1 others(2): Show HG00639.hp1 HG00642.hp2 HG02647.hp1 HG02895.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0058 a0001c0002t0003g0014 a0001c0002t0003g0058	5	367	0.0136	14	c.370 others(31): Show c.370+1190_370+1203dupCATGTGTGCATGTA	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding	3/6			chr11	TogoVar
DUXA_chr19_57149021_57172485	57165320	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	446	0.0022	14	c.25+ others(29): Show c.25+2098_25+2099insATATATATATATAT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	446	0.0022	14	c.25+ others(29): Show c.25+2096_25+2097insATATATATATATAT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57171992	G G	GCGCGAGC others(7): Show GCGCGAGCGGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01069.hp2 others(37): Show HG00099.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02615.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18962.hp2 NA19030.hp2 NA19056.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0073 others(35): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0391 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0115 a0001c0001t0002g0375 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0002g0385 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0002g0390 a0001c0001t0002g0392 a0001c0001t0002g0393 a0001c0001t0002g0396	40	446	0.0897	14	c.-45 others(25): Show c.-4550_-4549insGACCCCCGCTCGCG	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4508		chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19055.hp1 NA20905.hp2 HG03710.hp1 NA19055.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0004g0048 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0004g0048	3	406	0.0074	14	c.194 others(29): Show c.194+968_194+981dupTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYDC1_chr10_80331105_80361755	80346444	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG03471.hp1 HG02723.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0121	3	366	0.0082	14	c.250 others(31): Show c.250-4097_250-4084dupAAAAAAAAAAAAAA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	3/6			chr10	TogoVar
DYM_chr18_49031387_49465645	49080150	C C	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG01346.hp2 others(11): Show HG01109.hp1 HG01192.hp2 HG01346.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG03688.hp2 HG03831.hp2 NA18747.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0032	a0001c0001t0002g0056 a0001c0001t0002g0113 a0001c0001t0002g0171 others(11): Show a0001c0001t0002g0056 a0001c0001t0002g0113 a0001c0001t0002g0171 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0232 a0001c0001t0003g0185 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0018g0144 a0001c0001t0019g0196 a0001c0001t0032g0013	14	290	0.0483	14	c.202 others(35): Show c.2025+17251_2025+17252insCCCCCCCCCCCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49081519	A A	AGGGAGAG others(7): Show AGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0105 a0001c0001t0007g0106	2	290	0.0069	14	c.202 others(35): Show c.2025+15869_2025+15882dupCTCTCCCCTCTCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145108	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp1 HG02257.hp2 others(6): Show HG01952.hp2 HG02004.hp1 HG02257.hp2 HG02622.hp2 NA18951.hp2 NA18979.hp1 NA18984.hp1 NA18995.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0002t0001g0222 a0001c0002t0001g0247	9	290	0.0310	14	c.172 others(35): Show c.1728+18563_1728+18576dupATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG01934.hp1 others(2): Show HG01109.hp1 HG01433.hp2 HG01934.hp1 HG02559.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0024 a0001c0001t0002 a0001c0003t0024	a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0284 others(2): Show a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0003t0024g0008	5	290	0.0172	14	c.172 others(35): Show c.1728+18550_1728+18551insTTATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG00741.hp2 others(28): Show HG00408.hp1 HG00738.hp1 HG00741.hp2 HG01243.hp1 HG01255.hp1 HG02074.hp2 HG02135.hp1 HG02647.hp1 HG02723.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp2 HG03654.hp1 HG03688.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18964.hp1 NA18979.hp2 NA18989.hp2 NA19009.hp2 NA19010.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0005c0006t0006	a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0001t0001g0249 others(28): Show a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0001t0001g0249 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0197 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0003g0153 a0001c0001t0003g0164 a0001c0001t0003g0181 a0001c0001t0004g0138 a0001c0001t0006g0183 a0001c0001t0007g0002 a0001c0001t0007g0106 a0001c0001t0007g0108 a0001c0001t0007g0120 a0001c0001t0008g0014 a0001c0001t0011g0240 a0001c0001t0012g0160 a0001c0001t0012g0211 a0001c0001t0022g0286 a0005c0006t0006g0157	31	290	0.1069	14	c.146 others(33): Show c.1460+4780_1460+4793dupTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254281	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	290	0.0035	14	c.146 others(33): Show c.1460+2715_1460+2728dupATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254325	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19088.hp2 HG03579.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0023 a0001c0001t0001 a0002c0010t0023	a0001c0001t0001g0045 a0002c0010t0023g0009 a0001c0001t0001g0045 a0002c0010t0023g0009	2	290	0.0069	14	c.146 others(33): Show c.1460+2684_1460+2685insGTATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289733	A A	ATATATAT others(7): Show ATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0006 a0001c0003t0009g0006	1	290	0.0035	14	c.764 others(31): Show c.764-3118_764-3117insCACACATATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292351	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	290	0.0035	14	c.764 others(31): Show c.764-5736_764-5735insGTGTGTGTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292355	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01516.hp2 HG01517.hp1 others(5): Show HG00597.hp1 HG01516.hp2 HG01517.hp1 HG02523.hp1 NA18961.hp1 NA18992.hp1 NA19056.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0093 a0001c0001t0003g0094 others(5): Show a0001c0001t0003g0083 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0104	8	290	0.0276	14	c.764 others(31): Show c.764-5753_764-5740dupGTGTGTGTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292355	G G	GACAGACA others(7): Show GACAGACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	290	0.0035	14	c.764 others(31): Show c.764-5740_764-5739insGTGTGTGTGTCTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317551	T T	TTGTCTCT others(7): Show TTGTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01433.hp2 others(3): Show HG00408.hp1 HG00621.hp2 HG01433.hp2 HG02300.hp1 NA18747.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0197 others(3): Show a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0217 a0001c0001t0003g0185 a0001c0001t0012g0160	6	290	0.0207	14	c.763 others(33): Show c.763+14312_763+14313insGAGAGAGAGAGACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(7): Show CTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp1 others(4): Show HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03688.hp1 HG03831.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0009 a0001c0001t0004 a0001c0003t0009	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 others(4): Show a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0152 a0001c0003t0009g0004 a0001c0003t0009g0006	7	290	0.0241	14	c.763 others(33): Show c.763+14217_763+14218insAGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101984401	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0272 a0001c0007t0010g0272	1	280	0.0036	14	c.146 others(31): Show c.1461+810_1461+823dupGTGTGTGTGTGTGT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	7/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG03139.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG03139.hp1 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0024 a0002c0004t0004g0042 a0002c0004t0004g0043 others(1): Show a0002c0004t0004g0024 a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0048	4	280	0.0143	14	c.130 others(33): Show c.13007-166_13007-153dupATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	280	0.0036	14	c.130 others(33): Show c.13007-175_13007-174insGTGTGTGTGTATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	G G	GTATGTAT others(7): Show GTATGTATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	230	0.0044	14	c.-10 others(33): Show c.-10+13005_-10+13006insGTATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18747.hp2 HG02647.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0207 a0001c0007t0001g0030 a0001c0001t0001g0207 a0001c0007t0001g0030	2	230	0.0087	14	c.315 others(31): Show c.315-4091_315-4078dupATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846621	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	230	0.0044	14	c.374 others(33): Show c.374+18506_374+18507insGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar

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