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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MRPS18A_chr6_43666202_43692791	43689534	CAGGATCA others(31): Show CAGGATCAAGAAAGCTTTGACTCTCCCTATAGCTTCCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	380	0.0026	-38	c.-17 others(49): Show c.-1793_-1756delTTGGAAGCTATAGGGAGAGTCAAAGCTTTCTTGA TCCT		MRPS18A	ENSG00000096080.12	transcript	ENST00000372133.8	protein_coding					1744		chr6	TogoVar
MRPS28_chr8_79913717_80035259	80008336	GCAATACC others(31): Show GCAATACCATACAGGACAAAGGCATGGGCAAGGACTTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02040.hp2 others(21): Show HG01109.hp2 HG01496.hp2 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02717.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03831.hp1 NA18941.hp2 NA18942.hp1 NA18970.hp1 NA18975.hp2 NA18983.hp1 NA18989.hp1 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 others(21): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0006g0006	24	300	0.0800	-38	c.214 others(55): Show c.214-5194_214-5157delTGAAGTCCTTGCCCATGCCTTTGTCCTG TATGGTATTG		MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2						chr8	TogoVar
MRPS35_chr12_27705832_27761295	27732987	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG01981.hp2 others(6): Show HG00735.hp2 HG01361.hp1 HG01981.hp2 NA18943.hp2 NA18949.hp2 NA18953.hp2 NA19005.hp1 NA19068.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0001g0222 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0006g0285	9	358	0.0251	-38	c.523 others(55): Show c.523-2443_523-2406delATATATATATATATATATATATATATAT ATATATATAT		MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
MSLN_chr16_755734_773862	767782	AGCGTGGG others(31): Show AGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	388	0.0026	-38	c.159 others(55): Show c.1596+323_1596+360delCGTGGAGGAGGGGCGCGTGGAGGGGGGC GCGTGGGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16139762	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 NA20300.hp2 HG02258.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0042 a0001c0001t0005 a0001c0001t0018 a0001c0001t0042	a0001c0001t0005g0086 a0001c0001t0018g0088 a0001c0001t0042g0053 a0001c0001t0005g0086 a0001c0001t0018g0088 a0001c0001t0042g0053	3	330	0.0091	-38	c.103 others(57): Show c.1033+3758_1033+3795delATATATATATATATATATATATATAT TTTTTTTTTTTT		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	8/9						chr8	TogoVar
MT2A_chr16_56603584_56614497	56612147	CAGTGGGG others(31): Show CAGTGGGGTGATCTCAGCTCACTGCAACCTGCACCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	458	0.0022	-38	c.27 others(49): Show c.2794_*2831delAGTGGGGTGATCTCAGCTCACTGCAACCTGCACC TCCT		MT2A	ENSG00000125148.7	transcript	ENST00000245185.6	protein_coding					2651		chr16	TogoVar
MT4_chr16_56560073_56573957	56568233	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03139.hp1 HG03139.hp2 others(2): Show HG02683.hp1 HG03139.hp1 HG03139.hp2 HG03704.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0222	5	428	0.0117	-38	c.97+ others(51): Show c.97+445_97+482delGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105455954	ACTGTGCT others(31): Show ACTGTGCTGAGGCCTGTGGGTCTGAGTGTGGAGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0044 a0001c0017t0001g0044	1	304	0.0033	-38	c.550 others(55): Show c.550+1682_550+1719delGCTGTGCTGAGGCCTGTGGGTCTGAGTG TGGAGAGGCC		MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
MTCH1_chr6_36963141_36991196	36986674	CCCAGCCT others(31): Show CCCAGCCTCTTTGTCCGATCGCATTTTCCATCTCCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	414	0.0024	-38	c.-53 others(47): Show c.-539_-502delCAGAGGAGATGGAAAATGCGATCGGACAAAGAGGCT GG		MTCH1	ENSG00000137409.21	transcript	ENST00000373627.10	protein_coding					479		chr6	TogoVar
MTDH_chr8_97639184_97735260	97697366	AATATTAT others(31): Show AATATTATTATTTCGGTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0119 a0001c0001t0016g0119	1	370	0.0027	-38	c.104 others(57): Show c.1049-2387_1049-2350delATATTATTATTTCGGTTTTTTTTTTT TTTTTTTTTTTT		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11						chr8	TogoVar
MTG2_chr20_62178028_62208568	62204369	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG03654.hp1 NA19056.hp1 others(1): Show HG02148.hp2 HG03654.hp1 NA19056.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0004 a0010c0013t0028 a0001c0001t0004 a0010c0013t0028	a0001c0001t0004g0092 a0001c0001t0004g0294 a0001c0001t0004g0296 others(1): Show a0001c0001t0004g0092 a0001c0001t0004g0294 a0001c0001t0004g0296 a0010c0013t0028g0203	4	412	0.0097	-38	c.32 others(49): Show c.3293_*3330delGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA GAGA		MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding					802		chr20	TogoVar
MTHFD1_chr14_64383353_64465025	64397132	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	342	0.0029	-38	c.42- others(53): Show c.42-3659_42-3622delAAAAAATATATATATATATATATATATATA TATATATA		MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr14	TogoVar
MTIF2_chr2_55231595_55274231	55272819	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0046 a0002c0002t0001g0047	2	384	0.0052	-38	c.-39 others(49): Show c.-3925_-3888delTATATATATATATATATATATATATATATATATA TAAA		MTIF2	ENSG00000085760.15	transcript	ENST00000263629.9	protein_coding					3589		chr2	TogoVar
MTIF2_chr2_55231595_55274231	55272821	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02257.hp2 others(24): Show HG01109.hp1 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0005c0007 a0005c0014	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0005c0007t0001 a0005c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0049 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0011t0001g0054 a0002c0002t0001g0048 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0101 a0005c0007t0001g0063 a0005c0014t0001g0066	27	384	0.0703	-38	c.-39 others(49): Show c.-3927_-3890delTATATATATATATATATATATATATATATATATA TATA		MTIF2	ENSG00000085760.15	transcript	ENST00000263629.9	protein_coding					3591		chr2	TogoVar
MTM1_chrX_150563621_150678143	150583543	TTATACAT others(31): Show TTATACATAATTTATATATAATATATAATTTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00639.hp2 others(43): Show HG00423.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp1 HG01256.hp1 HG01496.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp2 NA18906.hp2 NA18956.hp1 NA18959.hp1 NA19003.hp2 NA19030.hp2 NA19068.hp1 NA19078.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 others(42): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0111 a0001c0001t0003g0112	46	277	0.1661	-38	c.-10 others(55): Show c.-10-9057_-10-9020delCATAATTTATATATAATATATAATTTAT ATATAATATA		MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR9_chr8_11279816_11333146	11325408	AAACACTT others(31): Show AAACACTTGAATGAAGAGAATGGTGGCAGAATGAGTGAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0162 a0001c0002t0067g0162	1	348	0.0029	-38	c.26 others(49): Show c.2621_*2658delAACACTTGAATGAAGAGAATGGTGGCAGAATGAG TGAG		MTMR9	ENSG00000104643.10	transcript	ENST00000221086.8	protein_coding	10/10				2621		chr8	TogoVar
MTRR_chr5_7864148_7906113	7866562	CATATTGC others(31): Show CATATTGCCTTTATATGTGACTTGAAACCACTGCCAGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0230 a0007c0007t0001g0230	1	428	0.0023	-38	c.-26 others(49): Show c.-2678_-2641delATATTGCCTTTATATGTGACTTGAAACCACTGCC AGTT		MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding					2585		chr5	TogoVar
MTUS2_chr13_28815339_29510947	29389717	ATACATAC others(31): Show ATACATACATATGTGTGTATATGTATATACATACATATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0015 a0014c0018t0015	a0014c0018t0015g0027 a0014c0018t0015g0027	1	92	0.0109	-38	c.311 others(59): Show c.3117+30246_3117+30283delACATACATATGTGTGTATATGTAT ATACATACATATGT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29389967	GTATATAC others(31): Show GTATATACACATACATGTATGTGTATGTATGTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0023 a0002c0011t0023	a0002c0011t0023g0041 a0002c0011t0023g0041	1	92	0.0109	-38	c.311 others(59): Show c.3117+30548_3117+30585delGTATGTGTATGTATGTATGTGTAT ATATACACATACAT		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC15_chr11_26554032_26577263	26564696	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0101 a0002c0001t0002g0101	1	466	0.0022	-38	c.775 others(53): Show c.775+431_775+468delATGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564720	CACACACA others(31): Show CACACACACACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp1 NA19030.hp1 others(2): Show HG02602.hp2 HG04204.hp1 NA19030.hp1 NA19083.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0006 a0001c0003t0006 a0001c0004t0006	a0001c0003t0006g0079 a0001c0004t0006g0219 a0001c0004t0006g0310 others(2): Show a0001c0003t0006g0079 a0001c0004t0006g0219 a0001c0004t0006g0310 a0001c0004t0006g0311 a0001c0004t0006g0312	5	466	0.0107	-38	c.775 others(53): Show c.775+407_775+444delATATATATATATATATATATATATATGTGT GTGTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC15_chr11_26554032_26577263	26564722	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02523.hp1 HG02630.hp1 others(3): Show HG00639.hp2 HG02523.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp1 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0019 a0001c0003t0001 a0001c0003t0006 a0001c0003t0019	a0001c0003t0001g0191 a0001c0003t0006g0173 a0001c0003t0006g0190 others(3): Show a0001c0003t0001g0191 a0001c0003t0006g0173 a0001c0003t0006g0190 a0001c0003t0006g0192 a0001c0003t0006g0389 a0001c0003t0019g0252	6	466	0.0129	-38	c.775 others(53): Show c.775+405_775+442delATATATATATATATATATATATATATATGT GTGTGTGT		MUC15	ENSG00000169550.14	transcript	ENST00000529533.6	protein_coding	3/4						chr11	TogoVar
MUC20_chr3_195715978_195738551	195727928	CTGATGCC others(31): Show CTGATGCCAGGCAGTGTGCCACCAGCTTTGCATATGTTA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0040 a0041 a0040 a0041	a0040c0045 a0041c0046 a0040c0045 a0041c0046	a0040c0045t0005 a0041c0046t0005 a0040c0045t0005 a0041c0046t0005	a0040c0045t0005g0094 a0041c0046t0005g0095 a0040c0045t0005g0094 a0041c0046t0005g0095	2	185	0.0108	-38	c.196 others(57): Show c.1969+1396_1969+1433delGATGCCAGGCAGTGTGCCACCAGCTT TGCATATGTTAT		MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC4_chr3_195741771_195816929	195760545	GGTCCAGC others(31): Show GGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0104 a0104	a0104c0030 a0104c0030	a0104c0030t0005 a0104c0030t0005	a0104c0030t0005g0232 a0104c0030t0005g0232	1	249	0.0040	-38	c.148 others(57): Show c.14848+301_14848+338delGCCTTCCCAGCCCCCTCCACTCCATC CTAGCGCTGGAC		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760558	GATGGAGT others(31): Show GATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0080 a0080	a0080c0170 a0080c0170	a0080c0170t0005 a0080c0170t0005	a0080c0170t0005g0240 a0080c0170t0005g0240	1	249	0.0040	-38	c.148 others(57): Show c.14848+288_14848+325delACTAGCGCTGGACGCCTTCCCAGCCC CCTCCACTCCAT		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760584	GTCCAGCG others(31): Show GTCCAGCGCTAGTATGGAGTGAAGGGGGCTGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG01891.hp2 HG02976.hp2	a0061 a0062 a0061 a0062	a0061c0198 a0062c0197 a0061c0198 a0062c0197	a0061c0198t0008 a0062c0197t0009 a0061c0198t0008 a0062c0197t0009	a0061c0198t0008g0222 a0062c0197t0009g0243 a0061c0198t0008g0222 a0062c0197t0009g0243	2	249	0.0080	-38	c.148 others(57): Show c.14848+262_14848+299delTGCCTTCCCAGCCCCCTTCACTCCAT ACTAGCGCTGGA		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MVD_chr16_88646940_88668091	88659183	AAACGTTT others(31): Show AAACGTTTGCCCTGGGAGCGCTGCGTGGTGCTTCAGCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	434	0.0023	-38	c.71- others(51): Show c.71-501_71-464delCAGCTGAAGCACCACGCAGCGCTCCCAGGGCA AACGTT		MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding	1/9						chr16	TogoVar
MVD_chr16_88646940_88668091	88663757	GGCTGAGG others(31): Show GGCTGAGGGGAGGGCGGGTCGCGCTGTGCCCTCCTTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	434	0.0023	-38	c.-71 others(47): Show c.-715_-678delTTCAAGGAGGGCACAGCGCGACCCGCCCTCCCCTCA GC		MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding					667		chr16	TogoVar
MVD_chr16_88646940_88668091	88664512	AAGTTGCA others(31): Show AAGTTGCAGTGAGCCGAGATGGTGCTGCTGTACTCCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	434	0.0023	-38	c.-14 others(49): Show c.-1470_-1433delGCTGGAGTACAGCAGCACCATCTCGGCTCACTGC AACT		MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding					1422		chr16	TogoVar
MVD_chr16_88646940_88668091	88664679	ACCATCAT others(31): Show ACCATCATACTTATAAATTCTTTATTTTTTTCCAGAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	434	0.0023	-38	c.-16 others(49): Show c.-1637_-1600delATTTCTGGAAAAAAATAAAGAATTTATAAGTATG ATGG		MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding					1589		chr16	TogoVar
MVD_chr16_88646940_88668091	88664901	AGATGTGG others(31): Show AGATGTGGGGGGGTCTTGCTATGTTGCCCAGGCTGATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	434	0.0023	-38	c.-18 others(49): Show c.-1859_-1822delAAATCAGCCTGGGCAACATAGCAAGACCCCCCCA CATC		MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding					1811		chr16	TogoVar
MXRA7_chr17_76674566_76715965	76689420	GCTGCCTG others(31): Show GCTGCCTGGGGGGAGCTGCGCAGGCAACACAGCGTCTTC	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	416	0.0024	-38	c.343 others(55): Show c.343-1282_343-1245delGAAGACGCTGTGTTGCCTGCGCAGCTCC CCCCAGGCAG		MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3						chr17	TogoVar
MYBPC2_chr19_50427892_50471321	50435046	CCTGGACT others(31): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18959.hp2 NA18973.hp1 NA18954.hp1 NA18959.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059	3	396	0.0076	-38	c.20- others(50): Show c.20-103_20-66delGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGAC TCCTG		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBPC2_chr19_50427892_50471321	50467402	CCTCCCTC others(31): Show CCTCCCTCAGACCCAGGAGTCCAGGACCCCAGCCCTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0296 a0001c0027t0001g0296	1	396	0.0025	-38	c.11 others(49): Show c.1198_*1235delCTCCCTCAGACCCAGGAGTCCAGGACCCCAGCCC TCAT		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding					1082		chr19	TogoVar
MYH15_chr3_108375368_108515596	108507226	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0090 a0016c0025t0001g0090	1	306	0.0033	-38	c.89- others(53): Show c.89-1435_89-1398delATATATATATATATATATATATATATATAT ATATATAT		MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	1/40						chr3	TogoVar
MYL11_chr16_30369802_30382991	30376163	CAGAACCG others(31): Show CAGAACCGTGATGGTATTATAGACAAGGAGGACCTTCGG	C C	frameshift_variant frameshift_variant	HIGH	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	304	0.0033	-38	c.116 others(45): Show c.116_153delAGAACCGTGATGGTATTATAGACAAGGAGGACCTTCGG	p.Gln others(4): Show p.Gln39fs	MYL11	ENSG00000180209.12	transcript	ENST00000322861.12	protein_coding	3/7	172/657	116/510	39/169			chr16	TogoVar
MYLK_chr3_123605049_123889332	123827694	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 NA20300.hp1 HG03453.hp1 NA18522.hp2 NA20300.hp1	a0004 a0037 a0038 a0004 a0037 a0038	a0004c0018 a0037c0058 a0038c0085 a0004c0018 a0037c0058 a0038c0085	a0004c0018t0020 a0037c0058t0002 a0038c0085t0011 a0004c0018t0020 a0037c0058t0002 a0038c0085t0011	a0004c0018t0020g0044 a0037c0058t0002g0043 a0038c0085t0011g0045 a0004c0018t0020g0044 a0037c0058t0002g0043 a0038c0085t0011g0045	3	156	0.0192	-38	c.-4+ others(53): Show c.-4+3816_-4+3853delATATATATATATATATATATATATATATAT ATATATAT		MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	3/33						chr3	TogoVar
MYO16_chr13_108624611_109213005	108997314	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01169.hp2 others(9): Show HG00673.hp2 HG00741.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01952.hp1 HG02257.hp1 HG03669.hp1 NA18969.hp2 NA18995.hp1 NA19074.hp2 NA20752.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0030	a0001c0002 a0001c0007 a0001c0016 others(5): Show a0001c0002 a0001c0007 a0001c0016 a0003c0004 a0003c0042 a0003c0044 a0015c0011 a0030c0055	a0001c0002t0005 a0001c0002t0012 a0001c0007t0001 others(7): Show a0001c0002t0005 a0001c0002t0012 a0001c0007t0001 a0001c0007t0006 a0001c0016t0001 a0003c0004t0002 a0003c0042t0011 a0003c0044t0002 a0015c0011t0001 a0030c0055t0002	a0001c0002t0005g0077 a0001c0002t0012g0041 a0001c0007t0001g0010 others(9): Show a0001c0002t0005g0077 a0001c0002t0012g0041 a0001c0007t0001g0010 a0001c0007t0006g0055 a0001c0007t0006g0056 a0001c0016t0001g0061 a0003c0004t0002g0086 a0003c0004t0002g0098 a0003c0042t0011g0113 a0003c0044t0002g0148 a0015c0011t0001g0104 a0030c0055t0002g0022	12	152	0.0790	-38	c.244 others(57): Show c.2442+4870_2442+4907delAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGA		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1C_chr17_1459186_1497686	1482635	GCCCCTCC others(31): Show GCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01099.hp1 others(9): Show HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01099.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp2 HG02004.hp2 NA18612.hp2 NA18944.hp2 NA18983.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0006 a0002c0002t0013 a0003c0004t0013 others(1): Show a0001c0001t0006 a0002c0002t0013 a0003c0004t0013 a0004c0005t0006	a0001c0001t0006g0402 a0001c0001t0006g0407 a0002c0002t0013g0404 others(8): Show a0001c0001t0006g0402 a0001c0001t0006g0407 a0002c0002t0013g0404 a0002c0002t0013g0406 a0003c0004t0013g0403 a0004c0005t0006g0013 a0004c0005t0006g0405 a0004c0005t0006g0408 a0004c0005t0006g0410 a0004c0005t0006g0412 a0004c0005t0006g0413	12	430	0.0279	-38	c.547 others(52): Show c.547-115_547-78delAGGGGCAGGGAGAGAAGCCCAGTGCGGGAGG GGAGGGG		MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31						chr17	TogoVar
MYO1F_chr19_8515778_8582442	8574557	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19057.hp1 NA18975.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0003 a0001c0001t0001 a0002c0005t0003	a0001c0001t0001g0155 a0002c0005t0003g0283 a0001c0001t0001g0155 a0002c0005t0003g0283	2	342	0.0059	-38	c.3+2 others(51): Show c.3+2712_3+2749delGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27						chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574585	CTCTCTCT others(31): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0276 a0001c0002t0001g0268 a0001c0001t0005g0276 a0001c0002t0001g0268	2	342	0.0059	-38	c.3+2 others(51): Show c.3+2684_3+2721delAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27						chr19	TogoVar
MYO3A_chr10_25929229_26217532	26073542	GAGATTGC others(31): Show GAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(96): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA18962.hp2 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18988.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(7): Show a0001 a0004 a0006 a0010 a0013 a0018 a0020 a0021 a0022 a0023	a0001c0001 a0001c0025 a0001c0038 others(12): Show a0001c0001 a0001c0025 a0001c0038 a0004c0005 a0004c0008 a0004c0017 a0006c0006 a0010c0011 a0013c0023 a0013c0039 a0018c0044 a0020c0043 a0021c0024 a0022c0040 a0023c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0025t0002 a0001c0038t0017 a0004c0005t0002 a0004c0005t0006 a0004c0008t0007 a0004c0008t0010 a0004c0017t0011 a0006c0006t0001 a0010c0011t0002 a0013c0023t0003 a0013c0039t0015 a0018c0044t0004 a0020c0043t0007 a0021c0024t0001 a0022c0040t0013 a0023c0037t0001	a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0114 others(96): Show a0001c0001t0001g0003 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0003g0143 a0001c0001t0004g0131 a0001c0025t0002g0140 a0001c0038t0017g0185 a0004c0005t0002g0172 a0004c0005t0002g0173 a0004c0005t0002g0174 a0004c0005t0002g0175 a0004c0005t0006g0272 a0004c0005t0006g0273 a0004c0005t0006g0274 a0004c0005t0006g0275 a0004c0005t0006g0276 a0004c0008t0007g0180 a0004c0008t0007g0181 a0004c0008t0007g0182 a0004c0008t0010g0178 a0004c0008t0010g0179 a0004c0017t0011g0025 a0004c0017t0011g0026 a0006c0006t0001g0012 a0006c0006t0001g0013 a0006c0006t0001g0014 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0017 a0006c0006t0001g0019 a0006c0006t0001g0020 a0010c0011t0002g0095 a0010c0011t0002g0097 a0010c0011t0002g0098 a0010c0011t0002g0099 a0013c0023t0003g0110 a0013c0039t0015g0265 a0018c0044t0004g0096 a0020c0043t0007g0183 a0021c0024t0001g0100 a0022c0040t0013g0267 a0023c0037t0001g0018	99	280	0.3536	-38	c.135 others(57): Show c.1359+3183_1359+3220delTTGCGCCACTGCACTCCAGCCTGGGC AACAGTGCAAGA		MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
MYOC_chr1_171630417_171657688	171655344	CAACACTG others(31): Show CAACACTGAACATCTGGGCAGCTTCAGCCTTGCCCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	434	0.0023	-38	c.-27 others(49): Show c.-2771_-2734delAAAAGGGCAAGGCTGAAGCTGCCCAGATGTTCAG TGTT		MYOC	ENSG00000034971.17	transcript	ENST00000037502.11	protein_coding					2657		chr1	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0004 a0008 a0004 a0008	a0004c0038 a0008c0040 a0004c0038 a0008c0040	a0004c0038t0007 a0008c0040t0007 a0004c0038t0007 a0008c0040t0007	a0004c0038t0007g0166 a0008c0040t0007g0165 a0004c0038t0007g0166 a0008c0040t0007g0165	2	240	0.0083	-38	c.-68 others(47): Show c.-689_-652delTATATATATATATATATATATATATATATATATATA TA		MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding					512		chr10	TogoVar
MYRIP_chr3_39804609_40265321	40204016	ATATATAT others(31): Show ATATATATTATATATATTATATATTATATATAATATATT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	170	0.0059	-38	c.166 others(57): Show c.1666-5830_1666-5793delTATATATATTATATATTATATATAAT ATATTTATATAT		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1_chr20_64159452_64247253	64171582	TCCTCTGG others(31): Show TCCTCTGGCATCTGGAGGAACCCAAACCCTAACCCCTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02647.hp1 others(5): Show HG01884.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG03209.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0001c0004t0004	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0008g0016 others(5): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0008g0016 a0001c0001t0010g0009 a0001c0001t0013g0011 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0004t0004g0013	8	223	0.0359	-38	c.-99 others(55): Show c.-99+6876_-99+6913delCCCTAACCTCTGGCATCTGGAGGAACCC AAACCCTAAC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NAA15_chr4_139296505_139396384	139315013	TAGGTTAG others(31): Show TAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01123.hp2 others(20): Show HG00597.hp2 HG00735.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01981.hp2 HG02004.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp2 HG02622.hp1 HG02809.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp2 NA18953.hp1 NA18970.hp1 NA18988.hp1 NA18994.hp2 NA19056.hp2 NA19072.hp2 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0062 a0001c0001t0002g0006 a0001c0001t0002g0020 others(20): Show a0001c0001t0001g0062 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0308 a0001c0001t0017g0063	23	334	0.0689	-38	c.54+ others(55): Show c.54+13183_54+13220delAGGTTAGGTTAGGTTAGGTTAGGTTAGG TTAGGTTAGG		NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19						chr4	TogoVar
NAA60_chr16_3438680_3491953	3440067	TTAGAATA others(31): Show TTAGAATAGATAGTTTAGATACTCAATCCTAGTCAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	376	0.0027	-38	c.-38 others(49): Show c.-3846_-3809delTAGAATAGATAGTTTAGATACTCAATCCTAGTCA GAAA		NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding					3612		chr16	TogoVar
NAALADL2_chr3_174854334_175815548	175413185	TCAGGAGA others(31): Show TCAGGAGATGGAGAATATCCTGGCTAACACAGTGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02615.hp1 others(1): Show HG01884.hp1 HG02055.hp1 HG02615.hp1 HG03225.hp1	a0002 a0010 a0002 a0010	a0002c0005 a0010c0020 a0002c0005 a0010c0020	a0002c0005t0005 a0002c0005t0008 a0002c0005t0023 others(1): Show a0002c0005t0005 a0002c0005t0008 a0002c0005t0023 a0010c0020t0028	a0002c0005t0005g0009 a0002c0005t0008g0007 a0002c0005t0023g0045 others(1): Show a0002c0005t0005g0009 a0002c0005t0008g0007 a0002c0005t0023g0045 a0010c0020t0028g0001	4	64	0.0625	-38	c.109 others(59): Show c.1091-34029_1091-33992delTATCCTGGCTAACACAGTGAAACC CAGGAGATGGAGAA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175590211	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0005 a0016c0015t0002g0005	1	64	0.0156	-38	c.180 others(59): Show c.1800+14044_1800+14081delTATATATATATATATATATATATA TATATATATATATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 2603 hits)