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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
MS4A6E_chr11_60322255_60346341	60342282	CCTTCCGC others(18): Show CCTTCCGCCACAGGAGAGGACCATTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	450	0.0022	-25	c.15 others(36): Show c.1517_*1541delCTTCCGCCACAGGAGAGGACCATTG	MS4A6E	ENSG00000166926.9	transcript	ENST00000684409.1	protein_coding		942		chr11	TogoVar
MSH2_chr2_47398156_47488223	47415794	GACGTGGC others(18): Show GACGTGGCTCATGCCTGTAATCCCAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp1 others(4): Show HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 others(4): Show a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366	7	370	0.0189	-25	c.943 others(40): Show c.943-501_943-477delACGTGGCTCATGCCTGTAATCCCAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	5/15			chr2	TogoVar
MSH2_chr2_47398156_47488223	47461946	TCTTTTCT others(18): Show TCTTTTCTTTTCTTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	370	0.0027	-25	c.138 others(44): Show c.1387-1080_1387-1056delTCTTTTCTTTTCTTTTCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461951	TCTTTTCT others(18): Show TCTTTTCTTTTCTTTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp1 NA19030.hp1 others(1): Show HG02896.hp1 HG03579.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0223 a0001c0002t0001g0005	4	370	0.0108	-25	c.138 others(44): Show c.1387-1075_1387-1051delTCTTTTCTTTTCTTTCCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461956	TCTTTTCT others(18): Show TCTTTTCTTTTCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00733.hp1 others(12): Show HG00099.hp1 HG00423.hp1 HG00733.hp1 HG01515.hp2 HG01517.hp1 HG02074.hp1 HG02300.hp1 HG02523.hp1 HG04184.hp2 NA18948.hp2 NA18979.hp1 NA18995.hp1 NA19063.hp2 NA19077.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0176 a0001c0001t0001g0177 others(12): Show a0001c0001t0001g0040 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0236	15	370	0.0405	-25	c.138 others(44): Show c.1387-1070_1387-1046delTCTTTTCTTTCCTTTCCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461961	TCTTTTCT others(18): Show TCTTTTCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0006 a0001c0001t0001g0013	2	370	0.0054	-25	c.138 others(44): Show c.1387-1065_1387-1041delTCTTTCCTTTCCTTTCCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767680	GGAGGGGC others(18): Show GGAGGGGCGCGTGGAGGGGGGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG00544.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0195 a0001c0001t0001g0136 a0001c0001t0001g0195	2	388	0.0052	-25	c.159 others(42): Show c.1596+212_1596+236delAGGGGCGCGTGGAGGGGGGAGTGTG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRA_chr8_10049292_10433891	10074058	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	286	0.0035	-25	c.142 others(44): Show c.142+19416_142+19440delTTTTTTTTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MT4_chr16_56560073_56573957	56566794	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01081.hp2 others(37): Show HG00323.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02293.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03225.hp1 HG03239.hp2 HG03669.hp2 HG03942.hp2 NA18747.hp1 NA18941.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18972.hp1 NA18981.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp2 NA19066.hp2 NA19080.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0022 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0193 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0390	40	428	0.0935	-25	c.32- others(38): Show c.32-929_32-905delAGAAAGAAAGAAAGAAAGAAAGAAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568223	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19080.hp1 NA18941.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0309 a0001c0001t0001g0272 a0001c0001t0001g0309	2	428	0.0047	-25	c.97+ others(38): Show c.97+410_97+434delAGAAAGAAAGAAAGAAAGAAAGAAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTDH_chr8_97639184_97735260	97682247	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18980.hp1 NA18995.hp1 HG03831.hp1 NA18980.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0324 a0001c0001t0004g0346 a0001c0001t0010g0345 a0001c0001t0004g0324 a0001c0001t0004g0346 a0001c0001t0010g0345	3	370	0.0081	-25	c.484 others(42): Show c.484-4420_484-4396delATATATATATATATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11			chr8	TogoVar
MTDH_chr8_97639184_97735260	97682249	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19083.hp2 HG00673.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0006t0004 a0001c0001t0010 a0001c0006t0004	a0001c0001t0010g0356 a0001c0006t0004g0261 a0001c0001t0010g0356 a0001c0006t0004g0261	2	370	0.0054	-25	c.484 others(42): Show c.484-4418_484-4394delATATATATATATATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11			chr8	TogoVar
MTDH_chr8_97639184_97735260	97682255	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19009.hp1 HG02630.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0097 a0001c0001t0012g0015 a0001c0001t0001g0097 a0001c0001t0012g0015	2	370	0.0054	-25	c.484 others(42): Show c.484-4412_484-4388delATATATATATATATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11			chr8	TogoVar
MTDH_chr8_97639184_97735260	97682256	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	370	0.0027	-25	c.484 others(42): Show c.484-4410_484-4386delATATATATATATATATATATATATT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97682260	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19240.hp1 NA19240.hp2 HG01109.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0113 a0001c0001t0005g0176 a0001c0001t0005g0004 a0001c0001t0005g0113 a0001c0001t0005g0176	3	370	0.0081	-25	c.484 others(42): Show c.484-4406_484-4382delATATATATATATATATATATTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97682262	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0117 a0001c0001t0005g0112 a0001c0001t0005g0117	2	370	0.0054	-25	c.484 others(42): Show c.484-4404_484-4380delATATATATATATATATATTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTFR1_chr8_65639734_65715562	65662060	TCTCTCCC others(18): Show TCTCTCCCTCTCTTTCCACAGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	348	0.0029	-25	c.-80 others(42): Show c.-80-7769_-80-7745delAGTCTCCCTCTCCCTCTCTTTCCAC	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	151091046	CCCATGCG others(18): Show CCCATGCGACTGGGTGCAGCATCGTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	226	0.0044	-25	c.284 others(44): Show c.2848-1381_2848-1357delGCAGCATCGTTCCATGCGACTGGGT	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	151091146	CCCATGTG others(18): Show CCCATGTGACTGGGTGCAGCATCGTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0215 a0001c0002t0014g0215	1	226	0.0044	-25	c.284 others(44): Show c.2848-1315_2848-1291delTGACTGGGTGCAGCATCGTTCCATG	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64397133	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02273.hp2 HG00733.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0213 a0001c0001t0001g0090 a0001c0001t0001g0213	2	342	0.0059	-25	c.42- others(40): Show c.42-3658_42-3634delAAAAATATATATATATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64397135	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0304	1	342	0.0029	-25	c.42- others(40): Show c.42-3656_42-3632delAAATATATATATATATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTIF3_chr13_27430643_27455564	27450550	GTACAGCG others(18): Show GTACAGCGGATCTGCGGCGAGTCCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02258.hp2 others(11): Show HG01884.hp1 HG01891.hp1 HG02258.hp2 HG02622.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0052 a0001c0001t0003g0251 a0001c0001t0003g0252 others(10): Show a0001c0001t0003g0052 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0002c0002t0003g0254	14	414	0.0338	-25	c.-13 others(34): Show c.-137_-113delGGGGACTCGCCGCAGATCCGCTGTA	MTIF3	ENSG00000122033.15	transcript	ENST00000381120.8	protein_coding	1/5	10103		chr13	TogoVar
MTMR8_chrX_64263081_64400452	64287999	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01169.hp2 others(11): Show HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02717.hp1 HG02922.hp2 HG03041.hp1 NA18906.hp1 NA18952.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0145 a0001c0001t0001g0150 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184	14	190	0.0737	-25	c.148 others(46): Show c.1482-16951_1482-16927delTTTTTTTTTTTTTTTTTTTTTTTT T	MTMR8	ENSG00000102043.16	transcript	ENST00000374852.4	protein_coding	12/13			chrX	TogoVar
MTRES1_chr6_107023199_107056586	107035037	CTGTGCCA others(18): Show CTGTGCCACTTAGCGTATTCTTAAAT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	406	0.0025	-25	c.-12 others(42): Show c.-12-4709_-12-4685delTGCCACTTAGCGTATTCTTAAATTG	MTRES1	ENSG00000130349.10	transcript	ENST00000311381.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTRR_chr5_7864148_7906113	7887805	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0005 a0009c0008t0005	a0009c0008t0005g0242 a0009c0008t0005g0242	1	428	0.0023	-25	c.114 others(44): Show c.1146+1103_1146+1127delATATATATATATATATATATATATA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding	8/14			chr5	TogoVar
MTSS2_chr16_70656204_70691053	70660839	GGCCCAGC others(18): Show GGCCCAGCCCAGCCCAGCCCAGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03927.hp2 HG03831.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0002t0137 a0001c0001t0055 a0001c0002t0137	a0001c0001t0055g0027 a0001c0002t0137g0346 a0001c0001t0055g0027 a0001c0002t0137g0346	2	398	0.0050	-25	c.28 others(36): Show c.2813_*2837delTGGGCTGGGCTGGGCTGGGCTGGGC	MTSS2	ENSG00000132613.16	transcript	ENST00000338779.11	protein_coding		364		chr16	TogoVar
MTTP_chr4_99569824_99628997	99604615	TTTTACTT others(18): Show TTTTACTTCTTATTACTTGAGTGCCA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	364	0.0028	-25	c.134 others(44): Show c.1345-2130_1345-2106delTACTTCTTATTACTTGAGTGCCATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTUS1_chr8_17638802_17806094	17649422	GCTATTCA others(18): Show GCTATTCATTTCTATTAAATTCATTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0004 a0001c0076t0004	a0001c0076t0004g0323 a0001c0076t0004g0323	1	330	0.0030	-25	c.350 others(42): Show c.3501+399_3501+423delAAATGAATTTAATAGAAATGAATAG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	13/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29003263	TACTATCA others(18): Show TACTATCATTGTTCCCATTTTACAGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG03225.hp2 HG02970.hp1 HG03195.hp2 HG03225.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0020 a0001c0001 a0002c0002 a0004c0020	a0001c0001t0003 a0002c0002t0004 a0004c0020t0001 a0001c0001t0003 a0002c0002t0004 a0004c0020t0001	a0001c0001t0003g0038 a0002c0002t0004g0039 a0004c0020t0001g0017 a0001c0001t0003g0038 a0002c0002t0004g0039 a0004c0020t0001g0017	3	92	0.0326	-25	c.-24 others(46): Show c.-242-21193_-242-21169delACTATCATTGTTCCCATTTTACAG A	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	2/15			chr13	TogoVar
MUC20_chr3_195715978_195738551	195731975	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00639.hp2 others(79): Show HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03453.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(19): Show a0001 a0002 a0008 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0022 a0023 a0024 a0026 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0038	a0001c0001 a0001c0004 a0001c0058 others(25): Show a0001c0001 a0001c0004 a0001c0058 a0001c0060 a0001c0067 a0001c0069 a0002c0003 a0008c0011 a0012c0015 a0013c0038 a0013c0039 a0014c0023 a0015c0020 a0016c0021 a0017c0022 a0019c0018 a0022c0040 a0023c0037 a0024c0036 a0026c0065 a0028c0064 a0029c0066 a0031c0053 a0032c0062 a0033c0059 a0034c0061 a0035c0063 a0038c0056	a0001c0001t0001 a0001c0004t0001 a0001c0058t0001 others(25): Show a0001c0001t0001 a0001c0004t0001 a0001c0058t0001 a0001c0060t0001 a0001c0067t0001 a0001c0069t0001 a0002c0003t0001 a0008c0011t0001 a0012c0015t0001 a0013c0038t0001 a0013c0039t0001 a0014c0023t0001 a0015c0020t0001 a0016c0021t0001 a0017c0022t0001 a0019c0018t0001 a0022c0040t0001 a0023c0037t0001 a0024c0036t0001 a0026c0065t0001 a0028c0064t0001 a0029c0066t0001 a0031c0053t0001 a0032c0062t0001 a0033c0059t0001 a0034c0061t0001 a0035c0063t0001 a0038c0056t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0004t0001g0007 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0058 a0001c0004t0001g0079 a0001c0004t0001g0087 a0001c0058t0001g0066 a0001c0060t0001g0007 a0001c0067t0001g0006 a0001c0069t0001g0057 a0002c0003t0001g0005 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0076 a0002c0003t0001g0085 a0002c0003t0001g0093 a0008c0011t0001g0005 a0008c0011t0001g0038 a0008c0011t0001g0064 a0008c0011t0001g0089 a0012c0015t0001g0013 a0012c0015t0001g0034 a0013c0038t0001g0035 a0013c0039t0001g0013 a0014c0023t0001g0049 a0014c0023t0001g0088 a0015c0020t0001g0015 a0016c0021t0001g0006 a0017c0022t0001g0081 a0017c0022t0001g0082 a0019c0018t0001g0063 a0019c0018t0001g0078 a0022c0040t0001g0036 a0023c0037t0001g0044 a0024c0036t0001g0080 a0026c0065t0001g0048 a0028c0064t0001g0084 a0029c0066t0001g0002 a0031c0053t0001g0005 a0032c0062t0001g0068 a0033c0059t0001g0016 a0034c0061t0001g0005 a0035c0063t0001g0007 a0038c0056t0001g0065	82	185	0.4432	-25	c.206 others(44): Show c.2062-1155_2062-1131delGTTTTGTTTTGTTTTGTTTTGTTTT	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUSK_chr9_110663791_110811558	110689676	TATATAAC others(18): Show TATATAACTATATATAGTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 HG02965.hp1 others(1): Show HG01255.hp2 HG02559.hp2 HG02965.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0027 a0001c0010 a0002c0027	a0001c0010t0006 a0002c0027t0005 a0001c0010t0006 a0002c0027t0005	a0001c0010t0006g0131 a0001c0010t0006g0132 a0001c0010t0006g0133 others(1): Show a0001c0010t0006g0131 a0001c0010t0006g0132 a0001c0010t0006g0133 a0002c0027t0005g0130	4	326	0.0123	-25	c.358 others(42): Show c.358+2410_358+2434delTATAACTATATATAGTTATATATAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701674	TATTTTTT others(18): Show TATTTTTTTTACTTTACTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0121 a0002c0004t0005g0121	1	326	0.0031	-25	c.628 others(42): Show c.628+4209_628+4233delATTTTTTTTACTTTACTTTATTTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14			chr9	TogoVar
MUSK_chr9_110663791_110811558	110701685	CTTTACTT others(18): Show CTTTACTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0289 a0001c0001t0020g0289	1	326	0.0031	-25	c.628 others(42): Show c.628+4224_628+4248delCTTTATTTTATTTTATTTTATTTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVD_chr16_88646940_88668091	88667052	CTCCGCCT others(18): Show CTCCGCCTCCCAGGCTCACTGCAACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02965.hp1 HG02615.hp2 HG02630.hp1 HG02965.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0003 a0006c0007t0001 a0001c0002t0003 a0006c0007t0001	a0001c0002t0003g0021 a0006c0007t0001g0223 a0001c0002t0003g0021 a0006c0007t0001g0223	3	434	0.0069	-25	c.-39 others(36): Show c.-3997_-3973delCGTTGCAGTGAGCCTGGGAGGCGGA	MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding		3962		chr16	TogoVar
MXD3_chr5_177302210_177316898	177314936	AGGGGAGC others(18): Show AGGGGAGCCAATCCTGGGCTCACCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	404	0.0025	-25	c.-31 others(36): Show c.-3131_-3107delACGGTGAGCCCAGGATTGGCTCCCC	MXD3	ENSG00000213347.11	transcript	ENST00000439742.7	protein_coding		3039		chr5	TogoVar
MYADM_chr19_53862883_53881435	53878633	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	378	0.0027	-25	c.41 others(36): Show c.4136_*4160delAAAAAAAAAAAAAAAAAATATATAT	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		2199		chr19	TogoVar
MYADM_chr19_53862883_53881435	53878635	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0031 a0001c0001t0018g0031	1	378	0.0027	-25	c.41 others(36): Show c.4138_*4162delAAAAAAAAAAAAAAAATATATATAT	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		2201		chr19	TogoVar
MYADM_chr19_53862883_53881435	53878651	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0023 a0001c0001t0022g0023	1	378	0.0027	-25	c.41 others(36): Show c.4154_*4178delTATATATATATATATATATATATAT	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		2217		chr19	TogoVar
MYBPHL_chr1_109287365_109312011	109300735	AGAGAGCA others(18): Show AGAGAGCAAGGAAGGAGGCTGCCCGC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG02976.hp1 others(3): Show HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0001c0002t0003 a0002c0003t0003	a0001c0002t0003g0145 a0001c0002t0003g0146 a0002c0003t0003g0045 others(1): Show a0001c0002t0003g0145 a0001c0002t0003g0146 a0002c0003t0003g0045 a0002c0003t0003g0046	6	436	0.0138	-25	c.146 others(42): Show c.146-2503_146-2479delGCGGGCAGCCTCCTTCCTTGCTCTC	MYBPHL	ENSG00000221986.7	transcript	ENST00000357155.2	protein_coding	1/8			chr1	TogoVar
MYCBP2_chr13_77039657_77332094	77285874	GAAAGGAA others(18): Show GAAAGGAAAGGAAAGGAAAGGAAAGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0291 a0001c0036t0001g0291	1	334	0.0030	-25	c.594 others(42): Show c.594+2262_594+2286delGCTTTCCTTTCCTTTCCTTTCCTTT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	3/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77317938	AAACATAA others(18): Show AAACATAACATAACATAACATAACAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0001 a0002c0040t0001	a0002c0040t0001g0297 a0002c0040t0001g0297	1	334	0.0030	-25	c.302 others(42): Show c.302+8511_302+8535delATGTTATGTTATGTTATGTTATGTT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	1/82			chr13	TogoVar
MYCT1_chr6_152692897_152729569	152703940	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp2 HG03688.hp1 HG02717.hp1 HG03516.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0162 a0001c0001t0003g0036 a0001c0001t0009g0036 a0001c0001t0001g0162 a0001c0001t0003g0036 a0001c0001t0009g0036	3	444	0.0068	-25	c.196 others(42): Show c.196+5892_196+5916delATTTTATTTTATTTTATTTTATTTT	MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYH11_chr16_15698135_15862028	15775413	TTGGTTTA others(18): Show TTGGTTTATGTGTTGCCTGAGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(165): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18981.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0015 a0016	a0001c0002 a0001c0003 a0001c0005 others(30): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0022 a0001c0024 a0001c0025 a0001c0031 a0001c0034 a0001c0044 a0001c0051 a0001c0052 a0001c0056 a0001c0062 a0002c0001 a0002c0019 a0002c0023 a0002c0030 a0003c0021 a0003c0042 a0004c0017 a0004c0060 a0005c0026 a0015c0036 a0016c0037	a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 others(36): Show a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0009 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0006t0004 a0001c0008t0001 a0001c0009t0001 a0001c0009t0004 a0001c0010t0001 a0001c0011t0001 a0001c0011t0010 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001 a0001c0018t0001 a0001c0022t0001 a0001c0024t0001 a0001c0025t0001 a0001c0031t0001 a0001c0034t0001 a0001c0044t0001 a0001c0051t0001 a0001c0052t0001 a0001c0056t0001 a0001c0062t0001 a0002c0001t0001 a0002c0019t0001 a0002c0023t0001 a0002c0030t0001 a0003c0021t0001 a0003c0042t0001 a0004c0017t0005 a0004c0060t0005 a0005c0026t0001 a0015c0036t0001 a0016c0037t0001	a0001c0002t0001g0028 a0001c0002t0001g0114 a0001c0002t0001g0120 others(165): Show a0001c0002t0001g0028 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0133 a0001c0002t0001g0166 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0213 a0001c0002t0001g0270 a0001c0002t0008g0251 a0001c0003t0001g0055 a0001c0003t0001g0063 a0001c0003t0001g0082 a0001c0003t0001g0110 a0001c0003t0001g0143 a0001c0003t0001g0245 a0001c0003t0009g0009 a0001c0005t0001g0014 a0001c0005t0001g0046 a0001c0005t0001g0048 a0001c0005t0001g0109 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0142 a0001c0005t0001g0148 a0001c0005t0001g0155 a0001c0005t0001g0157 a0001c0005t0001g0176 a0001c0005t0001g0183 a0001c0005t0001g0209 a0001c0005t0001g0288 a0001c0005t0004g0001 a0001c0005t0004g0006 a0001c0006t0001g0040 a0001c0006t0001g0044 a0001c0006t0001g0068 a0001c0006t0001g0079 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0111 a0001c0006t0001g0136 a0001c0006t0001g0141 a0001c0006t0001g0158 a0001c0006t0001g0233 a0001c0006t0004g0003 a0001c0006t0004g0005 a0001c0008t0001g0242 a0001c0009t0001g0081 a0001c0009t0001g0172 a0001c0009t0001g0222 a0001c0009t0001g0225 a0001c0009t0001g0241 a0001c0009t0001g0250 a0001c0009t0001g0272 a0001c0009t0001g0283 a0001c0009t0001g0290 a0001c0009t0004g0007 a0001c0010t0001g0010 a0001c0010t0001g0236 a0001c0010t0001g0257 a0001c0010t0001g0263 a0001c0010t0001g0273 a0001c0010t0001g0277 a0001c0011t0001g0031 a0001c0011t0001g0061 a0001c0011t0001g0134 a0001c0011t0001g0174 a0001c0011t0001g0204 a0001c0011t0001g0217 a0001c0011t0010g0126 a0001c0012t0001g0042 a0001c0012t0001g0043 a0001c0012t0001g0087 a0001c0012t0001g0088 a0001c0013t0001g0159 a0001c0015t0001g0020 a0001c0015t0001g0093 a0001c0015t0001g0127 a0001c0015t0001g0149 a0001c0015t0001g0280 a0001c0018t0001g0144 a0001c0018t0001g0145 a0001c0018t0001g0146 a0001c0022t0001g0186 a0001c0022t0001g0188 a0001c0022t0001g0189 a0001c0024t0001g0170 a0001c0024t0001g0268 a0001c0025t0001g0066 a0001c0025t0001g0164 a0001c0031t0001g0169 a0001c0031t0001g0187 a0001c0034t0001g0078 a0001c0044t0001g0049 a0001c0051t0001g0017 a0001c0052t0001g0156 a0001c0056t0001g0062 a0001c0062t0001g0163 a0002c0001t0001g0019 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0037 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0065 a0002c0001t0001g0076 a0002c0001t0001g0085 a0002c0001t0001g0096 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0104 a0002c0001t0001g0107 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0129 a0002c0001t0001g0135 a0002c0001t0001g0138 a0002c0001t0001g0147 a0002c0001t0001g0161 a0002c0001t0001g0165 a0002c0001t0001g0184 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0201 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0224 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0238 a0002c0001t0001g0244 a0002c0001t0001g0247 a0002c0001t0001g0253 a0002c0001t0001g0259 a0002c0001t0001g0262 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0269 a0002c0001t0001g0276 a0002c0001t0001g0281 a0002c0001t0001g0285 a0002c0019t0001g0041 a0002c0019t0001g0053 a0002c0019t0001g0246 a0002c0023t0001g0054 a0002c0023t0001g0115 a0002c0030t0001g0152 a0002c0030t0001g0180 a0003c0021t0001g0052 a0003c0021t0001g0173 a0003c0021t0001g0234 a0003c0042t0001g0070 a0004c0017t0005g0137 a0004c0017t0005g0151 a0004c0017t0005g0220 a0004c0060t0005g0168 a0005c0026t0001g0216 a0005c0026t0001g0218 a0015c0036t0001g0237 a0016c0037t0001g0294	168	297	0.5657	-25	c.889 others(40): Show c.889+640_889+664delGTGAGCTCAGGCAACACATAAACCA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	8/40			chr16	TogoVar
MYH13_chr17_10295865_10378006	10300405	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0342 a0007c0020t0001g0342	1	382	0.0026	-25	c.52 others(34): Show c.521_*545delTTTTTTTTTTTTTTTTTTTTTTTTT	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding		459		chr17	TogoVar
MYH15_chr3_108375368_108515596	108427612	CACACAAC others(18): Show CACACAACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	306	0.0033	-25	c.370 others(42): Show c.3702+855_3702+879delCTGTGTGTGTGTGTGTGTGTTGTGT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	27/40			chr3	TogoVar
MYH9_chr22_36276280_36392967	36384606	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG02735.hp2 HG00280.hp1 HG00323.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0003t0003g0191 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0003t0003g0191	3	242	0.0124	-25	c.-20 others(42): Show c.-20+3176_-20+3200delATATATATATATATATATATTTTTT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40			chr22	TogoVar
MYH9_chr22_36276280_36392967	36384608	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01433.hp1 others(2): Show HG01081.hp2 HG01106.hp1 HG01433.hp1 HG03654.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0026 a0001c0003 a0002c0002 a0003c0026	a0001c0003t0003 a0002c0002t0003 a0003c0026t0002 a0001c0003t0003 a0002c0002t0003 a0003c0026t0002	a0001c0003t0003g0020 a0002c0002t0003g0193 a0002c0002t0003g0195 others(2): Show a0001c0003t0003g0020 a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0003g0196 a0003c0026t0002g0194	5	242	0.0207	-25	c.-20 others(42): Show c.-20+3174_-20+3198delATATATATATATATATATATATTTT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40			chr22	TogoVar
MYLK_chr3_123605049_123889332	123607912	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0012 a0005c0016t0012	a0005c0016t0012g0119 a0005c0016t0012g0119	1	156	0.0064	-25	c.61 others(36): Show c.6168_*6192delTATATATATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2136		chr3	TogoVar
MYLK_chr3_123605049_123889332	123607914	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0081 a0007c0081	a0007c0081t0044 a0007c0081t0044	a0007c0081t0044g0125 a0007c0081t0044g0125	1	156	0.0064	-25	c.61 others(36): Show c.6166_*6190delTATATATATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2134		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770573	TATATAAA others(18): Show TATATAAAAATTTATATTTATATATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA19030.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0091 a0001c0001t0002g0102	2	350	0.0057	-25	c.-29 others(36): Show c.-2920_-2896delATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2822		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 4527 hits)