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
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(97): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATGTATATATATATATATATATATATGTATATATATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0144 a0001c0001t0187g0144	1	320	0.0031	104	c.621 others(121): Show c.621+1912_621+1913insATATATATATATATATATACATATATAT ATATATATATATATACATATATATATATATATATATATATATATATATAT ACATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357129	T T	TATATATA others(97): Show TATATATATATATATATGTATATATATATATATATATATATATATATATA TATATATGTATATATATATATATATATATATATATGTATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	320	0.0031	104	c.621 others(121): Show c.621+1904_621+1905insGTATATATATATATATATACATATATAT ATATATATATATATATATACATATATATATATATATATATATATATATAT ATATATATACATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39469180	G G	GTGTGTGT others(97): Show GTGTGTGTGTATATATACATATATACATGTGTGTGTGTATATATACATAT ATACGTGTGTGTGTATATATACATATATACGTGTGTGTGTATATACATAT ATACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02572.hp2 HG01243.hp2 HG02486.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0128 a0001c0001t0003g0027 a0001c0001t0003g0128	3	400	0.0075	104	c.-89 others(121): Show c.-89+1449_-89+1450insATATATACATATATACATGTGTGTGTGT ATATATACATATATACGTGTGTGTGTATATATACATATATACGTGTGTGT GTATATACATATATACATGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432680	A A	AGAGAGAT others(97): Show AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAA GGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00741.hp1 others(40): Show HG00099.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp1 HG02129.hp1 HG02129.hp2 HG03491.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 a0002c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0002g0148 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0023 a0001c0001t0003g0108 a0001c0001t0003g0121 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0004g0106 a0001c0001t0004g0147 a0001c0001t0004g0217 a0001c0001t0007g0050 a0001c0001t0007g0124 a0001c0001t0009g0161 a0001c0001t0016g0136 a0001c0002t0001g0155 a0001c0002t0001g0164 a0001c0004t0001g0114 a0001c0004t0002g0132 a0001c0004t0012g0156 a0002c0011t0001g0158	43	250	0.1720	104	c.225 others(121): Show c.225-2348_225-2347insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGATAAAGGGAGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432699	A A	AGAGAGAT others(97): Show AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAA GGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 others(7): Show HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG02257.hp2 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0152 others(7): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0009g0118 a0001c0001t0009g0120 a0001c0002t0001g0144 a0001c0002t0001g0145	10	250	0.0400	104	c.225 others(121): Show c.225-2329_225-2328insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGATAAAGGGAGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144202926	A A	AGGAGCGG others(97): Show AGGAGCGGCCCGCTCTCTGTAGAGGGTGCGGGGAGGGGACCACCCGCTGT CTGTGGAGGGTGCGGGGGGGAGGGAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	140	0.0071	104	c.114 others(123): Show c.1141+2391_1141+2392insGCCCGCTCTCTGTAGAGGGTGCGGGG AGGGGACCACCCGCTGTCTGTGGAGGGTGCGGGGGGGAGGGAGCGCCCGC TGTCTGTGGAGGGGCGGGGGGGGGAGCG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144202945	A A	AGAGGGGC others(97): Show AGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGGGGG GGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCT CTGTG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	140	0.0071	104	c.114 others(123): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGAGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSH3_chr5_80649652_80881815	80692376	T T	TTAGATAG others(97): Show TTAGATAGATAGACATGTATATGTTTAGATAGATAGACATGTATATGTTT AGATAGATAAACATGTATATGTTTAGATAGATAGATAAACATGTATATGT TTAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0324 a0001c0001t0026g0324	1	362	0.0028	104	c.134 others(125): Show c.1340+13293_1340+13294insGACATGTATATGTTTAGATAGATA GACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAGA TAAACATGTATATGTTTAGATAGATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692400	T T	TTAGATAG others(97): Show TTAGATAGATAGACATGTATATGTTTAGATAGATAGACATGTATATGTTT AGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGT TTAGA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18970.hp1 NA18974.hp1 others(2): Show NA18946.hp2 NA18970.hp1 NA18974.hp1 NA18992.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0338 others(2): Show a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0340	5	362	0.0138	104	c.134 others(125): Show c.1340+13317_1340+13318insGACATGTATATGTTTAGATAGATA GACATGTATATGTTTAGATAGATAGATAAACATGTATATGTTTAGATAGA TAAACATGTATATGTTTAGATAGATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693323	A A	ATAAATAT others(97): Show ATAAATATGCACATGTATATGTTTAAATATGCACATGTATATGTTTAGAT AAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATGTAT GTGTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	362	0.0028	104	c.134 others(125): Show c.1340+14232_1340+14233insAATATGCACATGTATATGTTTAAA TATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATGTGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSI2_chr17_57251523_57689689	57450287	G G	GAAAGAAA others(97): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAACCTTTGTTAAATTACATAAAGTAATATAAGAAGTCACTT TCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG02615.hp1 others(1): Show HG01099.hp1 HG02055.hp1 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0055 a0001c0001t0080 others(1): Show a0001c0001t0001 a0001c0001t0055 a0001c0001t0080 a0001c0001t0085	a0001c0001t0001g0025 a0001c0001t0055g0030 a0001c0001t0080g0134 others(1): Show a0001c0001t0001g0025 a0001c0001t0055g0030 a0001c0001t0080g0134 a0001c0001t0085g0143	4	168	0.0238	104	c.405 others(123): Show c.405+48851_405+48852insGAAAGAAAGAAAGAAAGAAAGAAAAC CTTTGTTAAATTACATAAAGTAATATAAGAAGTCACTTTCCTTAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	760515	G G	GGGCCCGG others(97): Show GGGCCCGGGCTCCCACTCACACCCCACCCCCACCCAGGGCAGCCGTGAAA CCTGGCCCTGGCTCCCACCCACGCCCCACACCCACCCAGGGCAGCCATGA AACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0271 a0003c0004t0003g0271	1	388	0.0026	104	c.-41 others(113): Show c.-418_-417insGGCCCGGGCTCCCACTCACACCCCACCCCCACCCAG GGCAGCCGTGAAACCTGGCCCTGGCTCCCACCCACGCCCCACACCCACCC AGGGCAGCCATGAAACCT	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		218		chr16	TogoVar
MSLN_chr16_755734_773862	767549	G G	GGGGGGCG others(97): Show GGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGG GAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG03225.hp1 others(1): Show HG02723.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0006c0007t0001g0254	4	388	0.0103	104	c.159 others(119): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGG AGGAGGGGCGAGCGGGAGGAGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767850	A A	AGGAGGGG others(97): Show AGGAGGGGCGCGCGGAGGGGGGCGCGTGGAGGGGGCCGCGTGGAGGGGGG AGCGTGGGGGGGCGTGGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGGG CGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0007 a0010c0013t0007	a0010c0013t0007g0207 a0010c0013t0007g0207	1	388	0.0026	104	c.159 others(121): Show c.1596+382_1596+383insAGGGGCGCGCGGAGGGGGGCGCGTGGAG GGGGCCGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGGGGGGGCGTGGAGG GGGGCGCGTGGAGGGGGGGCGTGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTCL1_chr18_8700556_8837778	8747398	G G	GCTGTCTG others(97): Show GCTGTCTGGAAAGGCCCTAGGGGAGAGTCTGTTCCATGCCTGGTGCTTTG CTCCCTGGCCTGTGGTGGGGGCTGCAGTCCAAGATCAAGGTGCCTGCAGG GCACC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0010 a0020c0031t0001g0011 a0020c0031t0001g0010 a0020c0031t0001g0011	2	336	0.0060	104	c.143 others(125): Show c.1437+26960_1437+26961insCTGTGGTGGGGGCTGCAGTCCAAG ATCAAGGTGCCTGCAGGGCACCCTGTCTGGAAAGGCCCTAGGGGAGAGTC TGTTCCATGCCTGGTGCTTTGCTCCCTGGC	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MTNR1A_chr4_186528655_186560567	186540807	T T	TGAAGGAC others(97): Show TGAAGGACCAGGTGCTGTCTGACTGAAGGACCAGGTGCTGTCTGACTGAA GGAAGGACCAGGTGCTGTCTGACTGAAGGAAGGACCAGGTGCTGTCTGAC TGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG00639.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	396	0.0051	104	c.185 others(121): Show c.185-6251_185-6250insCTTCAGTCAGACAGCACCTGGTCCTTCC TTCAGTCAGACAGCACCTGGTCCTTCCTTCAGTCAGACAGCACCTGGTCC TTCAGTCAGACAGCACCTGGTCCTTC	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MUC4_chr3_195741771_195816929	195745523	A A	ATATATAT others(97): Show ATATATATATATATATATATTCTTTATATATATATATATATATATATTCT TTATATATATATATATATATATATATATTCTTTATATATATATATATATA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0181 a0181	a0181c0036 a0181c0036	a0181c0036t0002 a0181c0036t0002	a0181c0036t0002g0191 a0181c0036t0002g0191	1	249	0.0040	104	c.16 others(115): Show c.1652_*1653insATATATATATATATATATATATAAAGAATATATA TATATATATATATATATATAAAGAATATATATATATATATATATATAAAG AATATATATATATATATATA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1247		chr3	TogoVar
MUC4_chr3_195741771_195816929	195745524	T T	TATATATA others(97): Show TATATATATATATATATATTCTTTATATATATATATATATATATATTCTT TATATATATATATATATATATATATATTCTTTATATATATATATATATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0180 a0180	a0180c0033 a0180c0033	a0180c0033t0002 a0180c0033t0002	a0180c0033t0002g0195 a0180c0033t0002g0195	1	249	0.0040	104	c.16 others(115): Show c.1651_*1652insTATATATATATATATATATATATAAAGAATATAT ATATATATATATATATATATAAAGAATATATATATATATATATATATAAA GAATATATATATATATATAT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1246		chr3	TogoVar
MUC4_chr3_195741771_195816929	195745524	T T	TATATATA others(97): Show TATATATATATATATATTCTTTATATATATATATATATATATATTCTTTA TATATATATATATATATATATATATATTCTTTATATATATATATATATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0038 a0038	a0038c0163 a0038c0163	a0038c0163t0002 a0038c0163t0002	a0038c0163t0002g0005 a0038c0163t0002g0005	1	249	0.0040	104	c.16 others(115): Show c.1651_*1652insTATATATATATATATATATATATAAAGAATATAT ATATATATATATATATATATATAAAGAATATATATATATATATATATATA AAGAATATATATATATATAT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1246		chr3	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(97): Show TATATTAATATTATATATATTATATAATATTATATATATTATATAATATA TATTATATATAATATATATTATATTATATATTATATATATAATATATATA ATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0179 a0002c0004t0011g0179	1	326	0.0031	104	c.80- others(119): Show c.80-1582_80-1581insTAATATTATATATATTATATAATATTATAT ATATTATATAATATATATTATATATAATATATATTATATTATATATTATA TATATAATATATATAATATAATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(97): Show GTATATATATATATATATATATATACACATACGTATATATATATACGTAT ATATATATATACACGTATATATATATACGTATATATATATATATATATAT ACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	416	0.0024	104	c.342 others(121): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTGTATATATATATATACGTATATATATATACGTATG TGTATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(97): Show GTATATATATATATATATATATATATATATACGTATATATATATACGTAT ATATATATATACACGTATATATATATACGTATATATATATATATATATAT ACACA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03017.hp2 HG04184.hp1 others(1): Show HG02015.hp1 HG03017.hp2 HG04184.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0004g0149 a0001c0001t0004g0150 others(1): Show a0001c0001t0001g0048 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0167	4	416	0.0096	104	c.342 others(121): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATATATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MYNN_chr3_169768396_169794716	169771266	A A	ATATAAAA others(97): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	104	c.-22 others(115): Show c.-2228_-2227insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2129		chr3	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTGA others(97): Show GGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGG AGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATG GTGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0319 a0011c0028t0001g0319	1	356	0.0028	104	c.415 others(121): Show c.4152+638_4152+639insTAGTGATGGTGTTGGTGTTGGTGGAGGT AGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATCGTGGAGG TAGCGATGGTGTTGGTGATGGTGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTGA others(97): Show GGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGG AGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGCTGTTGGTGATG GTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG03098.hp2 HG01891.hp2 HG03041.hp2 HG03098.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0060 a0006c0061 a0010c0070 a0001c0060 a0006c0061 a0010c0070	a0001c0060t0001 a0006c0061t0001 a0010c0070t0001 a0001c0060t0001 a0006c0061t0001 a0010c0070t0001	a0001c0060t0001g0243 a0006c0061t0001g0139 a0010c0070t0001g0136 a0001c0060t0001g0243 a0006c0061t0001g0139 a0010c0070t0001g0136	3	356	0.0084	104	c.415 others(121): Show c.4152+638_4152+639insTAGTGATGGTGTTGGTGTTGGTGGAGGT AGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TAGTGATGCTGTTGGTGATGGTGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77192915	G G	GGTAGTTG others(97): Show GGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAG GTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGT GGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG01358.hp2 others(11): Show HG01099.hp1 HG01243.hp1 HG01358.hp2 HG01934.hp2 HG02109.hp2 HG02155.hp2 HG02738.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp1 HG04204.hp2 NA19004.hp1 NA19087.hp1	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0032 a0005c0080 a0006c0006 others(2): Show a0005c0032 a0005c0080 a0006c0006 a0007c0010 a0007c0011	a0005c0032t0001 a0005c0080t0001 a0006c0006t0001 others(2): Show a0005c0032t0001 a0005c0080t0001 a0006c0006t0001 a0007c0010t0001 a0007c0011t0001	a0005c0032t0001g0005 a0005c0032t0001g0222 a0005c0080t0001g0127 others(11): Show a0005c0032t0001g0005 a0005c0032t0001g0222 a0005c0080t0001g0127 a0006c0006t0001g0005 a0006c0006t0001g0016 a0006c0006t0001g0021 a0006c0006t0001g0022 a0006c0006t0001g0023 a0006c0006t0001g0036 a0006c0006t0001g0117 a0006c0006t0001g0221 a0006c0006t0001g0266 a0007c0010t0001g0224 a0007c0011t0001g0260	14	356	0.0393	104	c.415 others(121): Show c.4152+638_4152+639insTAGTTGTTTGTGATGGTGGAGGTAGTGA TGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAG GTGGTGATGGTGTTGATGGTGGGGAG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOC_chr1_171630417_171657688	171648991	G G	GTATTTTT others(97): Show GTATTTTTTTTCTACTTTTCAAAAACTATTATATATACATAAAATTTATA TATGTATATATATGAAAATTTATATAAGCCCAGAGAAGAAAAAGTTATAT ATAAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	434	0.0023	104	c.604 others(121): Show c.604+2913_604+3016dupGTTATATATAACTTTTTCTTCTCTGGGC TTATATAAATTTTCATATATATACATATATAAATTTTATGTATATATAAT AGTTTTTGAAAAGTAGAAAAAAAATA	MYOC	ENSG00000034971.17	transcript	ENST00000037502.11	protein_coding	1/2			chr1	TogoVar
MYOM2_chr8_2040046_2150456	2081320	G G	GTTTGATT others(97): Show GTTTGATTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGTAGAATG AGGTTTGGTTCTGGCCTGCGGGAGGAACAGGCAGCCCAGCCCGTGCAGAA TGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0123 a0002c0123	a0002c0123t0001 a0002c0123t0001	a0002c0123t0001g0192 a0002c0123t0001g0192	1	403	0.0025	104	c.151 others(123): Show c.1516+1746_1516+1747insGTGTAGAATGAGGTTTGGTTCTGGCC TGCGGGAGGAACAGGCAGCCCAGCCCGTGCAGAATGAGATTTGATTCTGG CCTGCGGGAGGAACAGGCAGCCCAGCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAALAD2_chr11_90129663_90197894	90154998	T T	TATATTAT others(97): Show TATATTATATACGTATACATAATATGTATATATTATATACGTATACATAA TATGTATATATTATATACGTATACATAATATGTATATATTATATACGTAT ACATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	364	0.0028	104	c.796 others(121): Show c.796+2514_796+2515insATATTATATACGTATACATAATATGTAT ATATTATATACGTATACATAATATGTATATATTATATACGTATACATAAT ATGTATATATTATATACGTATACATA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18			chr11	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(97): Show TTATATATGTGTATATGTATATATACACATATATAATATATATGTGTCTG TATATATATACACATATATATTATATATATGTGTCTGTGTATATATATAC ACATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0009 a0002c0003t0008g0009	1	132	0.0076	104	c.56- others(121): Show c.56-15552_56-15551insATATGTATATATACACATATATAATATA TATGTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGT ATATATATACACATATATATATGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATAT others(97): Show TTATATATGTGTATATGTATATATACACATATATATTATATATGTGTCTG TATATATATACACATATATATTATATATATGTGTCTGTGTATATATATAC ACATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp2 others(23): Show HG00558.hp2 HG00609.hp2 HG00673.hp2 HG01071.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03831.hp2 HG03834.hp2 NA18955.hp1 NA18998.hp1 NA19062.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0014 others(2): Show a0001c0001 a0001c0004 a0001c0014 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0004t0008 a0001c0014t0001 a0002c0002t0003 a0002c0002t0033 a0002c0003t0017	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0097 others(23): Show a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0003g0099 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0004g0015 a0001c0001t0005g0123 a0001c0001t0006g0104 a0001c0001t0016g0021 a0001c0001t0016g0103 a0001c0001t0020g0131 a0001c0001t0026g0088 a0001c0001t0028g0093 a0001c0001t0032g0125 a0001c0004t0001g0029 a0001c0004t0002g0026 a0001c0004t0002g0096 a0001c0004t0007g0024 a0001c0004t0008g0122 a0001c0014t0001g0041 a0002c0002t0003g0100 a0002c0002t0033g0074 a0002c0003t0017g0091	26	132	0.1970	104	c.56- others(121): Show c.56-15552_56-15551insATATGTATATATACACATATATATTATA TATGTGTCTGTATATATATACACATATATATTATATATATGTGTCTGTGT ATATATATACACATATATATATGTGT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21265015	T T	TTATATGT others(97): Show TTATATGTGTATATGTATATATACACATATATATTATATATATATGTGTC TGTATATATATACACATATATATTATATATATGTGTCTGTGTATATATAT ACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	132	0.0076	104	c.56- others(121): Show c.56-15558_56-15557insGTGTATATGTATATATACACATATATAT TATATATATATGTGTCTGTATATATATACACATATATATTATATATATGT GTCTGTGTATATATATACACATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCK1_chr3_136857208_136956606	136893196	A A	ACACACAC others(97): Show ACACACACACACACACACCATATTTTCTTTACCCATTCGTTAATTGATGG ACATTTGGGCTGGTTCCATATTTTTGCAGTTGTGAATTGTGCTGCTGTAA ACATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	232	0.0043	104	c.-19 others(123): Show c.-19+30845_-19+30846insCACACACACACACACCATATTTTCTT TACCCATTCGTTAATTGATGGACATTTGGGCTGGTTCCATATTTTTGCAG TTGTGAATTGTGCTGCTGTAAACATGCA	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(97): Show CATATATATATACATATATATATGTATGTATATATATATATACGTATATA TATATATACGTATATATATATATATATATATATATACGTATGTATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	334	0.0030	104	c.-17 others(123): Show c.-17+18786_-17+18787insCATATATATATGTATGTATATATATA TATACGTATATATATATATACGTATATATATATATATATATATATATACG TATGTATATATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(97): Show CATATATATATACATATATATATGTATGTATATATATATATATACGTATA TATATATATATACGTATATATATATATATATATATACGTATGTATATATA TATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	334	0.0030	104	c.-17 others(123): Show c.-17+18786_-17+18787insCATATATATATGTATGTATATATATA TATATACGTATATATATATATATACGTATATATATATATATATATATACG TATGTATATATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CGTATATA others(97): Show CGTATATATATGTATATATATATACGTGTATATATATGTGTATATATATA TATATACGTGTATATATATGTGTATATATATATATATGTGTGTATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG02723.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0307 a0001c0001t0001g0308	2	334	0.0060	104	c.-17 others(123): Show c.-17+18775_-17+18776insGTATATATATGTATATATATATACGT GTATATATATGTGTATATATATATATATACGTGTATATATATGTGTATAT ATATATATATGTGTGTATATATATATAT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132700129	T T	TTTTGAGA others(97): Show TTTTGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGA TTTTTTCTTGTAAAGTTGTTTAAGTTCTTTGTAGATTCTGGATTAGCCCT TTGTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0051 a0005c0007t0002g0051	1	70	0.0143	104	c.571 others(125): Show c.5713+25394_5713+25497dupGACAAAGGGCTAATCCAGAATCTA CAAAGAACTTAAACAACTTTACAAGAAAAAATCAACCCCATCAAAAAGTG AGTGAAGGATATGAACAGACACTTCTCAAA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	19/19			chr2	TogoVar
NCOA1_chr2_24486254_24775702	24516977	C C	CATATACG others(97): Show CATATACGTATATATACGTGTATATATACGTATATATACACATATACGTA TATATACGTGTATATATACGTATATATATACACATATACGTATATATACG TGTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 NA18944.hp2 others(1): Show HG00639.hp1 HG01175.hp1 NA18944.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0271 a0001c0001t0001g0306 a0001c0001t0001g0307 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0013g0219	4	314	0.0127	104	c.-39 others(125): Show c.-396+25390_-396+25391insCGTGTATATATACGTATATATACA CATATACGTATATATACGTGTATATATACGTATATATATACACATATACG TATATATACGTGTATATATACGTATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOR1_chr17_16024157_16220534	16095666	G G	GGGGGGTC others(97): Show GGGGGGTCAGCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 NA21309.hp1 HG02922.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039	3	282	0.0106	104	c.282 others(123): Show c.2820+2700_2820+2701insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGCTGACCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(97): Show GGGGGTCAGCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGA GGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG02258.hp2 others(8): Show HG01243.hp2 HG01257.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010	a0001c0001t0002 a0001c0001t0025 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0001t0025 a0001c0002t0005 a0001c0008t0011 a0001c0010t0002	a0001c0001t0002g0185 a0001c0001t0002g0205 a0001c0001t0025g0183 others(8): Show a0001c0001t0002g0185 a0001c0001t0002g0205 a0001c0001t0025g0183 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0172 a0001c0002t0005g0173 a0001c0008t0011g0006 a0001c0010t0002g0203	11	282	0.0390	104	c.282 others(123): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(97): Show GGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	282	0.0036	104	c.282 others(123): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(97): Show GGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0012 a0001c0001t0024	a0001c0001t0012g0028 a0001c0001t0024g0129 a0001c0001t0012g0028 a0001c0001t0024g0129	2	282	0.0071	104	c.282 others(123): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(97): Show GGGGGTCAGCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAG GTGGGGGGGGTGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	282	0.0036	104	c.282 others(123): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(97): Show GGGGGTCAGCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGG TGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01934.hp1 HG01168.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0242 a0001c0001t0002g0012 a0001c0001t0002g0242	2	282	0.0071	104	c.282 others(123): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCS1_chr9_130167404_130242303	130221776	A A	AAATATAA others(97): Show AAATATAAATTATGTATATATAAATATATATACATAAATATAAATTATGT ATATATAAATATATATACATAATATAAATTAATGTATATATAAATATATA TACAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0159 a0001c0002t0057g0159	1	348	0.0029	104	c.308 others(119): Show c.308-803_308-802insTATAAATTAATGTATATATAAATATATATA CATAATATAAATTATGTATATATAAATATATATACATAAATATAAATTAT GTATATATAAATATATATACATAA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NGEF_chr2_232873701_233018256	232995550	C C	CTATATAC others(97): Show CTATATACAGTATGTATACTGTATATATATATACAGTATGTATACTGTAT ATATATATACAGTATGTATACTGTATATATATATACAGTATGTATACTGT ATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0297 a0002c0010t0003g0297	1	362	0.0028	104	c.-75 others(123): Show c.-75+17517_-75+17518insTATATACAGTATACATACTGTATATA TATATACAGTATACATACTGTATATATATATACAGTATACATACTGTATA TATATATACAGTATACATACTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAC others(97): Show ATATATACAGTATGTATACTATATATACAGTATGTATACTATATATATAC AGTATGTATACTATATATATACAGTATGTATACTATATATATACAGTATG TATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03710.hp2 HG01358.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0202 a0001c0002t0003g0163 a0001c0002t0003g0202	2	362	0.0055	104	c.-75 others(123): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ACATACTGTATATATATAGTATACATACTGTATATATATAGTATACATAC TGTATATATAGTATACATACTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	565736	A A	AGGAGAGC others(97): Show AGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGG GGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCG GGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	104	c.-19 others(115): Show c.-1917_-1916insGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTG TCTTGGTGTGTCGGGGGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTG TGTCTTGGTGTGTCGGGGGT	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1268		chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGGGGGG others(97): Show TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0004 a0001c0069t0004	a0001c0069t0004g0112 a0001c0069t0004g0112	1	324	0.0031	104	c.140 others(121): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPIPA8_chr16_18312919_18341736	18341431	G G	GGGGGAGG others(97): Show GGGGGAGGGGGATGAGGATGGGAATTGGGGGAGGGGGATAAGGATGGGAA TTGGGGGGAGCGGGATGAGGATGGGAATTGGGGGAGCGGGATGAGGATGG GAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	40	0.0250	104	c.-51 others(115): Show c.-5125_-5124insAATTCCCATCCTCATCCCGCTCCCCCAATTCCCA TCCTCATCCCGCTCCCCCCAATTCCCATCCTTATCCCCCTCCCCCAATTC CCATCCTCATCCCCCTCCCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4696		chr16	TogoVar

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