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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(827): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0277 a0001c0001t0011g0277	1	296	0.0034	834	c.368 others(851): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGT AGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGG GTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCG GCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA CGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGAGGAAC others(827): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCA ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGGGAACAGCG ACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACAC GGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	350	0.0029	834	c.30 others(845): Show c.3078_*3079insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTG TCGCTGTTCCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTC CTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTG TTGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(827): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCC TTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0092 a0001c0001t0012g0092	1	276	0.0036	834	c.100 others(853): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTC TCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(827): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTT CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACC CTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCC CCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCT CCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTC CCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCT TCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCC TTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCC CCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCC CTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACT CCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0014 a0002c0016t0014	a0002c0016t0014g0080 a0002c0016t0014g0080	1	278	0.0036	834	c.115 others(851): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCT CCCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCC CCTCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCC CTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTC CCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTC CCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCT TCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCT CCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCC ACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCC CTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(827): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGA GGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAG GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	272	0.0037	834	c.250 others(849): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC TCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCTCACCCC TTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCC CCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCT TTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTT CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(827): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAG GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTG GAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0040 a0004c0004t0011g0040	1	272	0.0037	834	c.250 others(849): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCTTCCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCC CCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCC TTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(827): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGG GGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGG AGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGG AGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGG AGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAG GGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	272	0.0037	834	c.250 others(849): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTT CCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(827): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC ACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCGCACCCCCTACCCCGGC CCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCG GCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCC CGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTAC CCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCT ACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCC CCTACCCCGGCCCCCGGCACTCACCTTCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCTGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0047 a0005c0007t0011g0047	1	394	0.0025	834	c.-7- others(847): Show c.-7-114_-7-113insGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGAAGGTGAGTGCCGGGGGCCGGGGT AGGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGG GGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGG CCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGG GGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCG GGGGCCGGGGTAGGGGGTGCGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690605	T T	TATATATA others(827): Show TATATATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATTTCAATA TAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAA TATATATATTTAAATATAAGTATATATATAAAAATATATATATTTAAATA TAAGTATATATATAAAAATATATATATTTAAATATAAGTATATATATAAA AATATATATATTTAAATGTAAGTATATATATAAAAATATATATATTTAAA TATAAGTATATATATAAATATATATATTTAAATATAAGTATACATATAAA TATATATATTTAAATATAAGTATACATATAAATATATATATTTATATATA AGTATACATATAAATATATATATTTATATATAAGTATATATATAAATATA TATTTATATATAAGTATATATATATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTATATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTGTATATATATAAATATATATATTTATA TATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATA TATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATA TATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0047 a0001c0002t0012g0049 a0001c0002t0012g0047 a0001c0002t0012g0049	2	326	0.0061	834	c.358 others(851): Show c.358+3347_358+3348insCAATATAAGTATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATAT ATATTTAAATATAAGTATATATATAAAAATATATATATTTAAATATAAGT ATATATATAAAAATATATATATTTAAATGTAAGTATATATATAAAAATAT ATATATTTAAATATAAGTATATATATAAATATATATATTTAAATATAAGT ATACATATAAATATATATATTTAAATATAAGTATACATATAAATATATAT ATTTATATATAAGTATACATATAAATATATATATTTATATATAAGTATAT ATATAAATATATATTTATATATAAGTATATATATATTTATATATAAGTAT ATATATAAATATATATATTTATATATAAGTATATATATATATTTATATAT AAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATAT ATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTAT ATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAA ATATAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATAT ATATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(827): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGAGGGGGAGGGAG GAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGA GGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGAT GAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGA GGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGG AGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGG GAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	208	0.0048	834	c.279 others(849): Show c.279+365_279+366insCCCTCCCTTCTCCTCCTCTCCACTCCTCTT CCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTCCCGCA CCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCACTCCTC CCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCCTTTCC TCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTC CCCTCCTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCCTCCC TTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCT CTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(827): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGT AGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACT AGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0230 a0001c0006t0001g0230	1	244	0.0041	834	c.342 others(853): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACT AGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTT TAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAGTTTAAACT ATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTAAACTATATAAACTATATAGTTTAAAACTATATATAAACTATA TAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATA GTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(827): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAG ACGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGA GGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGAT GGGAGGGGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAG GGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAG AGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGG AGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGG GGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGG GGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGG AAGACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACA GGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	326	0.0031	834	c.162 others(853): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCT CCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCC CTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCG TCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCT CCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCCCCCTC TTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCG TCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCC TCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTT CCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCT TCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCTCTCCTCC TCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTC TTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTT CCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2124202	G G	GTCATGGT others(827): Show GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGG TGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	286	0.0035	834	c.335 others(853): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGT TAGGATCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(827): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGTCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0293	1	295	0.0034	834	c.126 others(853): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGTCC TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(827): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	304	0.0033	834	c.66+ others(849): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(827): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCT GCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCC CTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CACACCCAGACCCCCTCTAACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	118	0.0085	834	c.125 others(851): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCT others(827): Show CTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0147 a0002c0005t0001g0142 a0001c0004t0001g0147 a0002c0005t0001g0142	2	160	0.0125	834	c.688 others(851): Show c.688-2426_688-2425insCCTCCTCCACTTCCTCCTCCACCTCCTC CTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACC TCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCT ACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTC CTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCT CCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(827): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCTGGGGGGCCAGCGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTG GAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	422	0.0024	834	c.64 others(845): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACT CCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCCCCCGCTGGCCCCCCAGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(827): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0306 a0001c0005t0036g0306	1	322	0.0031	834	c.597 others(851): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTT CCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(827): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGT CCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACA CCCCTGTCCCCAGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGAC CCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGG ACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCTCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	388	0.0026	834	c.22 others(845): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGG TCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGG GGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGG GGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGGTCCTGGGGACAGGG GTGTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAG GACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747431	G G	GCTGGGGT others(827): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	314	0.0032	834	c.189 others(849): Show c.189-882_189-881insTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(827): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACA CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTA AAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCCGTCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACC ATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACAT ACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	224	0.0045	834	c.225 others(853): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAGGGTATGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGT CTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTC TTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ATACACAC others(827): Show ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACACACATCACATACCACA CACACATCACATACCACACACAAACCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCAACACACACA TCACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCTACACACACCACACACCCCACACACACATCACACACCACACACAC CACACACACCCCACACACACCACACACACACATCACATACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACCACACAC ACACACCACACACACATCACATACCACACACAAACCACACACCCCCACAC ACCCCACACACCCCACACACACCACACACCCCACACACACACCACACACC CCCACACACACATCACATACCACACACAAACCACACACCCCACACACCCC ACACACCACACACACACCACACACACATCACATACCACACACAAACCACA CACCCTACACGCACCACACACCCCACACACACCACACACCCGACACACGC CACACACACACCACACACCCCACGCACACATCACATACCACACACAAACC ACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	338	0.0030	834	c.35 others(853): Show c.35+22414_*35+22415insTACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACC ACACACACACATCACATACCACACACACATCACATACCACACACAAACCA CACACCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCAACACACACATCACACACCACACACCCCACACACACA TCACATACCACACACAAACCACACACCCTACACACACCACACACCCCACA CACACATCACACACCACACACACCACACACACCCCACACACACCACACAC ACACATCACATACCACACACCCGACACACGCCACACACACACCACACACC CCACGCACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACCACACACACACACCACACACACATCACATACCAC ACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACAC ACCCCACACACACACCACACACCCCCACACACACATCACATACCACACAC AAACCACACACCCCACACACCCCACACACCACACACACACCACACACACA TCACATACCACACACAAACCACACACCCTACACGCACCACACACCCCACA CACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCAC ACATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCC ACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
U2AF2_chr19_55650035_55679716	55670538	A A	ACCCTGCT others(827): Show ACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTCTGTCCGTGCACCCTGCTGTCCGTGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCGGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGTTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCCTGCCACCCTGCTGTCCCTGCACCCCTG CTGTCCCGTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCCGTGCACCCTCGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	394	0.0025	834	c.129 others(851): Show c.1293+862_1293+863insCCCTGCTGTCCCGTGCACCCTGCTGTCC TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTCTGTCCGTGCACCCTGCTGTCCGTGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCGGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGCCCGTGCACCCTGCTGTTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCCCTGCCACCCTGCTGTCCCTGCAC CCCTGCTGTCCCGTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTCGCTCCCTGCTGTC CGTGCA	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(827): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	341	0.0029	834	c.25 others(843): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(827): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATAATATATTATAAATAATATATTATATATTATATAATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA TATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0269 a0001c0001t0035g0269	1	302	0.0033	834	c.-1- others(851): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATAATATATTATAAATAATATATTAT ATATTATATAATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATATTATATATTATAAATAATATATTATATATTATAAATAATATAT TATATATAATATGTTATATATTATAAATAATATATTATATATAATATGTT ATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(827): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATAATATAT TATAAATAATATATTATATATTATATAATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA TATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(4): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01981.hp2 HG02698.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0277 others(4): Show a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0005g0274 a0001c0001t0017g0272 a0001c0001t0017g0273	7	302	0.0232	834	c.-1- others(851): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATATAATATATTATAAATAATATATTATATATTATATAATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATATTATATATTATAAATAATATATTATATATTATAAATAATATAT TATATATAATATGTTATATATTATAAATAATATATTATATATAATATGTT ATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(827): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGAAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAG GAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGG GAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGG AGGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAG GGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGG TGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGG GAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGA GGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAA GTGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0107 a0001c0003t0010g0107	1	126	0.0079	834	c.-28 others(853): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTC CCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCC CCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC CTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCTCCCCACCCTTC TCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTC CCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCT CCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCC CCCTTCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCAC CCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(828): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTATAT ATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	182	0.0055	835	c.505 others(854): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(828): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG TATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19007.hp2 HG00140.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0134 a0002c0002t0002g0055 a0002c0002t0001g0134 a0002c0002t0002g0055	2	182	0.0110	835	c.505 others(854): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(828): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGG GGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGG GAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	835	c.51 others(846): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCC TCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTC CCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCC CCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCC TCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTC CTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTC CCCCTCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCC C	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(828): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCA CCCCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	226	0.0044	835	c.217 others(854): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCCGGCCA GCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(828): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGCGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0215 a0002c0002t0004g0215	1	226	0.0044	835	c.217 others(854): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGCGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1116978	A A	ACGGACCG others(828): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTAC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGACATCAC TGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGA CATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGA TGATGACACCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCAC GCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGAC GCCCACGCAGGATGATGACATCACTACAGCTCTACGGACCGGCTTCCATC ACCGACGCCCACGCAGGATGATGACACCACTGCAGCTCTACGGACCGGCT TCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGA CCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACATCACTACAGCTC TACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTA CAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACA TCACTACAGTTCTACGGACCGGCTTCCATCACTGACGCCCACGCAGGATG ATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGC AGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGC CCACGCAGGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACAGA CGCCCACGCAGGATGATGACATCACTACAGTTCTAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	326	0.0031	835	c.129 others(854): Show c.129+10278_129+10279insGTAGAACTGTAGTGATGTCATCATCC TGCGTGGGCGTCTGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCA TCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATG TCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCA GTGATGTCATCATCCTGCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGA ACTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTC CGTAGAACTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAG CCGGTCCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGC TGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGT CGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGGTGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGATGTCATCATC CTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGT GGTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGC TGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG TAGAGCTGCAGTGATGTCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGT CCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(828): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAG TAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0047 a0047	a0047c0082 a0047c0082	a0047c0082t0003 a0047c0082t0003	a0047c0082t0003g0072 a0047c0082t0003g0072	1	338	0.0030	835	c.300 others(852): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(828): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTA CTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAAC CCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTATGT CCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTC ACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATCCCCCC CTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCACCT TCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTC CTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCTACTATTCCCCC GCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACC TTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCAACCCTCCC ACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0152 a0001c0001t0057g0152	1	242	0.0041	835	c.266 others(852): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTAGCGGGGG AATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGA GGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTG AGTAGTAGGGGGGGATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGT TGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGT GGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATA GTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGG AAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTG GGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAAT AGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGT TGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTA GTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAA ATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAA GGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGG AAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CAAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0190 a0001c0001t0024g0190	1	336	0.0030	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCAAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	2	336	0.0060	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18995.hp2 NA18991.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0002 a0001c0001t0054	a0001c0001t0002g0208 a0001c0001t0054g0185 a0001c0001t0002g0208 a0001c0001t0054g0185	2	336	0.0060	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19088.hp2 HG02148.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0230 a0001c0013t0002g0250 a0001c0001t0002g0230 a0001c0013t0002g0250	2	336	0.0060	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(828): Show TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATTTATATATATATTTTTATATATTTATA TATATTTTTATATATTTATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTTTATATATTTATATATATTTATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATATTTATATATATTTATATATATATATTTATATATATTTATATATA TATATTTATATATATTTATATATATATATTTATATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATGTATATTTATATATTTATATATATTTATATATA TATTTATATATTTATATATATTTATATATATATTTATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATATATTTATATATTTATATATATTTATATATTTA TATATATTTATATATATATTTATATATTTATATATATTTATATATATATT TATATATTTATATATATTTATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	94	0.0106	835	c.-2+ others(852): Show c.-2+56296_-2+56297insTATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATATATATAAATATATATAAATATATAAATATACATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATATAAATATATATATATAAATATATA TAAATATATATATATAAATATATATAAATATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATATATAAAAATATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATAAATATATA AAAATATATATAAATATATAAAAATATATATATAAATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3725566	A A	AGAGGAAG others(828): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGT GGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18969.hp1 NA18995.hp1 others(4): Show NA18952.hp2 NA18969.hp1 NA18995.hp1 NA19003.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001	a0002c0003t0001g0210 a0002c0003t0001g0215 a0002c0003t0002g0209 others(4): Show a0002c0003t0001g0210 a0002c0003t0001g0215 a0002c0003t0002g0209 a0002c0003t0003g0211 a0002c0003t0003g0214 a0002c0003t0003g0220 a0002c0004t0001g0194	7	324	0.0216	835	c.340 others(852): Show c.340-1405_340-1404insCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAG GGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(828): Show GCTATAACCATCACCACTACCACTACTACCACTACTACAACCATTACCAC CATCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCATCA CCACTATAACCACCACTACCACCACCACCACTATAACCACCACCACCACC ACTATAACCACCATCATCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTGTAACCATCACCACCATCACCACTATAACCACCA CTACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCATC ATCATCACCACCACTACCACTACTGTAACCATCACCACCACCACTGCTAT AACCATCACCACTACCACTACTACCACTACTACAACCATTACCACCATCA CTGCTATAACCACCACCACCACCACCATTATCACCATCACCATCACACAC CACAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCA CTACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC CATCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACC ACCACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCAC CACCACCACCATCACTATAACCATCACCACCATCACCACTATAACCACCA CTACCACCACCACCATTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	230	0.0044	835	c.724 others(854): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAATGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGAT GGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAG TGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTT ATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGT TATAGTGATGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATG GTTATAGTAGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGT GGTAGTTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGT GGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGATGG TGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTG GTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGA TGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DOCK1_chr10_126900428_127457516	126947266	C C	CTACTGTT others(828): Show CTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGA TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTA TTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0017 a0001c0049t0002g0017	1	136	0.0074	835	c.47- others(852): Show c.47-23391_47-23390insATGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPP6_chr7_154047398_154899285	154062984	T T	TTACGATC others(828): Show TTACGATCCGACGGGTCCGAATGCAGCTCGGGAACAGAAAGAAAGCAGGT TATTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCT TAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATTAGC CGAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGACCCGGAACTTTTGAA ATGGGGATCCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCAATCTGACAAAGCCTTTTCCATTG TGTGCGTCAGAGAGAGAAAAGACGGCAGCTGAAATTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGCAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTAGAGGGCCTTGGCAGCAACTGCCCTG CTAGTGCAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGGCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTTCCCCCCTGGCT GTTGGGACCCCCATCGCAGGGAGGGAGGCACCCGCCACGAGGCAGGGAAT GAGAGCCAGTCCCTCTTCCCCCCTGGCTCTGAGGACCCCCATCGCAGGAG GGGGAGGCACCCCCAATGAGAGTGGGCACTGAGAGCTATCCCCTCTTCCG CCCCTGGCTGTTAGTACTCCCATCGCAGGGGGGGAGGAACCCCTCGCGAC GCGGGGACTGAGAGCGAGCCCCTCTTCCCCCCTTTGCTCTTAGGACCCCC ATCGCTGGGGGCGGAGGCACCCCCCACGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0004 a0002c0009t0004g0004	1	38	0.0263	835	c.243 others(852): Show c.243+9921_243+9922insTACGATCCGACGGGTCCGAATGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTGCAGTATTAGCCGAGCCTTTGTATGAGGTCACAAAGGGGG CGGGGACCCGGAACTTTTGAAATGGGGATCCCAACAACAGCAAGTTTTTC ATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCAAT CTGACAAAGCCTTTTCCATTGTGTGCGTCAGAGAGAGAAAAGACGGCAGC TGAAATTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGCAGCCTACG TCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTAGAGG GCCTTGGCAGCAACTGCCCTGCTAGTGCAAGAAGCAAATAAGCTGATTCT TGGGCAAAACCTGAACATAAAGGGCCCCCATTTTGTGATGGCTGAGATCC ATCCCCTCTTCCCCCCTGGCTGTTGGGACCCCCATCGCAGGGAGGGAGGC ACCCGCCACGAGGCAGGGAATGAGAGCCAGTCCCTCTTCCCCCCTGGCTC TGAGGACCCCCATCGCAGGAGGGGGAGGCACCCCCAATGAGAGTGGGCAC TGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGTACTCCCATCGCAGG GGGGGAGGAACCCCTCGCGACGCGGGGACTGAGAGCGAGCCCCTCTTCCC CCCTTTGCTCTTAGGACCCCCATCGCTGGGGGCGGAGGCACCCCCCACGA GGCAGGG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(828): Show CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	384	0.0026	835	c.215 others(852): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAT CCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCT GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(828): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT GTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGTGCTGC TGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCACGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	384	0.0026	835	c.215 others(852): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCTCTT CTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTC AAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATG CTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGA GCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTG GGTGTCAAGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTG TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCT GGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAG GCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCT GTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGG TGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EML5_chr14_88607431_88797953	88796329	A A	ATATATAT others(828): Show ATATATATATTATATGTTATATATTTTATATATATATTATATGTTATATA TATTATATATATATTATATGTTATATATTTTATATATATATTATATGTTA TATATATTATATATATTTTATATATATATTATGTTTATATATTATATATA TTATATATATTATATGTTATATATATTATATATATTATATATCTTATATG TTATATATATTATATATATATTATGTTATATATATTATATATATTATGTT ATATATAATATATATTATATGTTATATATGTTATACATATTATATGTTAT ATGTTATATATATTATATATGTTATATGTTATATATTATATATATTATGT ATATTATATGTTATATATATTATATATATTATGTATATTATATGTTTTAT ATATTATATATTATATATATTATATGTTTTATATATTATATATTATATAT ATTATATGTTATATATATTATATATTATATACATTATATGTTATATATAT TATATATTATATATATTATATGTTATATATATTATATATTATATATATTA TATGTTATATATATTATATATTATATATATTATATGTTATATATATTATA TATTATATATATTATATGTTATATATATTATATATTATATATATTATATG TTATATATATTATATATTATATATATTATATGTTATATATATTATATATA TTATATATATATTATATGTTATATATATTATATATATATTATATGTTATA TATATTATATATATATTATATGTTATATATATTATATATATATTATATGT TATATATATTATATATATATTATATGTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	332	0.0030	835	c.-38 others(846): Show c.-3827_-3826insATATATATAACATATAATATATATATAATATATA TAACATATAATATATATATAATATATATAACATATAATATATATATAATA TATATAACATATAATATATATATAATATATATAACATATAATATATATAT AATATATATAATATATATAACATATAATATATATAATATATAATATATAT AACATATAATATATATAATATATAATATATATAACATATAATATATATAA TATATAATATATATAACATATAATATATATAATATATAATATATATAACA TATAATATATATAATATATAATATATATAACATATAATATATATAATATA TAATATATATAACATATAATGTATATAATATATAATATATATAACATATA ATATATATAATATATAATATATAAAACATATAATATATATAATATATAAT ATATAAAACATATAATATACATAATATATATAATATATATAACATATAAT ATACATAATATATATAATATATAACATATAACATATATAATATATATAAC ATATAACATATAATATGTATAACATATATAACATATAATATATATTATAT ATAACATAATATATATAATATATATAACATAATATATATATAATATATAT AACATATAAGATATATAATATATATAATATATATAACATATAATATATAT AATATATATAATATATAAACATAATATATATATAAAATATATATAATATA TATAACATATAATATATATATAAAATATATAACATATAATATATATATAA TATATATAACATATAATATATATATAAAATATATAACATATAATATATAT A	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3377		chr14	TogoVar
EXD3_chr9_137301896_137428162	137329795	G G	GGCTACAC others(828): Show GGCTACACGGGACTACACGGGGTGACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACGG GGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACG GGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACA CGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGACTA CACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCT ACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGC TACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGG CTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGG GCTACACGGGACTACACGGGAGCTACACGGGACTACACGGGACTACACGG GACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACAG GAACTACACAGGGTCACACAGGACTACACCGGAGCTACACGGGACTACAC AGGACTACACAGGACTATGCAGGACCACACAGGAGCTATACAGGAGCTAC ACGGGACTACACAGGACTACACGGGACTACACCGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	82	0.0122	835	c.199 others(854): Show c.1999-5653_1999-5652insTCCGGTGTAGTCCCGTGTAGTCCTGT GTAGTCCCGTGTAGCTCCTGTATAGCTCCTGTGTGGTCCTGCATAGTCCT GTGTAGTCCTGTGTAGTCCCGTGTAGCTCCGGTGTAGTCCTGTGTGACCC TGTGTAGTTCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACC CTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGC CCCGTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAG CCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTA GTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCC GTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCC CGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTC CCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTC CCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM120C_chrX_54063324_54188254	54117354	A A	AAAAATAA others(828): Show AAAAATAAAATAAAATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TGAAATAAAATGAAATAAAATGAAATAAAATGAAATAAAATGAAATAAAA TGAAATAAAATGAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0178 a0001c0001t0032g0178	1	190	0.0053	835	c.206 others(852): Show c.2063-561_2063-560insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTCATT TTATTTCATTTTATTTCATTTTATTTCATTTTATTTCATTTTATTTCATT TTATTTCATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATTTTATT TTATTTT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar

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Search Results (Total: 7053 hits)