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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Select column to sort.

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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
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(535): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAAATATAGATTTATATATATTTATTTATAAATAAC TATAAATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02922.hp1 HG03516.hp1 HG01192.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0037 a0001c0001t0001 a0001c0001t0003 a0001c0001t0037	a0001c0001t0001g0199 a0001c0001t0003g0049 a0001c0001t0037g0115 a0001c0001t0001g0199 a0001c0001t0003g0049 a0001c0001t0037g0115	3	208	0.0144	542	c.-97 others(559): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATAGATTTATATATA TTTATTTATAAATAACTATAAATATAGATTTATATATATTTATTTATAAA TAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132764647	G G	GGGTGGGA others(535): Show GGGTGGGAGGGTGTGCGTGGTGACACTCAGAAACACGGCCGGGTCAGTCC TGCTGTGGTGGGAGGGTGTGTGTGGTGACACTCAGGAACACGGTCGGGCC AGTCCTGCTGCGGTGGGAGGGTGTGCGTGGTGACACTCAGAAACACGGTC GGGCCAGTCCTGCAGGGTTGAGAGGGTGTGTGTGGTGACACTCAGAAACA CGGCCGGGTCAGTCCTGCTGTGGTGGGAGGGTGTGCGTGGTGACACTCAG GAACACGGTCGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCGTGGTGACA CTCAGGAACACGGTCGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCATGG TGACAGGAACACGGCCGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCGTG GTTACACTCAGGAACACGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCGT GGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTGTGGTGGGAGGGTG TGTGTGGTGACACTCAGGAACACGGTCGGGTCAGTCCTGCTGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0182 a0001c0001t0017g0182	1	204	0.0049	542	c.904 others(557): Show c.904-809_904-808insCCAGTCCTGCAGGGGTGGGAGGGTGTGCAT GGTGACAGGAACACGGCCGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCG TGGTTACACTCAGGAACACGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGC GTGGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTGTGGTGGGAGGG TGTGTGTGGTGACACTCAGGAACACGGTCGGGTCAGTCCTGCTGCGGTGG GAGGGTGTGCGTGGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTGT GGTGGGAGGGTGTGTGTGGTGACACTCAGGAACACGGTCGGGCCAGTCCT GCTGCGGTGGGAGGGTGTGCGTGGTGACACTCAGAAACACGGTCGGGCCA GTCCTGCAGGGTTGAGAGGGTGTGTGTGGTGACACTCAGAAACACGGCCG GGTCAGTCCTGCTGTGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACAC GGTCGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCGTGGTGACACTCAGG AACACGGTCGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(535): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA CTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	252	0.0040	542	c.10- others(559): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTC CTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCT CCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCT CCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(535): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATATAATATATATTATATATATAATTCTATATATATAA TATATATTATATATATAATTCTATATATATAATATATATTATATATATAA TTCTATATATATAATATATATTATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTCTATATATAT AATATATATTATATATATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	80	0.0125	542	c.62- others(561): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATA GAATTATATATATAATATATATTATATATATAGAATTATATATATAATAT ATATTATATATATAGAATTATATATATAATATATATTATATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(535): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATATTCTATATATA TAATATATATTATATATATAATTCTATATATATAATATATATTATATATA TATTCTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTCTATATATAT AATATATATTATATATATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	80	0.0125	542	c.62- others(561): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATAGA ATTATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATATATATATAATATATATTATATATATAGAATTAT ATATATAATATATATTATATATATAGAATATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATTATATATA TAATATATATTATATATATAGAATTATATATATAATATATATTATATATA TAGAATTATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(535): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATA TATATGTACACACAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	232	0.0043	542	c.-67 others(561): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAA GAGGATATATATATATGTACACACAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(535): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	542	c.-46 others(553): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCC CTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCT CTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCAC TTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCAC CTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(535): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0111	1	375	0.0027	542	c.317 others(559): Show c.317+1447_317+1448insCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF3B_chr20_32272651_32340011	32323070	T T	TTATATAC others(535): Show TTATATACATATATTTATATACATATTTATATATATTTATATACATATAT TTATATATATATATTTATATATATATTTATATACATATATTTATACATAT ATTTATATACATATATTTATATATATATTTATATATATATTTATATACAT ATATTTATATATATATTTATATACATATATTTATATATTTATATATATTT ATATATATTCATATTTATATTTATATATATTTATATATATATTTATATTT ATATATATATTTATATTTAATTATATTTATATATATTTATATATATATTT ATATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTT ATATATTTATATTTATATATATCTATATATTTATATATATTTATATATTT ATATTTATATATATTTATATATTTATATATATTTATATATTTATATTTAT ATATATTTATATTTATATATATTTATATATTTATATTTATATATATTTAT ATTTATATATTTATATATTTATATTTATATATATTTATATTTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	242	0.0041	542	c.174 others(561): Show c.1749-3695_1749-3694insCATATATTTATATACATATTTATATA TATTTATATACATATATTTATATATATATATTTATATATATATTTATATA CATATATTTATACATATATTTATATACATATATTTATATATATATTTATA TATATATTTATATACATATATTTATATATATATTTATATACATATATTTA TATATTTATATATATTTATATATATTCATATTTATATTTATATATATTTA TATATATATTTATATTTATATATATATTTATATTTAATTATATTTATATA TATTTATATATATATTTATATTTGTATATATTTATATATATGTATATTTA TATATATTTATATATTTATATATTTATATTTATATATATCTATATATTTA TATATATTTATATATTTATATTTATATATATTTATATATTTATATATATT TATATATTTATATTTATATATATTTATATTTATATATATTTATATATTTA TATTTATATATATTTATATTTATATATTTATATATTTATATTTATATATA TTTATATTTATATATA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32323070	T T	TTATATAC others(535): Show TTATATACATATATTTATATACATATTTATATATATTTATATACATATAT TTATATATATATTTATATATATATTTATATACATATATTTATACATATAT TTATATACATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATATATATATATTTATATACATATATTTATATATTTATATATATTT ATATATATTCATATTTATATTTATATATATTTATATATATATTTATATTT ATATATATATTTATATTTAATTATATTTATATATATTTATATATATATTT ATATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTT ATATATTTATATTTATATATATCTATATATTTATATATATTTATATATTT ATATTTATATATATTTATATATTTATATATATTTATATATTTATATTTAT ATATATTTATATTTATATATATTTATATATTTATATTTATATATATTTAT ATTTATATATTTATATATTTATATTTATATATATTTATATTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0046 a0001c0002t0038g0046	1	242	0.0041	542	c.174 others(561): Show c.1749-3695_1749-3694insCATATATTTATATACATATTTATATA TATTTATATACATATATTTATATATATATTTATATATATATTTATATACA TATATTTATACATATATTTATATACATATATTTATATATATATTTATATA TATATTTATATACATATATTTATATATATATATTTATATACATATATTTA TATATTTATATATATTTATATATATTCATATTTATATTTATATATATTTA TATATATATTTATATTTATATATATATTTATATTTAATTATATTTATATA TATTTATATATATATTTATATTTGTATATATTTATATATATGTATATTTA TATATATTTATATATTTATATATTTATATTTATATATATCTATATATTTA TATATATTTATATATTTATATTTATATATATTTATATATTTATATATATT TATATATTTATATTTATATATATTTATATTTATATATATTTATATATTTA TATTTATATATATTTATATTTATATATTTATATATTTATATTTATATATA TTTATATTTATATATA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LARS1_chr5_146108034_146187650	146174469	T T	TATATATA others(535): Show TATATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATGGATATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATCCATATATC TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0238 a0003c0011t0002g0238	1	284	0.0035	542	c.126 others(559): Show c.126-1696_126-1695insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATATGGATATAT ATATATGGATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATGGATAGATATATGGATATATATATGGATAGATATATATGG ATATATATATGGATAGATATATATGGATATATATATATCCATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATGGATATATATATGGATATATATATAT GGATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LAT2_chr7_74205006_74234834	74214523	T T	TATAAATA others(535): Show TATAAATATATATATATGAAAATATGTATATAAATATATATATATGAAAA TATGTATATAAATATATATATATGAAAATATATATATAAATATATATATG AAAATATATATGAAAATATATATATGAAAATATATATGAAAATATATATA TGAAAATATATATGAAAATATATATATGAAAATATATATGAAAATATATA TATAAATATATATATATGAATATATATAAATATATATACGTGAAAATATA TATATAAATATATATACGTGAAAATATATATATAAATATATATACGAAAA TATATATAAATATATATACGTGAAAATATATATATATAAATATATATACG TGAAAATATATATAAATATATATACGTGAAAATATATATATAAATATATA TATGAAAATATATATATAAATATATATATATGAAAATGTATATATAAATA TATATATATGAAAATGTATATATAAATATATATATATGAAAATATATATA TAAATATATATATATGAAAATATATATATAAATATATATATGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	344	0.0029	542	c.-21 others(559): Show c.-218-298_-218-297insTAAATATATATATATGAAAATATGTATA TAAATATATATATATGAAAATATGTATATAAATATATATATATGAAAATA TATATATAAATATATATATGAAAATATATATGAAAATATATATATGAAAA TATATATGAAAATATATATATGAAAATATATATGAAAATATATATATGAA AATATATATGAAAATATATATATAAATATATATATATGAATATATATAAA TATATATACGTGAAAATATATATATAAATATATATACGTGAAAATATATA TATAAATATATATACGAAAATATATATAAATATATATACGTGAAAATATA TATATATAAATATATATACGTGAAAATATATATAAATATATATACGTGAA AATATATATATAAATATATATATGAAAATATATATATAAATATATATATA TGAAAATGTATATATAAATATATATATATGAAAATGTATATATAAATATA TATATATGAAAATATATATATAAATATATATATATGAAAATATATATATA AATATATATATGAA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214523	T T	TATAAATA others(535): Show TATAAATATATATATATGAAAATATGTATATAAATATATATATATGAAAT ATGTATATAAATATATATATATGAAAATATATATATAAATATATATATGA AAATATATATGAAAATATATATATGAAAATATATATGAAAATATATATAT GAAAATATATATGAAAATATATATATGAAAATATATATGAAAATATATAT ATAAATATATATATATGAATATATATAAATATATATACGTGAAAATATAT ATATAAATATATATACGTGAAAATATATATATAAATATATATACGAAAAT ATATATAAATATATATACGTGAAAATATATATATATAAATATATATACGT GAAAATATATATAAATATATATACGTGAAAATATATATATAAATATATAT ATGAAAATATATATATAAAATATATATATATGAAAATATATATATAAATA TATATATATGAAAATGTATATATAAATATATATATATGAAAATATATATA TAAATATATATATATGAAAATATATATATAAATATATATATGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	344	0.0029	542	c.-21 others(559): Show c.-218-298_-218-297insTAAATATATATATATGAAAATATGTATA TAAATATATATATATGAAATATGTATATAAATATATATATATGAAAATAT ATATATAAATATATATATGAAAATATATATGAAAATATATATATGAAAAT ATATATGAAAATATATATATGAAAATATATATGAAAATATATATATGAAA ATATATATGAAAATATATATATAAATATATATATATGAATATATATAAAT ATATATACGTGAAAATATATATATAAATATATATACGTGAAAATATATAT ATAAATATATATACGAAAATATATATAAATATATATACGTGAAAATATAT ATATATAAATATATATACGTGAAAATATATATAAATATATATACGTGAAA ATATATATATAAATATATATATGAAAATATATATATAAAATATATATATA TGAAAATATATATATAAATATATATATATGAAAATGTATATATAAATATA TATATATGAAAATATATATATAAATATATATATATGAAAATATATATATA AATATATATATGAA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF1_chr16_848634_975984	858496	C C	CGTGGTGT others(535): Show CGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCACGG GACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAG TGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0056 a0001c0067t0001g0056	1	294	0.0034	542	c.153 others(561): Show c.1530-3791_1530-3790insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGTGACACCACTCACACGCGTCCCGTGACACCACTGCACA CGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACC CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(535): Show ACACCCACAATTACACCCACACTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTT ACACCCACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCACACTTACATCTACCTCCACGCCCACTCACACCCACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0095 a0001c0003t0006g0095	1	290	0.0035	542	c.129 others(559): Show c.1290-971_1290-970insATTACACCCACACTTACATCTACCTCCA CGCCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTCACA CCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTA CCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTTA CACCCACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACT CACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACT CACACCCACCCACA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGGAACAG others(535): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACA CGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	350	0.0029	542	c.20 others(553): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(535): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATATATATTTTGTAAATATATATTGTAAATATATATAAATATATATTT TGTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATATATA TAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAA TATATAAATGTATACATTTTGTAAATATATAAAAATATATACATTTTGTA AATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTA AATATATAAATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATAAATATATACATATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18973.hp2 HG02738.hp2 NA18973.hp2	a0003 a0006 a0003 a0006	a0003c0001 a0006c0004 a0003c0001 a0006c0004	a0003c0001t0004 a0006c0004t0001 a0003c0001t0004 a0006c0004t0001	a0003c0001t0004g0169 a0006c0004t0001g0202 a0003c0001t0004g0169 a0006c0004t0001g0202	2	330	0.0061	542	c.197 others(561): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATACATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAACATATATATATTTATATATATTT ACAAAACATATATATTTATATATATTTACAAAACATATATATTTATATAT ATTTACAAAACATATATATTTATATATATTTACAAAACATATATATATTT ATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(535): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATATATTTTGTAAATATATATTGTA AATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATA TATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGT ATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATACATTTTGTAAATATATAAATGTATACATTTTGTAAATATA TAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATA TAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATA TATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATA TAAATATATACATATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0001 a0022c0031t0001	a0022c0031t0001g0046 a0022c0031t0001g0046	1	330	0.0030	542	c.197 others(561): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATATA TTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTACA AAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTACA AAATGTATATATTTTTATATATTTACAAAATGTATACATTTATATATTTA CAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATATAT ATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATATA TATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAAAT ATATATTTATATATATTTACAATATATATTTACAAAATATATATATATTT ACAAAACATATATATTTATATATATTTACAAAACATATATATTTATATAT ATTTACAAAACATATATATTTATATATATTTACAAAACATATATATATTT ATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(535): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACG TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGC CACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCT ACTGCCACATCCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCAT CCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACAACCCCTCAT CCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCATGTCCC CTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18971.hp2 HG00673.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0060 a0002c0005t0001g0196 a0002c0002t0001g0060 a0002c0005t0001g0196	2	264	0.0076	542	c.180 others(561): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCG AGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGG GGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(535): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGAGTGTGTTTGGTGGGGGAGTGTGG TTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTG GTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTG GTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01261.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0010 a0003c0003t0003 a0003c0003t0010	a0003c0003t0003g0037 a0003c0003t0010g0066 a0003c0003t0003g0037 a0003c0003t0010g0066	2	360	0.0056	542	c.57+ others(559): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGAGTGTGTTTGGTGGGGGA GTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGG AGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGC AGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGG GGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGG GGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(535): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	330	0.0030	542	c.-5+ others(557): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TATAATATATAAAATAAGATTTTATATATATAAAAATATATATAAATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTAT ATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189431	C C	CTTATTTT others(535): Show CTTATTTTATATATATTTTATATATTTTATATATATAAAATCTTATTTTA TATATATTTTTATATATAAAAAATCATATTTTTTATATATATTATATATT TTATATATATGAAATCTTATTTTATATATATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATTTTATATATATATAAAATCTTAC TTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0097 a0002c0002t0004g0097	1	330	0.0030	542	c.-5+ others(557): Show c.-5+3166_-5+3167insATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATA TATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAAT AAGATTTTATATATATATAAAATATATATAAAATATATATAAAATAAGAT TTCATATATATAAAATATATAATATATATAAAAAATATGATTTTTTATAT ATAAAAATATATATAAAATAAGATTTTATATATATAAAATATATAAAATA TATATAAAATAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(535): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATAGAAGTATATATAAATATATA TATTTATATAGAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03491.hp2 HG02698.hp2 HG03491.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0004 a0005c0005t0008 a0003c0003t0004 a0005c0005t0008	a0003c0003t0004g0182 a0005c0005t0008g0184 a0003c0003t0004g0182 a0005c0005t0008g0184	2	326	0.0061	542	c.358 others(559): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATA TAAATATATATATTTATATAGAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(535): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATAGAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01516.hp2 others(16): Show HG00323.hp2 HG00597.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG02129.hp1 HG02135.hp1 HG03704.hp1 NA18945.hp2 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18973.hp1 NA19004.hp1 NA19010.hp1 NA19056.hp1 NA19068.hp1 NA19080.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0014 a0003c0003 a0005c0005 a0001c0014 a0003c0003 a0005c0005	a0001c0014t0002 a0003c0003t0001 a0003c0003t0003 others(5): Show a0001c0014t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0014 a0005c0005t0001 a0005c0005t0003 a0005c0005t0004	a0001c0014t0002g0103 a0003c0003t0001g0079 a0003c0003t0001g0080 others(15): Show a0001c0014t0002g0103 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0003g0001 a0003c0003t0004g0077 a0003c0003t0004g0083 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0090 a0003c0003t0004g0298 a0003c0003t0004g0299 a0003c0003t0014g0078 a0005c0005t0001g0088 a0005c0005t0003g0068 a0005c0005t0003g0089 a0005c0005t0004g0006 a0005c0005t0004g0128	19	326	0.0583	542	c.358 others(559): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(535): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAATTATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATAGAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0087 a0003c0003t0004g0087	1	326	0.0031	542	c.358 others(559): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAATTATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(535): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATAGAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0063 a0005c0005t0002g0064 a0005c0005t0002g0063 a0005c0005t0002g0064	2	326	0.0061	542	c.358 others(559): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085831	G G	GCCCCCCA others(535): Show GCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAG TCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCC CCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGT GGCCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTG TGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0016 a0016	a0016c0075 a0016c0075	a0016c0075t0002 a0016c0075t0002	a0016c0075t0002g0243 a0016c0075t0002g0243	1	403	0.0025	542	c.164 others(559): Show c.1644+445_1644+446insCCACTGTTGTGATCTCCGCGTGGCCCCC CACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGC CCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTC CGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGA TCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTC GTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCCCC CCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGG CCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGC GTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCT CCGCGTGGCCCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241808012	T T	TTCCCTCC others(535): Show TTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACTCTCCCCTCTTAGCCCAGGGACCTCCGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	319	0.0031	542	c.-12 others(553): Show c.-1266_-1265insTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCCGCA GGCCACCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1180		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(535): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCA TCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGT CCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG03017.hp1 HG02040.hp2 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0073 a0003c0003t0074 a0003c0003t0073 a0003c0003t0074	a0003c0003t0073g0080 a0003c0003t0074g0071 a0003c0003t0073g0080 a0003c0003t0074g0071	2	366	0.0055	542	c.46 others(551): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCC ATCCATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCAC TTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(535): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG02738.hp1 NA18950.hp1 others(1): Show HG01261.hp1 HG02738.hp1 NA18950.hp1 NA19010.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0089 a0003c0003t0010g0203 a0003c0003t0010g0246 others(1): Show a0003c0003t0010g0089 a0003c0003t0010g0203 a0003c0003t0010g0246 a0003c0003t0010g0274	4	366	0.0109	542	c.46 others(551): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCAC TTGTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(535): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATATATACACAGTATGTATACTGCATGCAGTATGTATACTGTA TACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	362	0.0028	542	c.-75 others(561): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATACATACT GTGTATATATACACAGTATACATACTGTGTATATATACGGTATACATACT GTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGT GTATATATACGGTATACATACTGTGTATATATACGGTATACATACATACA GTATACATACATACAGTATACATACATACAGTATACATGCTGTATACAGT ATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(535): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTTAAACTA TATAGTTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAAC TATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAAC TATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTA TATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAA ACTATATAGTTTTAAACTATGTAGTTTTAAACTATGTAGTTTTAAACTAT ATAGTTCATGTAGTTTTAAACTAGTTTAAAACTATATAGTTTATGTAGTT TTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	244	0.0041	542	c.342 others(561): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTAGTTT AAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTACATA GTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTA AAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAG TTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATA TAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAA CTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACT ATATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAA ACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCTCCCG others(535): Show TCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACGCCGGCGAGCAGGTCCTCCCGACCATGGAGCATCTC ACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTC CTCCCGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCCGGCGAGCA GGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	242	0.0041	542	c.361 others(561): Show c.361-15366_361-15365insGACCTGCTCGCGGGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTTGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGG GACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCC GGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CTCCGTGGTCGGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841652	G G	GCATCTCA others(535): Show GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGAC CATGGCACATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAG GCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCATGGCA CATCTCACGCCGGCGAGCAGGTCCACCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCATGGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	242	0.0041	542	c.361 others(561): Show c.361-15575_361-15574insTGCCATGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGTGGACCTG CTCGCCGGCGTGAGATGTGCCATGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCG GCGTGAGATGTGCCATGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGC TCGCCCGTGTGAGATG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(535): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	439	0.0023	542	c.-16 others(553): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(535): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	439	0.0023	542	c.-16 others(553): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(535): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02523.hp2 HG02040.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0196 a0001c0001t0002g0201 a0001c0001t0001g0196 a0001c0001t0002g0201	2	439	0.0046	542	c.-16 others(553): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(535): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	439	0.0023	542	c.-16 others(553): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(535): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCTGTCCGGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCCGGCCACCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCACCGCCTGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	362	0.0028	542	c.-27 others(559): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGTGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGGCCGGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCCGGACAGGGCGGCCGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTC CCGGACGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCT CCCGGACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(535): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCTC CTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCC TCCTCCCTTCCTCCCTCCTTCCCTCCCGTCCTCCCTTCCTCCCTCCCTCC CTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGC CTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTT CCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCC CTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	350	0.0029	542	c.-15 others(553): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCC CTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCA CCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCCGTCCTCCC TTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTC CTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCC TCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTC CTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
PASK_chr2_241101099_241154472	241115688	C C	CCGGTCCC others(535): Show CCGGTCCCCAAGCATGCCATTACACCAGGGGCCACCGGTCCCCAAGCATC CCATTACACCGGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGGC CACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCA TCCCATTACGCCAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGG GCCACCGGTCCTCAAGCATTCCATTACACCGGGGCCACCCGGTCCCCAAG CATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAG GGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCA AGCATCCCATTACGCCAGGGACATCCGGTCCTCAAGCATCCCATTACGCC AGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCC CAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACA CCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0002 a0012c0035t0002	a0012c0035t0002g0240 a0012c0035t0002g0241 a0012c0035t0002g0240 a0012c0035t0002g0241	2	376	0.0053	542	c.307 others(559): Show c.3073-276_3073-275insTGGCCCTGGTGTAATGGGATGCTTGGGG ACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGT GTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGA GGACCGGTGGCCCCTGGCGTAATGGGATGCTTGAGGACCGGATGTCCCTG GCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTT GGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCC TGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCGGTGTAATGGAATGC TTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTC CCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGAT GCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTG GCCCCGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGC ATGCTTGGGGACCG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PDCD6_chr5_266646_319974	318267	T T	TCCCCCCT others(535): Show TCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCC TGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCC ACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCAATCCTTCACCTCCCCC CTCCCTTCATCTCCCCCCTCACCCTGCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	360	0.0028	542	c.37 others(553): Show c.3752_*3753insCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCAT CTTTTACCTCCCCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTGCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCC TCCACCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3294		chr5	TogoVar
PKP3_chr11_389209_409908	401197	C C	CGCCCCGC others(535): Show CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCG CTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	216	0.0046	542	c.173 others(559): Show c.1737+493_1737+494insCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTCCCTCT others(535): Show CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	227	0.0044	542	c.23 others(553): Show c.2397_*2398insTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(535): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCATTCATTCAT TCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAGGCAG TGACCTAGGCTCTGGGACAAAGTCGTGACGAAAACAAGCAAAACTCCTTT TCCTCGTGAAGCTTACTGTCTAGCATGAGAGTCAAACTGGAGACATCAAT TGTCAGGACAAAGGTGGTGGGAGGATAGACTTGTTTCTTTTGTTTGTTTA TTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAACAAACA CTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTTTGGG GTTGGGAGTGATGGCAAGAACACAGGGTAAACTGAGTCAGCGGTGTGTCT CCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGCGACACC CTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGGTCCG GTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0006 a0002c0006t0001g0282 a0002c0006t0001g0006 a0002c0006t0001g0282	2	328	0.0061	542	c.164 others(559): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCATTCATTCATTCATTCATTCATCCAACAAATACCATGGAACA CCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGACAAAGTCGTGACGAA AACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTGTCTAGCATGAGAGT CAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAGACTT GTTTCTTTTGTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATCATTT CAACTATAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAG CAGGCAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGTAAAC TGAGTCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTA GCCTACCTGTGCGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCC TTCAGCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGG TCTCTATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(535): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCATTCATTCAT TCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAGGCAG TGACCTAGGCTCTGGGACAAAGTCGTGACGAAAACAAGCAAAACTCCTTT TCCTCGTGAAGCTTACTTTCTAGCATGAGAGTCAAACTGGAGACATCAAT TGTCAGGACAAAGGTGGTGGGAGGATAGATTTGTTTCTTTTGTTTGTTTA TTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAACAAACA CTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTTTGGG GTTGGGAGTGATGGCAAGAACACAGGGTAAACTGAGTCAGCGGTGTGTCT CCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGCGACACC CTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGGTCCG GTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(162): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0007 others(22): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0021 a0001c0022 a0001c0025 a0001c0027 a0001c0030 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0017 a0002c0018 a0002c0023 a0002c0026 a0002c0031 a0005c0016 a0006c0028 a0009c0019 a0010c0032	a0001c0001t0003 a0001c0002t0001 a0001c0007t0003 others(25): Show a0001c0001t0003 a0001c0002t0001 a0001c0007t0003 a0001c0008t0003 a0001c0009t0002 a0001c0010t0003 a0001c0013t0003 a0001c0021t0004 a0001c0022t0002 a0001c0025t0001 a0001c0027t0003 a0001c0030t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0004t0002 a0002c0005t0001 a0002c0006t0001 a0002c0006t0002 a0002c0017t0002 a0002c0018t0002 a0002c0023t0001 a0002c0026t0001 a0002c0031t0001 a0005c0016t0002 a0006c0028t0001 a0009c0019t0002 a0010c0032t0003	a0001c0001t0003g0022 a0001c0001t0003g0088 a0001c0001t0003g0093 others(158): Show a0001c0001t0003g0022 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0178 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0294 a0001c0001t0003g0305 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0002t0001g0296 a0001c0007t0003g0177 a0001c0007t0003g0279 a0001c0007t0003g0303 a0001c0008t0003g0114 a0001c0008t0003g0243 a0001c0008t0003g0292 a0001c0008t0003g0295 a0001c0008t0003g0314 a0001c0008t0003g0315 a0001c0008t0003g0316 a0001c0008t0003g0319 a0001c0008t0003g0320 a0001c0009t0002g0018 a0001c0009t0002g0087 a0001c0010t0003g0229 a0001c0010t0003g0230 a0001c0010t0003g0232 a0001c0010t0003g0233 a0001c0010t0003g0285 a0001c0010t0003g0289 a0001c0010t0003g0297 a0001c0013t0003g0301 a0001c0013t0003g0302 a0001c0013t0003g0304 a0001c0021t0004g0009 a0001c0022t0002g0008 a0001c0025t0001g0019 a0001c0027t0003g0293 a0001c0030t0002g0007 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0012 a0002c0003t0002g0023 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0058 a0002c0003t0002g0067 a0002c0003t0002g0069 a0002c0003t0002g0180 a0002c0003t0002g0207 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0236 a0002c0003t0002g0239 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0247 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0253 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0260 a0002c0003t0002g0261 a0002c0003t0002g0262 a0002c0003t0002g0263 a0002c0003t0002g0264 a0002c0003t0002g0265 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0271 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0283 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0003t0002g0321 a0002c0003t0004g0272 a0002c0003t0006g0044 a0002c0004t0002g0001 a0002c0004t0002g0013 a0002c0004t0002g0094 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0101 a0002c0004t0002g0104 a0002c0004t0002g0107 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0112 a0002c0004t0002g0141 a0002c0004t0002g0191 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0215 a0002c0004t0002g0224 a0002c0004t0002g0225 a0002c0004t0002g0242 a0002c0004t0002g0244 a0002c0004t0002g0245 a0002c0004t0002g0246 a0002c0004t0002g0248 a0002c0004t0002g0250 a0002c0004t0002g0298 a0002c0005t0001g0026 a0002c0005t0001g0031 a0002c0005t0001g0033 a0002c0005t0001g0074 a0002c0005t0001g0201 a0002c0006t0001g0010 a0002c0006t0001g0020 a0002c0006t0001g0038 a0002c0006t0001g0062 a0002c0006t0001g0063 a0002c0006t0001g0068 a0002c0006t0001g0070 a0002c0006t0001g0092 a0002c0006t0001g0126 a0002c0006t0001g0213 a0002c0006t0001g0234 a0002c0006t0001g0286 a0002c0006t0001g0287 a0002c0006t0001g0290 a0002c0006t0001g0291 a0002c0006t0001g0323 a0002c0006t0002g0317 a0002c0017t0002g0252 a0002c0018t0002g0089 a0002c0023t0001g0123 a0002c0026t0001g0238 a0002c0031t0001g0156 a0005c0016t0002g0105 a0006c0028t0001g0179 a0009c0019t0002g0102 a0010c0032t0003g0284	165	328	0.5031	542	c.164 others(559): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCATTCATTCATTCATTCATTCATCCAACAAATACCATGGAACA CCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGACAAAGTCGTGACGAA AACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTTTCTAGCATGAGAGT CAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAGATTT GTTTCTTTTGTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATCATTT CAACTATAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAG CAGGCAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGTAAAC TGAGTCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTA GCCTACCTGTGCGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCC TTCAGCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGG TCTCTATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(535): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCATTCATTCAT TCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAGGCAG TGACCTAGGCTCTGGGACAAAGTCGTGACGAAAACAAGCAAAACTCCTTT TCCTCGTGAAGCTTACTTTCTAGCATGAGAGTCAAACTGGAGACATCAAT TGTCAGGACAAAGGTGGTGGGAGGATAGATTTGTTTCTTTTGTTTGTTTA TTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAACAAACA CTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTTTGGG GTTGGGAGTGATGGCAAGAACACAGGGTAAACTGAGTCAGCGGTGTGTCT CCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGGGACACC CTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGGTCCG GTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(81): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18947.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18966.hp2 NA18978.hp2 NA18979.hp1 NA18985.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19056.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0002c0003 a0002c0005 a0002c0024 a0003c0014 a0004c0015	a0001c0001t0003 a0001c0001t0005 a0001c0007t0003 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0007t0003 a0001c0012t0004 a0002c0003t0002 a0002c0005t0001 a0002c0024t0001 a0003c0014t0003 a0004c0015t0001	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(80): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0143 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0273 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0005g0060 a0001c0007t0003g0135 a0001c0007t0003g0136 a0001c0007t0003g0137 a0001c0007t0003g0189 a0001c0012t0004g0030 a0001c0012t0004g0053 a0001c0012t0004g0057 a0001c0012t0004g0211 a0002c0003t0002g0223 a0002c0005t0001g0002 a0002c0005t0001g0083 a0002c0005t0001g0084 a0002c0005t0001g0085 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0197 a0002c0005t0001g0198 a0002c0005t0001g0199 a0002c0005t0001g0202 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0309 a0002c0024t0001g0086 a0003c0014t0003g0043 a0003c0014t0003g0061 a0004c0015t0001g0193 a0004c0015t0001g0200	84	328	0.2561	542	c.164 others(559): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCATTCATTCATTCATTCATTCATCCAACAAATACCATGGAACA CCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGACAAAGTCGTGACGAA AACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTTTCTAGCATGAGAGT CAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAGATTT GTTTCTTTTGTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATCATTT CAACTATAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAG CAGGCAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGTAAAC TGAGTCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTA GCCTACCTGTGGGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCC TTCAGCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGG TCTCTATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(535): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCACCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGC TCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCA AGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTC ATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCC CAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	392	0.0026	542	c.329 others(559): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGTGCAGTGGAGCTG GGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGAT GAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCACCAG CCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RABL6_chr9_136802948_136846187	136803290	C C	CCCAGGGC others(535): Show CCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	330	0.0030	542	c.-49 others(553): Show c.-4907_-4906insCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4657		chr9	TogoVar
RBFOX3_chr17_79084345_79616051	79555318	G G	GATGGAGA others(535): Show GATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTAATGGTGATTA TATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGATGATAGTCATGATGG TGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGTGATTATGAGA GTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGGCGATGATGGT GGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGG TAACGGTGGTGATAATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTG GTAATGGTGATCATGTCAGTGATGGTGGTGGTGGTGATGATAGTAATGAT GGTGGTGATGGTGGTGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGG TGATTATGATAGTAGTGATGGTGATGGCAATGGTAATGGTGATAATGGCG ATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGAT AATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	154	0.0065	542	c.-32 others(563): Show c.-320+55507_-320+55508insTATTATCACCACCGTTACCACCAC CACTGCCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCA CTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACC ATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCAT TGCCACCACCATCACCACCATCATTACTATCATCACCACCACCACCATCA CTGACATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATC ACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTAC TATCATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCG CCATCACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACC ATTGCCATCACTATCACCACCATCATGACTATCATCACCATCACCACCAC CACCACCATCACTGACATATAATCACCATTACCACCACCACCATTATCAC TGTCATCATCATCTCCAT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar

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Search Results (Total: 10000 hits)