Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(800): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCA CTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	807	c.-27 others(818): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(800): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATTTT ATATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATTATATAATATATTATATATAATATATATTATA TATTATATATTATATAATATATATATAATATATTATATATTATATATTAT ATAATATATTATATATAATATATATTATATATTATATATTATATAATATA TAATATATAATATATTATATATATATTATATAATATATTATATATATAAT ATATTATATAATATATTATATATATATTATATAATATATTATATATATAA TATATATTATATATAATATATATAATTGTATATATAATATATAATATATA ATATATAATATATATAATATATAATATATAATATATATAATATATAATAT ATAATATATAATATATATAATATATAATATATAATATATAATATATAATA TATAATATATAAAATATATATATAAAATATATTATGTATTATATATTATA TAATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	86	0.0116	807	c.683 others(826): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATATATAATATATTATATATTAT ATATTATATAATATATTATATATAATATATATTATATATTATATATTATA TAATATATAATATATAATATATTATATATATATTATATAATATATTATAT ATATAATATATTATATAATATATTATATATATATTATATAATATATTATA TATATAATATATATTATATATAATATATATAATTGTATATATAATATATA ATATATAATATATAATATATATAATATATAATATATAATATATATAATAT ATAATATATAATATATAATATATATAATATATAATATATAATATATAATA TATAATATATAATATATAAAATATATATATAAAATATATTATGTATTATA TATTATATAATATATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGCG others(800): Show CGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGT GAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACG GAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGG TGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG AGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGA GGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGATGGAGTGG GTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGTTGACGGA GCGGGTGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	260	0.0039	807	c.717 others(824): Show c.717-2270_717-2269insCGGGTGCGGGTGCAGGTGAGGGTGCTGA TGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGA GGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAG GGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGG TGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGG GTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGT GAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGG TGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAG CGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGAT GGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACG GAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAG GGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTGTTGACGGAGCGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(800): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG GGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAG AGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGT GGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGT GAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT GGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTG GGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGG GGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGG GGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGG TTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG00099.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0120 a0001c0002t0002g0113 a0001c0001t0004g0120 a0001c0002t0002g0113	2	382	0.0052	807	c.-10 others(818): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGG TCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGT CCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCC ACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCA CTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCC CCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTC CAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCAC TAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCC CAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCC AAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACT TCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTT CCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTC CCCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACT CCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(800): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGAAGAGA GGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAG GGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGG GGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGG GAGGGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	272	0.0037	807	c.250 others(822): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCC TCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCC ACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCG CCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(800): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAG GGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAG GGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAG GAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGG GAGGGTGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	272	0.0037	807	c.250 others(822): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCC TTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTT CCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(800): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAG GGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAG GGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAG GAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGG GAGGGTGG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	272	0.0037	807	c.250 others(822): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCC TTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTT CCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(800): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGAATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0075 a0001c0032t0001g0075	1	134	0.0075	807	c.575 others(828): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC ACCTCCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGGCTGATTCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	398199	A A	ATCACCTC others(800): Show ATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATA TACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACCC CCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTCCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0114 a0001c0003t0001g0114	1	216	0.0046	807	c.106 others(824): Show c.1069-663_1069-662insCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATC ACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATA CCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC ACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATAT ACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTGCGTCACCTCCGTACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(800): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCTTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	227	0.0044	807	c.23 others(818): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCT CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(800): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGTGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAAGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC ACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAG GGGGCCCCGTGAGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGG GGAGGAGGGGGTCGCGTGGGGAGGAGGCGCCATGTGGGGAGGAGGGGGCC GCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGCCGCGAGGGGAGGAGGGGGCCGTGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGG CCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAG GAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGC GTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGGCCGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	67	0.0149	807	c.159 others(824): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCACGCGGCCCC CTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCG CGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGC CCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCC ACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGG CGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCC ACACGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCT CCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACATG GCGCCTCCTCCCCACGCGACCCCCTCCTCCCCACGCGCCCCCCTCCTCCC CACGCCTTCCCCTCCTCCTCACGGGGCCCCCTCCTCTCCTCACGGCCCCC TCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCG GCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCC CCACGGGGCCCCTTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGCCCC CTCCTCCCCTCGCGGCCCACTCCTCCCCATGTGGCCCCCTCCTCCCCATG CCTTCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099793	G G	GCAGCCCC others(800): Show GCAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCAGCC CCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCA CAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACA GCAGCCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCACA GCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCC CCCACAGCCCCCCACAGCACCCCCCACAGCCCCCACAGCAGCCCCCCGTA GCCCCCACCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCC CCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCC CCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCC CACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCA CAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGC CCCCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCC ACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCC CCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCAGCCCC CCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAG CCCCCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	67	0.0149	807	c.56- others(824): Show c.56-25957_56-25956insTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGGGGGCT GCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGG GGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGG GGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGG GCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGC TGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGG GGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTG GGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGG GCTGTGGGGGGTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGT GGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGTGG GGGCTACGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCT GCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGT GGGGGGCTGTGGGGGGCTGTGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(800): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01928.hp2 HG00735.hp2 HG01069.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0043 a0001c0001t0004g0002 a0001c0001t0004g0043	3	308	0.0097	807	c.-75 others(826): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATA AATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTA AATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAAT ATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(800): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03927.hp1 HG02293.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0187 a0001c0002t0003g0244 a0001c0002t0003g0187 a0001c0002t0003g0244	2	384	0.0052	807	c.157 others(826): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGCAGG others(800): Show GGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACTGTGGGG ACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGG AAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGTGCTAGGACACTGTGGGGACGTCCCCAGATGCCAGGGGCAGTGGAGA CAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGT GGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAG GAGGAGGAGGAGGAGGAACAGGAGGAGGGAGGAGGAGGAACAGCAGGAGG AGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCA CAGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	203	0.0049	807	c.-12 others(826): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTT CTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGG GACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCA TCTGGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTT CTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTTCTCCTCCTCCTCCTCCTCCTGCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(800): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0020 a0003c0004t0003g0020	1	256	0.0039	807	c.165 others(824): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(800): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGG GAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGA GGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCAGG GAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGG CAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGG GAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCA GGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGG GAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCA GGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGA GGGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20805.hp2 HG01255.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0003 a0001c0001t0001 a0002c0005t0003	a0001c0001t0001g0072 a0002c0005t0003g0118 a0001c0001t0001g0072 a0002c0005t0003g0118	2	132	0.0152	807	c.227 others(826): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCC TGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(800): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGG GAGGGAGGGTGGGAGGGAGGGGGAGGCAGGGAGAGGGAGGCAGGGAGACA GGGAGGCAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGA GAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGG GAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCA GGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGG GAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCA GGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGA GGGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG02109.hp2 others(1): Show HG00639.hp1 HG01167.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0032 a0001c0001 a0001c0007 a0001c0032	a0001c0001t0001 a0001c0007t0001 a0001c0032t0001 a0001c0001t0001 a0001c0007t0001 a0001c0032t0001	a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0007t0001g0040 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0007t0001g0040 a0001c0032t0001g0048	4	132	0.0303	807	c.227 others(826): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTC CCTGTCTCCCTGCCTCCCTCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTC TCCCTGCCTCCCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCTCCC TCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCC TGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(800): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCT GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAAATAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0384 a0001c0001t0031g0384	1	426	0.0024	807	c.125 others(826): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCTGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAAAATAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(800): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCC GCAAGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAAATAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0383 a0001c0001t0009g0383	1	426	0.0024	807	c.125 others(826): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCCGCAAGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAAAATAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAT others(800): Show TAAGAAATGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGAGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATAAAAAAAAAATAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01109.hp1 others(13): Show HG00323.hp2 HG00609.hp1 HG01109.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp2 HG02004.hp2 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02896.hp1 NA18959.hp1 NA18983.hp1 NA18985.hp2 NA18993.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017	a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0040 others(12): Show a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0040 a0001c0001t0005g0043 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0008g0010 a0001c0001t0008g0049 a0001c0001t0009g0311 a0001c0001t0009g0312 a0001c0001t0017g0380 a0001c0001t0017g0381	16	426	0.0376	807	c.125 others(826): Show c.125+10245_125+10246insCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCC TGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAG GGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTC GTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACA CTGAGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAAAAATA AAAAAAAAATAAAAAAAAAAAAGAAATGCCT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACCCTAC others(800): Show CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC ACCACACCCCACACACACCACACACCCCCCCACACCACACCACACCCCCA TACACACCACACCCCACACACACACACCCCATACACACCACACACCCCCA CACACACCACACACCCCACACACACACACCCCATACACCACACCCCCCAC ACACCACACACCCACACACACCACACCCCACACACACCACACACACAACC ACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACA CCACACCCCAACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACAACCACCCCCCATACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACCACACACCACACAAACCACACACCCTACACACCCCAC ACACACCACACACACACACACCCCACACACACCACACCCCACACACACCA CACACCCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCATACACACCCACACCCCACACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCCCACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACACACACCCCACACACACC ACCCCCAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	338	0.0030	807	c.35 others(826): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACACCACACCCCACACACACCACACACCCCC CCACACCACACCACACCCCCATACACACCACACCCCACACACACACACCC CATACACACCACACACCCCCACACACACCACACACCCCACACACACACAC CCCATACACCACACCCCCCACACACCACACACCCACACACACCACACCCC ACACACACCACACACACAACCACACCCCACACACACCACACACCCCCCAC ACACACCACACCCCATACACACCACACCCCAACACACACCACACCCCACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACAACCACCCCCCATACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCACCACACACCACACAAAC CACACACCCTACACACCCCACACACACCACACACACACACACCCCACACA CACCACACCCCACACACACCACACACCCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCATACACACCCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACACACACCCCACACACACCACCCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACCCTAC others(800): Show CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACACACCAC ACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACAAACCACACACCCTACACAACCCACACACA CCACACACCACACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	338	0.0030	807	c.35 others(826): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACAAACCACAC ACCCTACACAACCCACACACACCACACACCACACACACCCCACACACACC ACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACCCTAC others(800): Show CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACACACCAC ACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACACCACACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp2 HG02155.hp2 others(3): Show HG01346.hp1 HG01981.hp2 HG02155.hp2 HG03834.hp2 NA18985.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0268 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0268 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0290	6	338	0.0178	807	c.35 others(826): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACCACACACACCCCACACACACC ACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(800): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01928.hp1 HG01069.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0050 a0001c0001t0016 a0001c0001t0050	a0001c0001t0016g0127 a0001c0001t0050g0136 a0001c0001t0016g0127 a0001c0001t0050g0136	2	250	0.0080	807	c.82+ others(822): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(801): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATTATATATATTATATACATATAATATATATTCTCATATATAT TATATATACTCATATATATAATATATATTCTCATATATATATATTATATA TTCTCATATATATAATATATATATTCTCATATATAATATATATTCTCATA TATATAATATATACTCATATATTATATATATTCTCATATATTATATATAT ACTCATATATAATGTATATATTCTAATATATAATATATATTTTCTCATTT ATATAATATATATTCTCATATATAATATATATTCTCATATATGACATATT ATATATATTCTCATATATATTATATATTCTCATATATAATATATATTCTC ATATAATATATTATATATTCTCATATAATATATTATATATGCTCATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATATAATATA TTATATATGCTCATATATAATATATTATATATGCTCATATATAATATATT ATATATGCTCATATAATATATTATATATGCTCATATATAATATATTATGT ATGCTCATATATAATATATTATGTATGCTCATATATAATATATTATGTAT GCTCATATATAATATATTATGTATGAGCATATATAATATATTATGTATGA GCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA19001.hp2 HG02523.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0000 a0001c0001t0012g0000 a0001c0001t0002g0000 a0001c0001t0012g0000	2	416	0.0048	808	c.10 others(821): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATAATATATATGAGAATATATATAATATGTCATATATGAGAATATA TATTATATATGAGAATATATATTATATAAATGAGAAAATATATATTATAT ATTAGAATATATACATTATATATGAGTATATATATAATATATGAGAATAT ATATAATATATGAGTATATATTATATATATGAGAATATATATTATATATG AGAATATATATATTATATATATGAGAATATATAATATATATATATGAGAA TATATATTATATATATGAGTATATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATAATATATACATATATACATATAATATATAAACATATAATATATAATAT ATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144531192	G G	GAGCAGCA others(801): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCAGCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	246	0.0041	808	c.298 others(825): Show c.2981-322_2981-321insTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531192	G G	GAGCAGCA others(801): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCAGCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0028 a0001c0002t0009g0028	1	246	0.0041	808	c.298 others(825): Show c.2981-322_2981-321insTGCTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687393	C C	CGAGCACT others(801): Show CGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCAC TGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTT CCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCA CGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAG CACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGT GACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCG GCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACAC TGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCA CACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAG CACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGG CGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0040 a0001c0001t0012g0040	1	246	0.0041	808	c.-17 others(819): Show c.-1790_-1789insACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCA GTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGG AAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCA GTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1548		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(801): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	808	c.202 others(825): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCT GGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C1QTNF8_chr16_1083226_1101244	1093202	A A	AGCACACA others(801): Show AGCACACAGTCGACGCTCAACCAATCACAGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGTGTTCAACCAATCACAGCACACAGTCGGCGT TCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCACAGCACACAGT CGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCA CACAGTCGGCGTTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATC CCTGCACACAGTCGGCGTTCAACCAATCACAGCACACAGTCGGCACTCAA CCAATCACAGCACACAGTCGGCGTTCAACCAATCCCTGCACACAGTCGGC GCTCAACCAATCCCTGCACACAGTCGGCGCTCAGCCAATCACTGCACACA GTCGGCGCTCAACCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTG CACACAGTCGGCGCTCAATCACAGCACACAGTCGGCGCTCAATCAATCCC TGCACACAGTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATC AATCCCTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGC TCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGT CGGCGCTCAACCAATCCGTGCACACAGTCGGTGCTCAACCAATCACTGCA CACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATC CCTGCACACAGTCGGTGCTCAACAAATCACAGCACACCGTCGGCGCTCAA TCAATTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0052 a0001c0001t0030g0052	1	396	0.0025	808	c.4+ others(821): Show c.4+294_*4+295insAGGAATTGATTGAGCGCCGACGGTGTGCTGTG ATTTGTTGAGCACCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCACCGA CTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAG CGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCAG GGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCTGTGATTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACT GTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGCTGAGCG CCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGGT TGAACGCCGACTGTGTGCTGTGATTGGTTGAGTGCCGACTGTGTGCTGTG ATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGT GCAGGGATTGGTTGAACGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGA CTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAG CGCCGACTGTGTGCAGGGATTGGTTGAACGCCGACTGTGTGCTGTGATTG GTTGAACACCGACTGTGTGCTGTGATTGGTTGAGCGCCGACTGTGTGCTG TGATTGGTTGAGCGTCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1orf159_chr1_1076823_1121089	1078529	G G	GAGGGGTG others(801): Show GAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGC TGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGT TGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGC TGAGGCTATGGGGACTCCGTGGCGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTG GGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	326	0.0031	808	c.43 others(819): Show c.4363_*4364insACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGG AGTCCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCGT CCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATA GCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGG AGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCT CCCGGCACGGAGTCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAG CCACAGCCACCCGGCACGGAGTCCCCCATAGCCACAGCCACCCCGCACGG AGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCT CCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAG CCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGA GTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTC CCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGA GTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTC CCCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGA GTCCCCATAGCCTCAGCCACCCCT	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3293		chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531192	G G	GAGCAGCA others(801): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	808	c.-22 others(819): Show c.-2277_-2276insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2082		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531192	G G	GAGCAGCA others(801): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAA GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	808	c.-22 others(819): Show c.-2277_-2276insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2082		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(801): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0009 a0005c0003t0009	a0005c0003t0009g0180 a0005c0003t0009g0180	1	338	0.0030	808	c.300 others(825): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(801): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0001 a0014c0038t0001	a0014c0038t0001g0286 a0014c0038t0001g0286	1	398	0.0025	808	c.666 others(823): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGCCCC others(801): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	398	0.0025	808	c.666 others(823): Show c.666+432_666+433insCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(801): Show GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19087.hp1 NA19000.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	398	0.0050	808	c.666 others(823): Show c.666+436_666+437insTCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC77_chr12_396644_447642	419606	A A	AAACACAC others(801): Show AAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACAT AGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGT GCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCA GCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0330	1	432	0.0023	808	c.413 others(823): Show c.413+972_413+973insCACACATAGCAGCACACTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGC AGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCAC ACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(801): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	322	0.0031	808	c.165 others(825): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(801): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	322	0.0031	808	c.165 others(825): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(801): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0287 a0001c0001t0051g0287	1	322	0.0031	808	c.165 others(825): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(801): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	322	0.0031	808	c.165 others(825): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(801): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	322	0.0031	808	c.165 others(825): Show c.165+2194_165+2195insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCC GCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCG GCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGGGCGCTGACCCCCCC	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(801): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0310 a0001c0001t0012g0310	1	336	0.0030	808	c.248 others(825): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(801): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	336	0.0030	808	c.248 others(825): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(801): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG02155.hp1 others(4): Show HG00673.hp1 HG00673.hp2 HG02155.hp1 HG03704.hp2 NA18951.hp2 NA19087.hp2 NA19089.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0011 a0001c0002 a0008c0011	a0001c0002t0002 a0001c0002t0004 a0008c0011t0002 a0001c0002t0002 a0001c0002t0004 a0008c0011t0002	a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0029 others(4): Show a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0029 a0001c0002t0002g0039 a0001c0002t0002g0195 a0001c0002t0004g0011 a0008c0011t0002g0044	7	204	0.0343	808	c.223 others(829): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAG GTAAAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAA TTTACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGG AATACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCA ATTAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGA ATTAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGA TTTTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTG TAACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAA TGTCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAAT ATATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAG GTGGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACA CGTGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAAT ACGGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGA AGCCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATC TCTCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATC CCTCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(801): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCA CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCC CCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0107 a0001c0002t0107	a0001c0002t0107g0235 a0001c0002t0107g0235	1	270	0.0037	808	c.162 others(829): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCC CTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCT CCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCC TTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(801): Show TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGG AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCC CTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTC ATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGA CCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACC CTACAGTCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	159	0.0063	808	c.811 others(825): Show c.811-1792_811-1791insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACT CATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACC CCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCC CTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTG GTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(801): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGG AGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAG GGAAGAATGGAGGAAGGGAGGGAGGGAGGGGAGAATGGAGGAAGGGAGGG AGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAA GAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGG AGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAG GGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGTGG AAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAA GAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGG AAGAATGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAG GGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGG AAGGAAGAGTGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAA GAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0066 a0001c0039t0066	a0001c0039t0066g0080 a0001c0039t0066g0080	1	126	0.0079	808	c.415 others(829): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCTCTCCATTCTTCCACTCTTCCCTCCC TCCATTCTTCCCTCCCTCCATTCTTCCATTCTTCCCTCCCTCTCTGCATT CTTCCCTCCCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACC TCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTC CCTCCCTCCATTCTTCCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCA TTCTCCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTC CATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCCTCCCTCCT TCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTC CCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTC TGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar

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Search Results (Total: 7053 hits)