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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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
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(908): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACG GGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGT GTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0077 a0001c0004t0001g0077	1	294	0.0034	915	c.153 others(934): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(908): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGAT GTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGT GTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	294	0.0034	915	c.153 others(934): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCATCCCGAGACACCACT CACACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCAC ACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACC CATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCAT CCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACC CATCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859228	G G	GTGTCACG others(908): Show GTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGG TGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATG GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCACGGGACGGGTGTGAGTGGTGTCTCGAGACGGGTGTGCAGTGATG TCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0004 a0003c0009t0001g0004	1	294	0.0034	915	c.153 others(934): Show c.1530-4523_1530-4522insTCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGTGACATCAGTGCACACCCGTCCCGAGACATCACTGCA CACCCGTCTCGAGACACCACTCACACCCGTCCCGTGACATCACTCACACC CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGTGA CATCACTGCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACAC CACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCA CTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCA CACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACAC CCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(908): Show TATATATATTATATACATATTTTGTATATATAATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATATTATATACATAT TTTATATATATAATATATATATTATATACATATTTTATATATATAATATA TATTATATACATATTTTATATATATTATATATTATATACATATTTTATAT ATATAATATATATATTATATACATATTTCATATATATAATATATATTATA TACATATTTCATATATAATATATATATTATATACATATTTTATATATTAT ATATATTATATACATATTTTATATATTATATATATTATATACATATTTTA TATATAATATATATAATATACATATTTTATATATTATATACATATTTTAT ATATATAATATATATAATATACATATTTTATATATATAATATATATAATA TACATATTTTATATATATAATATATATAATATACATATTTTATATATATA ATATATATAATATACATATTTTATATATATAATATATATAATATACATAT TATATATATAATATATATAATATACATATTTTATATATATAATATATAAT ATACATATTTTATATATAATATATATTATATACATATTTTATATATATAA TATATATTATATACATATTTTATATATATAATATATATTATATACATATT TTATATATATAATATATATTATATACATATTTTATATATATAATATATAT TATATACATATTTTATATATATAATATATATTATATACATATTTTATATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	108	0.0093	915	c.648 others(934): Show c.648-15376_648-15375insGTATATATAATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATTATATATTATATACATATTTTATA TATATAATATATATATTATATACATATTTCATATATATAATATATATTAT ATACATATTTCATATATAATATATATATTATATACATATTTTATATATTA TATATATTATATACATATTTTATATATTATATATATTATATACATATTTT ATATATAATATATATAATATACATATTTTATATATTATATACATATTTTA TATATATAATATATATAATATACATATTTTATATATATAATATATATAAT ATACATATTTTATATATATAATATATATAATATACATATTTTATATATAT AATATATATAATATACATATTTTATATATATAATATATATAATATACATA TTATATATATAATATATATAATATACATATTTTATATATATAATATATAA TATACATATTTTATATATAATATATATTATATACATATTTTATATATATA ATATATATTATATACATATTTTATATATATAATATATATTATATACATAT TTTATATATATAATATATATTATATACATATTTTATATATATAATATATA TTATATACATATTTTATATATATAATATATATTATATACATATTTTATAT ATATAATATATATTATATACATATTTTATATATATAATATATATTATATA CATATTTTATATATATAATATATATTATATACATATTTT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(908): Show CCTCCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCT CCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCC CTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCC CCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCC CTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTC ACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCT TCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGC TCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTT CCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCAT CCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTC TCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCC TCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCC CCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCC CCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATC TCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCC CCATCTCCCCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTC CCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCTCCACCCCTCCCCACTCTC CCTCCCCCTCTCCCCCTCTCCTCCCTTCTCCCCCACCCCTCGCCCTCCCC CTCTCCCCTTCCCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	276	0.0036	915	c.100 others(934): Show c.1005+3279_1005+3280insTCCCTCTCCATCACCCCCTCTCCATC ACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCC TCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCAT CCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTC CCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCT CTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCT TCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCC CTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCT CCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTT CCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCA TCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTT CTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTC TCCCCCTCTTCCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCC CTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATC TCCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTC CCCACTCTGCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCTCTCC CCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCTCCAC CCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCTCCCTTCTCCCCCAC CCCTCGCCCTCCCCCTCTCCCCTTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(908): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGA GGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	272	0.0037	915	c.250 others(930): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCG TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTC CCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCC CCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCC CCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(908): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAA GGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGG AGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGA GGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	272	0.0037	915	c.250 others(930): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCGTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCC TTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCT TTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTC TCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144233363	C C	CCTCCCCC others(908): Show CCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCT CCTGCACCCCACCATCTGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACC ATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCT CTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCC TGCACCCACCATCCACTTTCCCTCCCCCGCAGCTCCTGCACCCACCATCC ACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCT GCAGCTCCTGCACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCAC CCCACCATCCACCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACC TTCCCTCTCCCACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCA GCTCCTGCACCCACCATCCACTTTCCCTCCCCCGCAGCTCCTGCACCCAC CATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CCACCATCCACCTTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0011 a0008c0026t0001g0011	1	140	0.0071	915	c.133 others(934): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCTGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCG CCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCC GCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCAC CCACCATCCACTTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTT CCCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCTGCAGC TCCTGCACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCAC CATCCACCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCC TCTCCCACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCC TGCACCCACCATCCACTTTCCCTCCCCCGCAGCTCCTGCACCCACCATCC ACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCC GCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCT TCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(908): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	330	0.0030	915	c.-5+ others(930): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATA TATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAAT AAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(908): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTT TATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAG ATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTT ATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATA AGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATAT ATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0310 a0001c0001t0004g0310	1	330	0.0030	915	c.-5+ others(930): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATAT ATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATAA AATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAA GATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAAATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAAAT ATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(908): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTCCACGG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCAACCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAG TCATAACTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0045 a0045	a0045c0155 a0045c0155	a0045c0155t0002 a0045c0155t0002	a0045c0155t0002g0025 a0045c0155t0002g0025	1	249	0.0040	915	c.129 others(936): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGTTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTAAGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTAT GGCCGTGGAAGGTATGACCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAA GGTATGGATGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(908): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTCCACGG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATACCTTC CACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAG TCATAACTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0063 a0063	a0063c0165 a0063c0165	a0063c0165t0002 a0063c0165t0002	a0063c0165t0002g0027 a0063c0165t0002g0027	1	249	0.0040	915	c.129 others(936): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTAAGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACCGTGGAAGGTAT GGCCGTGGAAGGTATGACCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAA GGTATGGATGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777390	C C	CCTTACCT others(908): Show CCTTACCTTCCACACCCATATCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACACCCATACCTTCCACACCAATACCTTCCACACCCATACCTTC CACACCCATAGCTTCCACGCCCATACCTTCCACGGCCATACCTTCCACGC CCATACCTTCCACGGCCATACCTTCCACGCCCATACCTTCCACGCCCATA CCTTCCACATCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTC CACAACCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACGCCCATACCTTCCACGCCCATA CCTTCCACGGCCATACCTTCCACGCCCATACCTTCCACATCCATACCTTC CACGCCCATACCTTCCACATCCATACCTTCCACACCCTTACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATA ACTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACGCCCATACCTTCCACATCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG02145.hp2 HG01192.hp2 HG01346.hp2 HG02145.hp2	a0058 a0059 a0096 a0058 a0059 a0096	a0058c0200 a0059c0201 a0096c0130 a0058c0200 a0059c0201 a0096c0130	a0058c0200t0015 a0059c0201t0009 a0096c0130t0004 a0058c0200t0015 a0059c0201t0009 a0096c0130t0004	a0058c0200t0015g0234 a0059c0201t0009g0237 a0096c0130t0004g0238 a0058c0200t0015g0234 a0059c0201t0009g0237 a0096c0130t0004g0238	3	249	0.0121	915	c.129 others(934): Show c.12943+912_12943+913insACTGTGGAAGGTATGGGTGTGGAAGG TATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGATGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGG TATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAAGG GTGTGGAAGGTATGGATGTGGAAGGTATGGGCGTGGAAGGTATGGATGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGG GTGTGGAAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGTTATGGGTGTG GAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TAAGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGCGTGGAAGGTATGG ATGTGGAAGGTATGGGCGTGGAAGGTATGGCCGTGGAAGGTATGGGCGTG GAAGGTATGGGCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGTTGTGGAAGGTATGG GTGTGGAAGGTAAGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGCGTG GAAGGTATGGGCGTGGAAGGTATGGCCGTGGAAGGTATGGGCGTGGAAGG TATGGCCGTGGAAGGTATGGGCGTGGAAGCTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATTGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTG GAAGGTATGGGTGTGGAAGATATGGGTGTGGAAGGTAAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(908): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGC TGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	358	0.0028	915	c.143 others(930): Show c.143-267_143-266insCTCGCGGGGGGGCTCGCGGGGGGGCTGGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG GCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC AGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(908): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCT CTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC GTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	312	0.0032	915	c.306 others(934): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCT TCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(908): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTT CTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	312	0.0032	915	c.306 others(934): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTC CCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(908): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	286	0.0035	915	c.335 others(934): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC GTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT TAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX1_chr16_6014024_7718340	7147041	G G	GCGATCTC others(908): Show GCGATCTCGGCTCACTGCAAGCTCCGCCTACCGGGTTCACGCCACTCTCC TGCCTCAGCCTCCCAAGTAGCTTGGACTACAGGTACCCACCACCATGCTT GGCTAACTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCA CGATGGTCTCGATCTCATGACCTCGTGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCAAATGCGTTTTT TTCAACTGCAGTTGGTTCTAGTGTTTATTTGCATTTTGTTTTATTGCAGA CCTTCATGGCACTTGAAATCGGGCCTTGAGACTCCCACCGCAGTGGGTGC TGCGTATGTCACACTCAACACATGATTCTGTTAATTCACCAGCCAAGAGC CATCATGTGGCTGTGGTTTGAAGCCCAAGGACCCTTTAGGTTTACTCTTG CTTCATCTCATGGCCTCCACCTTGACATTGAGGCTGTTGCTGTGGGCGAG TACCTAGTTTATTTCTATGGAGAAATCTGATCAAACAGCATCTTGAGTTT GACAGCAAACAAGAAAAACCATAGGGTCAGTGACATTTAAAGGAGTCCCA TGGAAGCCATGATTGGGATAAGTGAAGACTGAAGAAAAACAAATGGGGGT TATTTTTCTAAGTGGGTTTTCAATAAGTAAGTTTTCAATAAGTAATTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGCAGGTATGCACTCTTTTGGG TCTTTTGCGTGTGTTAAATTTTTATTTTTTGCAATTTTTATTTTAGGTTC AAATACTACATGCACAGGTTTGTTACATGGGTAAATTGTTTATTTATTTA ATTATTATTATTATTATTATTTGAGATGGAGTCTCACTCTGTTGCCCAGG CTAGAGTGCAGTGGCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0043 a0003c0005t0003g0043	1	68	0.0147	915	c.27+ others(932): Show c.27+94944_27+94945insGATCTCGGCTCACTGCAAGCTCCGCCTA CCGGGTTCACGCCACTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGACTAC AGGTACCCACCACCATGCTTGGCTAACTTTTTTTATTTTTAGTAGAGATG GGATTTCACCATGTTAGCCACGATGGTCTCGATCTCATGACCTCGTGATC CACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAC GCCCAGCCAAATGCGTTTTTTTCAACTGCAGTTGGTTCTAGTGTTTATTT GCATTTTGTTTTATTGCAGACCTTCATGGCACTTGAAATCGGGCCTTGAG ACTCCCACCGCAGTGGGTGCTGCGTATGTCACACTCAACACATGATTCTG TTAATTCACCAGCCAAGAGCCATCATGTGGCTGTGGTTTGAAGCCCAAGG ACCCTTTAGGTTTACTCTTGCTTCATCTCATGGCCTCCACCTTGACATTG AGGCTGTTGCTGTGGGCGAGTACCTAGTTTATTTCTATGGAGAAATCTGA TCAAACAGCATCTTGAGTTTGACAGCAAACAAGAAAAACCATAGGGTCAG TGACATTTAAAGGAGTCCCATGGAAGCCATGATTGGGATAAGTGAAGACT GAAGAAAAACAAATGGGGGTTATTTTTCTAAGTGGGTTTTCAATAAGTAA GTTTTCAATAAGTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG CAGGTATGCACTCTTTTGGGTCTTTTGCGTGTGTTAAATTTTTATTTTTT GCAATTTTTATTTTAGGTTCAAATACTACATGCACAGGTTTGTTACATGG GTAAATTGTTTATTTATTTAATTATTATTATTATTATTATTTGAGATGGA GTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(908): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18975.hp2 NA18747.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0154 a0001c0001t0003g0155 a0001c0001t0001g0154 a0001c0001t0003g0155	2	304	0.0066	915	c.66+ others(930): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(908): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATTAT AAAATTATCTTTATTATAATAAAATAAATTATCTTTATTTTTATTATTAT AATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0162 a0005c0006t0002g0162	1	334	0.0030	915	c.45- others(930): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTT ATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTTA TTTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(908): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTT TATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTAT AAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTAT CTTTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTATAAAA TTATCTTTATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAA TTATCTTTATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAA TAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAA TAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATTATTATAAAA TAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAATA AATTATCTTTATTACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0102 a0010c0009t0001g0102	1	334	0.0030	915	c.45- others(930): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTTATTA TAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAAT AAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTATTTTATAATTATAAAATAAATTATCTTT ATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAATTATCTTT ATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAATTATCTTT ATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTT ATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAATAATCTTT ATTTTATTATTATAATAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(908): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGG TGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGATG GTGATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGT GAGGATGGTGGTGACGGTGGTCATGATGGTGATGATGGTGGTGATGATGA TGGTGATGGTGGTGGTGATGATGGTGATGGTAGTGATGATGGAGGTGACG GTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATG GTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGAT GGTGGTCATGATGGTGATGGTGGTGATGGTGGTGACGGTGGTGGTGGTGA TGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATGGTGATGATGATGGTGGCAATGGTGATGATGTGATGATGGTGGTG GTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATG GCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATG GTGGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTG ATGGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATG GTGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	915	c.-48 others(926): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGATGGTGGTGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGATGATGGTGATGGTGGTGATGGTGATGCTGATGGTGGTGGT GATGATGGTGATGGTGAGGATGGTGGTGACGGTGGTCATGATGGTGATGA TGGTGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAGTG ATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGGTGA TGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGATGGTG ATGGTAGTGATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGAT GGTGGTGGTGGTGATGGTGGTCATGATGGTGATGGTGGTGATGGTGGTGA CGGTGGTGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATGGTGATGATGATGGTGGCAATGGTGATGAT GTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTG GTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGC GATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATG GTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATG ATAGTGATGGCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(908): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAA AATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTG GGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTT AATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTAT ATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGG GTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAA ATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGGAGTCTCGC TGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAGC TCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAGG GTGCGTCACGTGCCTGTAATCCCAGCACTTTGGCAGGCCGAGGCCAGAGG ATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0050 a0001c0062t0001g0050	1	218	0.0046	915	c.120 others(934): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTT CCCTTTAAAATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAG TGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGA AATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATG GTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAAT GTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCA GAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGG AGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGT GATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGCAGGCCGAG GCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(908): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAA AATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTG GGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTT AATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTAT ATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGG GTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAA ATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGGAGTCTCGC TGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAGC TCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAGG GTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAGG ATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG01978.hp2 others(12): Show HG01123.hp1 HG01891.hp2 HG01978.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02523.hp1 HG02698.hp1 HG03834.hp2 HG03927.hp1 NA18964.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0032 others(1): Show a0001 a0002 a0032 a0034	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0001c0017 a0001c0020 a0001c0030 a0001c0036 a0001c0049 a0002c0053 a0032c0074 a0034c0042	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0014t0001 a0001c0017t0001 a0001c0020t0001 a0001c0030t0001 a0001c0036t0001 a0001c0049t0003 a0002c0053t0001 a0032c0074t0001 a0034c0042t0001	a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0002t0001g0124 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0005t0001g0155 a0001c0014t0001g0024 a0001c0014t0001g0025 a0001c0017t0001g0129 a0001c0020t0001g0197 a0001c0030t0001g0055 a0001c0036t0001g0111 a0001c0049t0003g0033 a0002c0053t0001g0106 a0032c0074t0001g0032 a0034c0042t0001g0104	15	218	0.0688	915	c.120 others(934): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTT CCCTTTAAAATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAG TGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGA AATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATG GTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAAT GTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCA GAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGG AGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGT GATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(908): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAAA CATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTG GGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTT AATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTAT ATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGG GTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAA ATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGGAGTCTCGC TGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAGC TCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAGG GTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAGG ATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01255.hp2 HG01257.hp2 others(8): Show HG00639.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02630.hp1 HG02735.hp2 HG03098.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 NA19043.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0017	a0001c0009 a0001c0018 a0001c0101 others(5): Show a0001c0009 a0001c0018 a0001c0101 a0001c0111 a0004c0115 a0006c0007 a0007c0039 a0017c0041	a0001c0009t0001 a0001c0018t0001 a0001c0101t0001 others(5): Show a0001c0009t0001 a0001c0018t0001 a0001c0101t0001 a0001c0111t0001 a0004c0115t0004 a0006c0007t0002 a0007c0039t0001 a0017c0041t0001	a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 others(8): Show a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0009t0001g0201 a0001c0018t0001g0160 a0001c0018t0001g0161 a0001c0101t0001g0041 a0001c0111t0001g0140 a0004c0115t0004g0216 a0006c0007t0002g0202 a0007c0039t0001g0031 a0017c0041t0001g0117	11	218	0.0505	915	c.120 others(934): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTC CCTTTAAACATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAG TGACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGA AATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATG GTGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAAT GTTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCA GAAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTGAGATGG AGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGT GATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(908): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAAAC ATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTGG GTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTTA ATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTATA TTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGGG TAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAAA TATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAGC TCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAGG GTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAGG ATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0083 a0018c0083	a0018c0083t0002 a0018c0083t0002	a0018c0083t0002g0211 a0018c0083t0002g0211	1	218	0.0046	915	c.120 others(934): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCC CTTTAAACATCAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGT GACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAA ATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGG TGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATG TTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAG AAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGT GATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38546744	G G	GAGTTTGA others(908): Show GAGTTTGAGACCAGCCCGGCCAACATGGTGAAAACCCATCTCTACTAAAA ATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCTCAGCTACT CAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAGAAATTACA GTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAAAAGCAAAA CTCCAGCTCAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCCCTTTAAAC ATGAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGTGACCCTGG GTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAAATAACTTA ATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGGTGATTATA TTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATGTTTAAGGG TAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAGAAAAAAAA TATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAAGC TCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAATAGCT GGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAG TAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGTGATGCAGG GTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAGAGG ATCTCTTGAGCCCAGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG01943.hp2 others(12): Show HG01070.hp1 HG01243.hp2 HG01943.hp2 HG02015.hp1 HG02074.hp1 HG03017.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA19000.hp2 NA19004.hp2	a0001 a0005 a0009 others(4): Show a0001 a0005 a0009 a0010 a0022 a0024 a0030	a0001c0019 a0001c0031 a0001c0034 others(10): Show a0001c0019 a0001c0031 a0001c0034 a0001c0035 a0001c0094 a0001c0116 a0005c0016 a0005c0107 a0009c0103 a0010c0021 a0022c0060 a0024c0061 a0030c0048	a0001c0019t0002 a0001c0031t0001 a0001c0034t0001 others(10): Show a0001c0019t0002 a0001c0031t0001 a0001c0034t0001 a0001c0035t0001 a0001c0094t0001 a0001c0116t0001 a0005c0016t0001 a0005c0107t0001 a0009c0103t0001 a0010c0021t0001 a0022c0060t0001 a0024c0061t0001 a0030c0048t0001	a0001c0019t0002g0217 a0001c0031t0001g0159 a0001c0034t0001g0180 others(12): Show a0001c0019t0002g0217 a0001c0031t0001g0159 a0001c0034t0001g0180 a0001c0035t0001g0113 a0001c0094t0001g0066 a0001c0116t0001g0121 a0005c0016t0001g0122 a0005c0016t0001g0123 a0005c0107t0001g0042 a0009c0103t0001g0146 a0010c0021t0001g0177 a0010c0021t0001g0178 a0022c0060t0001g0112 a0024c0061t0001g0044 a0030c0048t0001g0118	15	218	0.0688	915	c.120 others(934): Show c.12094+233_12094+234insCGGCCAACATGGTGAAAACCCATCTC TACTAAAAATACAAAAATTAGCCCGGCGTGGTAGCATGTGCCTGTAATCT CAGCTACTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGCAG AAATTACAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGTGACAA AAGCAAAACTCCAGCTCAAAAAAAAAAAAAAAAAAAAATCAGAAGGTTCC CTTTAAACATGAAGATTTCCAGCTTTTCTTGGAAAACTGTAAGCTTCAGT GACCCTGGGTCCACATTCTCACATGGCAAAAATTCGCTGGATTAGATGAA ATAACTTAATTATATCAATGTTAGATCTCTAGATGTTCATGATAGCATGG TGATTATATTAAACAATGTCCTTGTCTTTTAGGACATAGACACCGAAATG TTTAAGGGTAAAAGGACCGCATGTCTGCAACTTACTCTCAAATTGTTCAG AAAAAAAATATACAGAGAGAAAGAGAATTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAATAGCTGGGACTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCGAGAAAGAAAATGATAAAACAAATGT GATGCAGGGTGCGTCACGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCCAGAGGATCTCTTGAGCCCAGCAGTTTGAGACCAGCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	88/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(908): Show CGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCAAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC CGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	1	370	0.0027	915	c.284 others(934): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTTGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1098628	T T	TTCTAACC others(908): Show TTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC TCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCT CTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAA CCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCCCTT CTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCTCACCCA GCCCCCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCATG CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTG CTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCC TCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCATGCCCAGCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTC TAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCC CCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAG CCCCCCTCTAACCGTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCC AGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	915	c.125 others(932): Show c.125-4381_125-4380insGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAG GGTTAGGGGGGCTGGGTGAGCAGACGGTTAGAGGGGGGCTGGGCGTGCAG ACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGG GCATGCAGAGGGTTAGAAGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAAGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGT TAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGA GGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGG TGAGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGC TGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGG GGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGG TTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCA GAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(908): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATC ACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAA AAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAA ACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTC AGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACAT GTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGAT AATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACATT ATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGT TTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTA GAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTAC ACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18978.hp2 NA18991.hp2 others(3): Show NA18948.hp1 NA18978.hp2 NA18991.hp2 NA18995.hp2 NA19011.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0001c0001t0048	a0001c0001t0005g0283 a0001c0001t0012g0312 a0001c0001t0024g0019 others(2): Show a0001c0001t0005g0283 a0001c0001t0012g0312 a0001c0001t0024g0019 a0001c0001t0024g0326 a0001c0001t0048g0019	6	418	0.0144	915	c.-35 others(932): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCA CTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAA AAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAAA TTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTAA CTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAATT CCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTCT CTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCATT ACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATCT TTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGGA GGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTAT TATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC5A8_chr12_101150493_101215238	101180717	T T	TAAAAAAA others(908): Show TAAAAAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATAATAATAATAATA ATAATAATTTAAGATGTACATATATTCCATCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	375	0.0027	915	c.116 others(932): Show c.1166-622_1166-621insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGATGGAATATATGTACATCTTAAATTATTATTATTATTATTAT TATTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTC CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATA GTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTA TACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTAT TTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTT GAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCG CATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCT AACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGA TGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATG TCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTTTTT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	9/14			chr12	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(908): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	422	0.0024	915	c.64 others(926): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGC AACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(908): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAA GGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGG GAGGGAGGGAGAGGACGTGGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAG GAGGTGGGAGGGAGGGAGAGAAGGAGGTAGGAGGGGGAGAGAAGGTGGGA GGGGGAGAGAGAAGGAGATGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAG AGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAG AAGGAGGTGGGGGGAGACGAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTG GGGGGAGAGGAGGAGGTGGGAGGGGCGAGAGGAGGAGGTGGGAGGGGGGA GAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAG GGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAA GGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGG GAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	112	0.0089	915	c.638 others(930): Show c.638-306_638-305insGAGAGAGAAGGAGGTGGGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAGAGAAGG AGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGA GGGAGGGAGAGGACGTGGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGA GGTGGGAGGGAGGGAGAGAAGGAGGTAGGAGGGGGAGAGAAGGTGGGAGG GGGAGAGAGAAGGAGATGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAG AGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAA GGAGGTGGGGGGAGACGAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGG GGGAGAGGAGGAGGTGGGAGGGGCGAGAGGAGGAGGTGGGAGGGGGGAGA GGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGG GGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGGGA GGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGAGA GAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAAGG GGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGGGA GGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(908): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCT TCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCT TACCCCCTTCCTCTCTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0060 a0002c0003t0002g0060	1	334	0.0030	915	c.657 others(930): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCT CCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCT TCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917309	G G	GGGCTTGG others(908): Show GGGCTTGGAGGCTGTGGGATGGGGGTCGGGATGGGGCTCGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGC TCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GACGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0209 a0001c0010t0002g0209	1	344	0.0029	915	c.218 others(932): Show c.2183-102_2183-101insGGCTTGGAGGCTGTGGGATGGGGGTCGG GATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCAGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
AHRR_chr5_316714_443285	344714	G G	GGTGTGTG others(909): Show GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCG CGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGC TGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGT GTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	268	0.0037	916	c.62+ others(929): Show c.62+761_62+762insTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGA GGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(909): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCT TCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCT TACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0004 a0002c0001t0002g0004	1	354	0.0028	916	c.69 others(927): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCT CCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCT TCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287088	T T	TACAATGT others(909): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	448	0.0022	916	c.51+ others(931): Show c.51+2273_51+2274insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTAGTATACATACTACATGATATACATAGTAGTATA CATACTACATGATATACATAGTATGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(909): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18952.hp2 NA19062.hp2 HG00544.hp1 NA18952.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	448	0.0067	916	c.51+ others(931): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTATA CATACTACATGATATACATAGTATGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(909): Show TACTATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTAT GTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	448	0.0022	916	c.51+ others(931): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTAGTATACATACTACATGATA TACATAGTAGTATACATACTACATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(909): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	324	0.0031	916	c.101 others(933): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGG TCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTC CCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGG TCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(909): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAA GGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTC CCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCC CAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCG GGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTC CCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAACGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCC TCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0078 a0002c0005t0001g0078	1	167	0.0060	916	c.646 others(931): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCGTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGT CTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGAGGTGGGAG GGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGG TGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(909): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAG GGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0089	1	216	0.0046	916	c.923 others(935): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCC TCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(909): Show CCAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCACAG GAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCACAGGAAGGGACAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGG TGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAG GCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAG GGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGCCAGGCGGGCTGAG GGTCAGAGGAAGGGACAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGG GCTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCC AGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGA AGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTC ACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTG AGGGTCAGAGGAAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGC GGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGG ACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCAGAGGAAGGGGCAGGTGGGGTGAGGGGCACAGGAAGGGCCAGGCGGGA TAATGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGG GCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	345	0.0029	916	c.17 others(927): Show c.1711_*1712insCCCCTCACCCCGCCTGCCCCTCACCCCGCCTGTC CCTCACCCCGCCTGGCCCTTCCTCTGACCATTATCCCGCCTGGCCCTTCC TGTGCCCCTCACCCCACCTGCCCCTTCCTCTGACCCTCACCCCGCCTGGC CCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTC AGCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTG ACCCTCAGCCCGCCTGCCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTT CCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTCACCCCGCCTG TCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCCTCTGACCCTCACCC CGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTCTGACCC TCACCCCGCCTGTCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCCTG TGACCCTCAGCCCGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTGGCCC TTCCTGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCC TGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTCAG CCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCC TGTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTCACCCCGCCTGGC CCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTGTGACCCTCACCCCG CCTGTCCCTTCCTCTGACCCTCAGCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCT others(909): Show ACTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCC AGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGG ACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGT CCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGG GGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGG TCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGG GGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTG TCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCT GGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAG GTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCT GTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCT GGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTG GGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGG GTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG01934.hp1 others(5): Show HG00741.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG03710.hp1 NA18944.hp1 NA18950.hp1 NA18977.hp2	a0001 a0006 a0038 others(1): Show a0001 a0006 a0038 a0073	a0001c0001 a0001c0041 a0001c0067 others(3): Show a0001c0001 a0001c0041 a0001c0067 a0006c0026 a0038c0069 a0073c0034	a0001c0001t0001 a0001c0041t0001 a0001c0067t0001 others(3): Show a0001c0001t0001 a0001c0041t0001 a0001c0067t0001 a0006c0026t0002 a0038c0069t0001 a0073c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0041t0001g0159 a0001c0067t0001g0082 a0006c0026t0002g0081 a0038c0069t0001g0056 a0073c0034t0001g0055	8	170	0.0471	916	c.101 others(935): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGG GGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGG TCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGT CCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGG GGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGAT CTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCC TTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAG GGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG GAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCT others(909): Show ACTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCC AGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGG ACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGT CCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGG GGGGTTTGTCCTGGGGGAGTCTGTCCTGGGTGTGGTCTGTCCTGGAGGGG TCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGG GGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTG TCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCT GGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAG GTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCT GTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCT GGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTG GGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGG GTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0093 a0003c0019t0002g0093	1	170	0.0059	916	c.101 others(935): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGTGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGG GGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGG TCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGT CCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGG GGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGAT CTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCC TTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAG GGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG GAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914737	A A	ATCTCTGT others(909): Show ATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTC CACCGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCC CTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCC TCCCCTTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCC CCTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCC TCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTC TCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTGTCTC CCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTCCACCATCTCTGTCTC TCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCTG TCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTC TCTGTCTCTCCCTCCCCTTCCACCGTGTCTCCCCCCCTTTCCACCGTCTC TGTCTCTCCCCCCCTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATC TCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCC TTCCACCGTCTCTGTCTCTCCCCCCCTCCACCATCTCTGTCTCTCCCTCC CCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGT CTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCATCT CTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACC ATCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTC CCCTTCCACCATCTCTG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	330	0.0030	916	c.-13 others(933): Show c.-13-1806_-13-1805insCAGAGATGGTGGAAGGGGAGGGAGAGAC AGAGACGGTGGAAGGGGAGGGAGAGACAGAGACAGAGATGGTGGAAGGGG AGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAA GGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGACAGA GATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGA CAGAGATGGTGGAGGGGGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGA GACAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAG GGGAGGGAGAGACAGAGATGGTGGAGGGGGGGAGAGACAGAGACGGTGGA AAGGGGGGGAGACACGGTGGAAGGGGAGGGAGAGACAGAGACGGTGGAAG GGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTG GAAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAGGGGGGGAGAGACAGAGACGGTGGAAAGGGGGGGAGACACGGTG GAAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAG AGACGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAGGGGGGGAGAGAC AGAGACGGTGGAAAGGGGGGGAGACACGGTGGAAGGGGAGGGAGAGACAG AGACGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAG ACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGG AGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(909): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCACCACACCACA CCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACACA CTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATCAC ATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACACCA AACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACACA CCACATACCACACTCCACACCAAACCACACCACACCATATACCACACCAC ACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0055 a0001c0003t0002g0055	1	314	0.0032	916	c.310 others(931): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTGG TGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGG GTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGG CATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGT GTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTG TGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGT GGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTG TGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGG TGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTG GAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTG GCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTGGT GGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGTGT GTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGAGT GTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(909): Show CCACACCATTCCACACCATGCCACACACCACACACACTCCACACCAAACC ACACACAACCACTCCACACACACATCACACACCACACACCACTCCACACA CACACACACCACACACACATCACACACACCATTCCACCACACAACACACC ACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCACAC ACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGCAC ACCACACATCACACCACACACTACCACACCACACACCACTCCACACCACA TACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACACAA CGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACATCA CTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACCAC TCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACCAA ACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCACA CACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACACC ATGCCACACACACTACACCACACACACCACACACACCAAACCACACCACA CCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACACA CTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATCAC ATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACACCA AACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACACA CCACATACCACACTCCACACCAAACCACACCACACCATATACCACACCAC ACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp1 NA20300.hp1 HG01993.hp1 HG02148.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0186	3	314	0.0096	916	c.310 others(931): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPIHBP1_chr8_143208218_143222170	143218308	C C	CCCCCAAC others(909): Show CCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCAACACCACCCACCACCACCCACCACCAC CCACCACAAGGCCCAACACCACCCACAACTCCACCCCCCACACCACCCCC CACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACA CCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCAACACCACCCCCACACCGCCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCACAC CACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCACACCGCCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA CACCGCCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACAC CACCCCCACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCACACC GCCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAC ACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACC ACCCCCACACCGCCCCCAACACCATCCCCCACACCACCCCCAACACCACC CCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCA ACACCACCCCAATACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	106	0.0094	916	c.27 others(927): Show c.2790_*2791insCCCCAACACCACCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCAACACCACCCACC ACCACCCACCACCACCCACCACAAGGCCCAACACCACCCACAACTCCACC CCCCACACCACCCCCCACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACC CCCACACCGCCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCAACACC ACCCCCACACCGCCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCAACACCACCCCCACACCGCCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAA CACCACCCCCACACCGCCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAC ACCACCCCCAACACCACCCCCACACCGCCCCCAACACCATCCCCCACACC ACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCC CCAACACCAGCCCCAACACCACCCCAATACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1139		chr8	TogoVar

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Search Results (Total: 6036 hits)