Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(849): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGAG GGGGGGA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0052 a0001c0001t0050g0052	1	322	0.0031	856	c.597 others(873): Show c.597+1546_597+1547insTCCCCCCCTCCTCCTTCCTTTCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCC TTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(849): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTA GAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCAT GGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGG GGACAGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0087 a0002c0001t0087	a0002c0001t0087g0291 a0002c0001t0087g0291	1	352	0.0028	856	c.299 others(873): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TEX19_chr17_82354247_82368775	82360633	A A	AAGTTTCC others(849): Show AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCC CAGTTTCCCTCAAGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGATTCC CCCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCGAAGTTTCCCTCAAGTTCCCCTCAGGTT CCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGT TCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAG TTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAG GTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTCA AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCC CAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAAATTTCCC TCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCC CCAGATTCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAATTTC CCTCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTC CCCCAGATTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTT TCCCTCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01257.hp1 others(1): Show HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 others(1): Show a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038	4	380	0.0105	856	c.-27 others(875): Show c.-271-1247_-271-1246insAGTTTCCCTCAGGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTC CCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTT CCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCCCTCAAGTTTCCCTCAGT TTCCCTCAGGTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCGAAGT TTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCG GGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTC AGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCT CAGGTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCC CCAGTTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCC CTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTC CCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTC CCCCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAGTTT CCCCCAGTTTCCCTCAGGTTCCCCCAGATTCCCTCAAGTTTCCCTCAGTT TCCCCCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAGT TTCCCCCAGTTTCCCTCAGGTTCCCCCAGATTCCCTCAAGTTCCCCTCAG GTTCCCCCAGTTTCCCTCAAGTTTCCCTCG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(849): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	314	0.0032	856	c.189 others(871): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(849): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACCCTACACACCCCACACACACCACACACA CACATCACATACCACACACACATCACATACCACACACAAACCACACACCA CACACACACCACACACCCCACACACACATCACATACCACACACAAACCAC ACACCCAACACACACATCACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCTACACACACCACACACCCCACACACACAT CACACACCACACACACCACACACACCCCACACACACCACACACACACATC ACATACCACACACCCGACACACGCCACACACACACCACACACCCCACGCA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACCACACACACACACCACACACACATCACATACCACACACAAA CCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCCAC ACACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCCACACACCCCACACCACACACACACCACACACCCCACACACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACA CATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCCA CACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	338	0.0030	856	c.35 others(875): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACA CACCACACACACACATCACATACCACACACACATCACATACCACACACAA ACCACACACCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCAACACACACATCACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACATCACACACCACACACACCACACACACCCCACACACACCAC ACACACACATCACATACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACACACACCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACCACACACACACCACACACCC CACACACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370009	G G	GTGTGTGT others(849): Show GTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGTGT GTAAGGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATG TGTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTGTATGCGTGTGTA TATGCGTGTATATGCGTGTGTATGCGTGTGTATATGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGTGCGTGTATA TGTGTGTGTGTGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGTG CGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTG TATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTG TGTATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTATGTGTG TGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTATATGTGTGTGTATATGTGTTCATGTGTATGTGTGTAAGGTGT GTATGTGTGTGTATATGTGTGTGTGTATATGCATGTGTGTATGTGTGTAT GTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGCATGTGTGTATGT GTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGT GTGTATGCGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTATGTGTATATGTGTGTGTATGTGTGTGTGTATATGC GTGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0183 a0001c0002t0017g0183	1	468	0.0021	856	c.-6- others(871): Show c.-6-3699_-6-3698insGTATGTGTGTGTGTATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTTC ATGTGTATGTGTGTAAGGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTG TATGCGTGTGTATATGCGTGTATATGCGTGTGTATGCGTGTGTATATGTG TGTATGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATA TGTGCGTGTATATGTGTGTGTGTGTGTGTGTATATGTGTGTATATGTGTG TGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTG TGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGCGTGTG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGCATGTGT GTATGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGC ATGTGTGTATGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGCGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTATGTGTATATGTGTGTGTATGTGT GTGTGTATATGCGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(849): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGAAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGG AGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	167	0.0060	856	c.53 others(867): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTTCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTC ACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCC CTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTT CCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(849): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGAGAGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGG AGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	167	0.0060	856	c.53 others(867): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTC ACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCC CTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTT CCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTAGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	346	0.0029	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTAGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02145.hp2 HG02257.hp1 others(20): Show HG01358.hp2 HG02145.hp2 HG02257.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18612.hp2 NA20300.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0014 a0017	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0001c0035 a0002c0004 a0011c0036 a0014c0030 a0017c0024	a0001c0001t0006 a0001c0002t0010 a0001c0002t0019 others(7): Show a0001c0001t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0034 a0001c0016t0006 a0001c0035t0010 a0002c0004t0004 a0011c0036t0019 a0014c0030t0010 a0017c0024t0002	a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0164 others(20): Show a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0002t0010g0322 a0001c0002t0010g0323 a0001c0002t0010g0325 a0001c0002t0010g0326 a0001c0002t0010g0327 a0001c0002t0019g0155 a0001c0002t0034g0324 a0001c0016t0006g0151 a0001c0016t0006g0152 a0001c0016t0006g0153 a0001c0035t0010g0141 a0002c0004t0004g0230 a0011c0036t0019g0097 a0014c0030t0010g0321 a0017c0024t0002g0149	23	346	0.0665	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0305 a0001c0001t0006g0305	1	346	0.0029	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0001 a0001c0002t0032g0001	1	346	0.0029	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(849): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTTGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTT GTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGG TGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTG TGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTG ATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGG AAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGA TCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTT TGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGT TGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG TGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGT GTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGT GGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0039 a0001c0040t0039	a0001c0040t0039g0003 a0001c0040t0039g0003	1	346	0.0029	856	c.542 others(873): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTTGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCT GTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTG GAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTAT GTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGTT GTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGA TGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGT TATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAG GTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTG TGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTG AGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTG GAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(849): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGG GGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTG GGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGG AGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAA GGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGG GTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGG GGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTG GGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGG GAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGA GAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGA GGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAGAAG GGTGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0106 a0001c0003t0010g0106	1	126	0.0079	856	c.-28 others(875): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTC CCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCC CCACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCC CCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCAC CCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCC TCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCT TCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCT CCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCC TCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTTTCCTCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(850): Show TTCACAGGGTCAGAGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCT GGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGA GGGGTCACAGGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTC ACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGG TCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAG GGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGG TTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGTTCACAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGAC TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGACGGCTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCT GGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGG GGCTGGGGGAGGGCTCACAGGGTCAGGGTCAGAGGGAGGGTTCGAGAAGG GGCTGGGGGAGGACTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGG GGGAGGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03209.hp1 others(2): Show HG02486.hp2 HG03130.hp2 HG03209.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0092 a0001c0004t0024	a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 others(2): Show a0001c0001t0001g0226 a0001c0002t0008g0037 a0001c0002t0011g0228 a0001c0002t0092g0336 a0001c0004t0024g0041	5	337	0.0148	857	c.156 others(876): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCTCGAACCCTCCCT CTGACCCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAACCCTCCCCCAGCCCCTTCCAGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGA ACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCGTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTT CTCGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCC CTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGT GAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCC TCCCCCAGCCCCTTCCGGAACCCTCGCTCTGACCCTGTGAGCCCTCCCCC AGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCG TTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGG AACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCT CCCTCTGACCCTGTGAGCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(850): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC CGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAG CCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATC ACCTCAGCCCACCCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCC CCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACTCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACAT CACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0024	1	337	0.0030	857	c.61+ others(872): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTG TTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGG GGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGG TGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGT GTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGG TGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGGTGGACTGAGGTGACG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TGGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(850): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	298	0.0034	857	c.955 others(874): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(850): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCAGGAAGCCTG CAGACAAACCCACCCTCAACAGACACACAGAGGAGGGCAGGGAGCCTGCA GACAAACCCACCCTCGACAGACACACAGAGCGGGGCAGGGAGCCTGCAGA CAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCCTGCAGACAA ACCCACCCTTGACAGACACACAGAGCGGGACGGGAGCCTGCAGACAAACC CACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAGACAAACCCA CACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGACAAACCCACC CTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAAACCCACCCT CGACAGAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp2 HG01361.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0160 a0001c0001t0002g0163	2	266	0.0075	857	c.297 others(874): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCCG CTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCTCCT CTGTGTGTCTGTTGAGGGTGGGTTTGTCTGCAGGCTTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTTCCTGCCCTGCTCTGC GTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCTGCCCTCCTCTGTGT GTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCCCTGCCCTGCTCTGTGTGT CTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTG TCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGCTCTGTGTGTCTGTCG AGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTGTGTGTCTGTCGAGG GTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTG GGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGT TTGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCGGTCGATGGTGGGTTT GTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(850): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGG GGGGCTGACCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTG GGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0097 a0001c0001t0053g0097	1	322	0.0031	857	c.165 others(874): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCAA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(850): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	270	0.0037	857	c.162 others(878): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(850): Show CAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGC AGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAG CTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATG GAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGG TGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGA TAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGC GGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGC AATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATA TGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTA GGGGGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	272	0.0037	857	c.109 others(876): Show c.109+14824_109+14825insGATATGGGGGTAGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGA TAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGG GCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAG GCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGT GCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGAT AATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGG GGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGT TTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATAT GGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(850): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATC CACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGT CCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCAT CCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCA TCCATCCATCCATCCACCATCCATCCATCCACATCCATCCATTCATACAT CCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCAT CCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCA TCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCA TCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0076 a0002c0013t0003g0076	1	272	0.0037	857	c.110 others(874): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCACCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCA TTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCA TTCATTCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCC ACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTC ATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATC CATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATC CACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(850): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATC CATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCAT CCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCA CCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCC ACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCATTCAT ACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCAT TCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCA TCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCA TCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	272	0.0037	857	c.110 others(874): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCA CCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCA TCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCC ATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATT CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCA TCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCA TCCATTCATTCATCCATCCATCCATCCATCCATCCATCCACCATCCATCC ACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTC ATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCCATC CATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCATC CACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924426	A A	AGTCCCCA others(850): Show AGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCAACACTAACCCGGCCCCCACACTAACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCTCACACTAACCCAGCCCTCACACTAACCCAGC CCCCACACTAACCCGGCCACCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAAC CCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACA CTAACCCG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	350	0.0029	857	c.489 others(874): Show c.489-1297_489-1296insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACC CTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAACACTAACCCGGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCC AGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCACCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCACACTAACCCTAACCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCCACACTAACCCAGCCCCC ACACTAACCCAGTCCCCACACTAACCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647319	C C	CCTCCTCC others(850): Show CCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACAC CCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCC ACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCT TCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCT CATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCATCATCC TCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTC CTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTT CACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACA CTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCC TCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACA CCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCT CCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCC TCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTC CTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTT CACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCC CTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCC CCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	276	0.0036	857	c.51 others(868): Show c.5179_*5180insCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCA CCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCAC ACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCC TCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCT CCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGC ACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGC CTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAA CTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCC CCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCC TCCACCCCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTC CTCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCT CCACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCC GCCTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCC ACATCCCTCCTGCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATC CTCCACACTCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTC CTCCACACCCCTCCCCCTCACCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1975		chr15	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(850): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGATG GATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGA GGTGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTGGAC GGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGAT GGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGG ATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGAT GGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGG ATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGAT GGACAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19240.hp1 HG01358.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0150 a0001c0002t0001g0151	2	374	0.0054	857	c.772 others(872): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCACCTCCCCATTCATCCATCCACCCA CTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCCACC CACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCACCCA CCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCCATC CATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCATCCA TCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCCACC CACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCTCTCCATCCATCCACCCACCCACCCACC CACCTCCCCACCCATCCATCCTTCTATCCATCCATCCATCCATCCATCCA TCCATCCCTCCCCATCCATCCATCCATCCATCTCCCTACCCATTCATCCT TCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(850): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGA GGTGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGTGGAC GGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGAT GGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGG ATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGAT GGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGG ATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGAT GGACAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0066 a0001c0004t0001g0066	1	374	0.0027	857	c.772 others(872): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCACCTCCCCATTCATCCATCCACCCA CTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCCACC CACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCACCCA CCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCCATC CATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCATCCA TCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCCACC CACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCTCTCCATCCATCCACCCACCCACCCACC TCCCCACCCATCCATCCTTCTATCCATCCACCCATCCATCCATCCATCCA TCCATCCCTCCCCATCCATCCATCCATCCATCTCCCTACCCATTCATCCT TCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(850): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGG GGCAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	204	0.0049	857	c.978 others(874): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC1_chr3_12892043_13078429	12893377	G G	GCAGGCAC others(850): Show GCAGGCACCACCATGCCTGGTTAATGTTTTGATATTGTAGAACAAGGAGG GGCCACATGCTGTGACTCACCCCTGTAATCCCAGCCTGAGCAACACAGTG GAGACCTCCATCTCTACAATATCAAAACATTAACCAGGCATGGTGGTGCC TGGTTAATGTTTTGATATTGTAGAGATGGAGGTCTCACTGTGTTGCTCAG GCTGGGATTACAGGGGTGAGTCACAGCATGTGGCCCCTCCTTGTTCTTTG AAAAGTTCTCAGAGGGTGTGAGAAGAGATTCCAATTCAGGTATTCATCCT CTGGTATTTTCATTTTAGAATGTGTTCTTCCCTATTAACTACATAGAAAA TGACAAAGTGCTTCAGGTCCTACGTATCAGATTGTAATTGGAACACTTTA CTGTGAGGTGGGGGTGGGGTGTGGTTAGGAATAATAGACAAGAAAAGCTT TCCCTGAGGGCCTTGAAAGTCCTGAAGCTCCACGTTAGAAATGAGGGTGG GTGAAGATCACCCACCCTCATTTCTACCGTGGAGCTTCAGGACTTTCAAG GCCCTCAGGGAAAGCTTTTCTTGTCTATTATTCCTAACCACACCCCACCC CCACCTCCACAGTAAAGTGTTCCAATTAAATCTGATACGTAGGACTGAAG CACTTTGTCATTTTCTATGTAGTTAATAGGGAAGAACACATTCTAAAATG AAAATACCAGAGGATAATACCTGAATTGGAATCTCTTCTCACACCCTCTG AGAACTTTTCAAAGAAACAAGGAGGGGCCACATGCTGTGACTCACCCCTG TAATCCCAGCCTGAGCAACACAGTGAGACCTCCATCTCTACAATATCAAA ACATTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0105 a0001c0001t0024g0105	1	250	0.0040	857	c.76 others(868): Show c.7605_*7606insGTTAATGTTTTGATATTGTAGAGATGGAGGTCTC ACTGTGTTGCTCAGGCTGGGATTACAGGGGTGAGTCACAGCATGTGGCCC CTCCTTGTTTCTTTGAAAAGTTCTCAGAGGGTGTGAGAAGAGATTCCAAT TCAGGTATTATCCTCTGGTATTTTCATTTTAGAATGTGTTCTTCCCTATT AACTACATAGAAAATGACAAAGTGCTTCAGTCCTACGTATCAGATTTAAT TGGAACACTTTACTGTGGAGGTGGGGGTGGGGTGTGGTTAGGAATAATAG ACAAGAAAAGCTTTCCCTGAGGGCCTTGAAAGTCCTGAAGCTCCACGGTA GAAATGAGGGTGGGTGATCTTCACCCACCCTCATTTCTAACGTGGAGCTT CAGGACTTTCAAGGCCCTCAGGGAAAGCTTTTCTTGTCTATTATTCCTAA CCACACCCCACCCCCACCTCACAGTAAAGTGTTCCAATTACAATCTGATA CGTAGGACCTGAAGCACTTTGTCATTTTCTATGTAGTTAATAGGGAAGAA CACATTCTAAAATGAAAATACCAGAGGATGAATACCTGAATTGGAATCTC TTCTCACACCCTCTGAGAACTTTTCAAAGAACAAGGAGGGGCCACATGCT GTGACTCACCCCTGTAATCCCAGCCTGAGCAACACAGTGAGACCTCCATC TCTACAATATCAAAACATTAACCAGGCACCACCATGCCTGGTTAATGTTT TGATATTGTAGAGATGGAGGTCTCCACTGTGTTGCTCAGGCTGGGATTAC AGGGGTGAGTCACAGCATGTGGCCCCTCCTTGTTCTACAATATCAAAACA TTAACCAGGCATGGTGGTGCCTG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		3665		chr3	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(850): Show TAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGC GCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTG GATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCC TGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTG TAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGG AGGCGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGG CAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATA ATAATGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTG GGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTT GGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAG GTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGA AGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGC CAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAA AATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCG GTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACT CTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0000 a0001c0001t0020g0000	1	408	0.0025	857	c.-30 others(868): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTA TTGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAAT CTTGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCT CAGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTA ATTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGG TCTTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCT GGGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTA TTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79886216	T T	TGGGGACG others(850): Show TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACAGGAACATGGGGACACGGGACAGGGAGATGGGGATGG GAGCATAGGGACGTGGGGACGGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAACATGGGGACA CAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAACAT GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATA GGGACGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0285 a0002c0002t0002g0285	1	312	0.0032	857	c.625 others(876): Show c.625-12780_625-12779insGACGTGGGGACGGGGACATGGGGACA CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGAACAT GGGGACACGGGACAGGGAGATGGGGATGGGAGCATAGGGACGTGGGGACG GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGAACATGGGGACACAAGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGAACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(850): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCACTCCTCTCCCTCTCACTCCTCTCCCTCT CCCTCTCCCTCTCACTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCT CTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0081 a0006c0007t0009g0081	1	370	0.0027	857	c.-27 others(868): Show c.-2761_-2760insTGAGGGAGAGGGAGAGTGAGGGAGAGGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGTGAGAGGGAGAGGGAGAGGGAGAGGAGTGAGAGGGAGAGG AGTGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(850): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGG GGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	260	0.0039	857	c.624 others(874): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGAC AGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTC AGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGG TGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGG GGGGGTAGGGAGGATTTCAGGTGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(850): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAG GTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGA TGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTA GTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGT GGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGAT GGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA GAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAA AGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGAAGGTGATGGTGG TGGTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTG GTGATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTTGAGGGTGTGGT GGTAGTGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	274	0.0037	857	c.480 others(876): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCAACCATCACCACCATCACTTTCACTACCACCATCATC ACCACCATCACCTCCACCATTACCATCACCTCTACCATCACCTCTACCAC CACCACCATCACCTTCACTACCACCACACCCTCTGCCATCACCACCACCA CCATCACCTTCACTACCACCACACCCTCCACCATCACCACCATCACTTTC ACTACCACCATCACCACCATCACCTCCACCATTACCATCACCTCTACCAC CACCACCATCACCTTCACTACCACCACACCCTCCACCATCACCACCACCA CCATCATGATCATCTCCACCACCATCACCTCCACTACCATCACCTCCACC ACCACCACCATCACTACCACCATCACCTCGACTACCATCACCACCACCAC CATCACCTTCACTACCACCATCATTTCCATCATCGCCACCACCTCCTGTC ACCATCACCCCCACCACCACCATCACCATCACCTCTATCACCATCACCTC TACCAACACCATCACCACCACCACCACCATAACCTCTACCATCACCACTA CCATCACCATCTCCACCCCCACCACCACTATCACCACCTCCACCCCCACC ATCACCACCACCACCATAACCTCTACCACCAGCACCTCCACCACCACCAT CACCATCACCACCTCCATCCCCACCACCACCCCCCACCACCATCACCACC ACCATCACCAGCACCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(850): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCTCTCCTCCGCTCCCC TCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTC TCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCC TCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCT CCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCT CCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCT CCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTT GCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0061 a0001c0004t0006g0061	1	318	0.0031	857	c.-49 others(868): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGAGAGGAGCGGAGGAGAGGGGAGGGGAG CGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAG CGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAG GGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGA GAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGA GCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCAGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCA GTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGG AGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0106 a0001c0016t0001g0106	1	280	0.0036	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCTGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	280	0.0036	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTA GGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGT GAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGC AGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAG GAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGA GAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAG GGTGAGGAGGAGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	280	0.0036	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGT CCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCC CTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCC TTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTC CCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(850): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGAGGAGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCA GTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGG AGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAG AGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGG GTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGG AGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGAG GGGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	280	0.0036	857	c.641 others(872): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCTCCTCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCC TCCTCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(850): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTC CTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAAT GCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	442	0.0023	857	c.301 others(872): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACC CCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACG CTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGA AGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(850): Show ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATAT AAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATA TGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAA TCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTT TTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTT ATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTAT ATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTT TATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATAT ATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATA TATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAA AATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATG TTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATC TTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTT ATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTAT TTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATAT ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG01109.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0015 a0003c0004t0001 a0003c0004t0015	a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0059 others(1): Show a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0059 a0003c0004t0015g0058	4	330	0.0121	857	c.-5+ others(872): Show c.-5+3122_-5+3123insAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAA CATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATT TTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATA TATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTAT ATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATA AAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATAT ATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAAT AAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAA AACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGA TTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACA TATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTT ATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATA TAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATAT ATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAA ATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(850): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATATACATACATGGTATATATTCCA TATATATATACACATACATGGTATATATTCCATATATATATACACATACA TGGTATATATTCCATATATATATACACATACATGGTATATATTCCATATA TATATACACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCATATATACATACATG GTATATATTCCTATATATACATACATGGTATATATTCCAATATATACATA CATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATA TATACATACATGGTATATATTCCATATATATACATACATGGAATATATAT ATTCCATACATGGAATATATATATTCCATACATGGAATATATATATTCCA TATATACATATATATATTCCATATATACACATATATATATTCCATATATA CACATATACATGGAATATATATCTGTATATATATGGAATATATATATGTA TATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTAT AAATATATATTATGTATATATATTTATATTATAAATATATATTATGTATA TATTTATAATATAAATATATATTATGTATATATATTTATATTATAAATAT ATATTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	66	0.0152	857	c.474 others(876): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACATACATGGTATATATTCCATATATATATACACATACATGGTATATA TTCCATATATATATACACATACATGGTATATATTCCATATATATATACAC ATACATGGTATATATTCCATATATATATACACATACATGGTATATATTCC ATATATATATACACATACATGGTATATATTCCATATATACATACATGGTA TATATTCCATATATACATACATGGTATATATTCCTATATATACATACATG GTATATATTCCAATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATAT ATATACATACATGGAATATATATATTCCATACATGGAATATATATATTCC ATACATGGAATATATATATTCCATATATACATATATATATTCCATATATA CACATATATATATTCCATATATACACATATACATGGAATATATATCTGTA TATATATGGAATATATATATGTATATATATGAAATATATATGTATATGTA TTTATATTATGTATTTATATTATAAATATATATTATGTATATATATTTAT ATTATAAATATATATTATGTATATATTTATAATATAAATATATATTATGT ATATATATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(850): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGG GATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCA GGGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACA GTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGA GGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTG GGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0313 a0001c0008t0003g0313	1	324	0.0031	857	c.141 others(874): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCC CCCCCTCACCGTCCCTGCCCATCCCCCCCCTCACCGTCCCTGCCCATCCC CCCCGCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCA CTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCC CATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCCGCACCGTCCCTGCCC ATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(850): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACC ACCACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTC CACCACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCA CCACCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCC ACCACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTAC CTCCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTAC CACCACCACCACCACCCACCTCCACCACCTACCACTGCCACCACCACCAC CCACCTCCACCACCACCACCCACCTCCACCTCCACCACCCACCTCCACCT CCAGCACCCACCTCCACCCCTACCACCACCCACCACCACCACCACCCACC TCCACCACCTACCACCACCACCACCACCTACCTCCACCACCACCCACCTC CACCACCACCACCACCCACCTCCACCCCTACCACCACCACCACCACCCAC CTCCACCACCTACCACTGCCACCACCACCACCCACCTCCACCACCACCAC CCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCACCA CCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACC CCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCAC CACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCA CCTCCACC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18944.hp2 HG02165.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	406	0.0049	857	c.732 others(872): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCACCCACCTACACC ACCTACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCAC CACCCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCA CCACCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCC ACCCCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCAC CACCACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCAC CCACCTCCACCCCTACCACCACCACCACCACCCACCTCCACCACCTACCA CTGCCACCACCACCACCCACCTCCACCACCACCACCCACCTCCACCTCCA CCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCCACC ACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCTC CACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTACCAC CACCACCACCACCCACCTCCACCACCTACCACTGCCACCACCACCACCCA CCTCCACCACCACCACCCACCTCCACCTCCACCACACACCTCCACCACCT ACCACTGCCACCACCACCACCTACCTCCACCACCACCCACCTCCACCTCC AGCACCCACCTCCACCCCTACCACCACCCACCACCACCACCACCCACCTC CACCACCTACCACCACCACCACCACCTACCTCCACCACCACCCACCTCCA CCACCACCACCACCCACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946830	A A	AGGAGATG others(850): Show AGGAGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGAGGGAGAGAAGGAG AGGGGAGAGAGAAGGGGAGGAGGGAGACAAGGGGGTGAGAAGGGGAGGGG GAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGA GAGGGGGAGGAGAGGGGGAGGGGGAGGAGAGGGGTGAGAGAAGGGAGAGG GGGAGAGGAGGGAGAGGAAGGGGAGAGAGGGGTGAGAAGGGGAGAGAGGG GAGAGAAGGGGAGGAGAAGGGGGAGAGGGGGGGAGAGGGGGAGAGGTGGG GGAGGAGGGGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGAGGAGGGGAGGAGGGGGGAGGAGGGGGAGTGGAGGGGGGGTGGG GGGGGAGGGGGGAGGGGGAGAGGGAGGGGGGAGGAGGGGGGGGGGAGGAG GGGAGAGGGGGAGGAGGGGGAGAGGGTGGGAGGAGGGGAGAGGGGGGAAG TGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCG AGTGTGAGAGAGAGAGGCGAGTGAGAGAGAGAGCAGGTGAGAGAGAGGGC GAGAGAAAGAGAGGGTGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAG AGGGCGAGAGGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGG GGCGGGTAGGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGAGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGA GAGAGAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGGAGAG AAAGAGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0054 a0054	a0054c0034 a0054c0034	a0054c0034t0001 a0054c0034t0001	a0054c0034t0001g0006 a0054c0034t0001g0006	1	308	0.0033	857	c.371 others(874): Show c.3718+661_3718+662insCCCTCTTTCTCTCCCCTCTTTCTCTCCC TCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCTCTC TCTCTCTTGCCCGCCTCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCT CTCTTGCCCACCCTCTCTCTCCTACCCGCCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCCTCTCGCCCTCTCTCTCTCTCGCCCTCGCC CTCTCTCTCTTGCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCTC TCTCTCTCACTCGCCTCTCTCTCTCACACTCGCCCTCTCTCACCCGCCCT CTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCCTCTCCCCTCCT CCCACCCTCTCCCCCTCCTCCCCCTCTCCCCTCCTCCCCCCCCCCTCCTC CCCCCTCCCTCTCCCCCTCCCCCCTCCCCCCCCACCCCCCCTCCACTCCC CCTCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTCCT CCCCCTCCCCCTCTCCCCCTCCCCTCCTCCCCCACCTCTCCCCCTCTCCC CCCCTCTCCCCCTTCTCCTCCCCTTCTCTCCCCTCTCTCCCCTTCTCACC CCTCTCTCCCCTTCCTCTCCCTCCTCTCCCCCTCTCCCTTCTCTCACCCC TCTCCTCCCCCTCCCCCTCTCCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCACCCCC TTGTCTCCCTCCTCCCCTTCTCTCTCCCCTCTCCTTCTCTCCCTCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCTCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(850): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGATGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGAT GGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGG TGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATG ATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGAT GGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGT GATTCAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	210	0.0048	857	c.438 others(876): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGAT GGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGA TGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATG GTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGAT GGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGA TGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(850): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGAT GGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGG TGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATG ATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGAT GGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGT GATTCAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(67): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03516.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18966.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0020 a0001c0026 a0002c0003 a0003c0005 a0003c0011 a0004c0010 a0009c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0001t0048 a0001c0001t0066 a0001c0001t0069 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0032 a0001c0002t0036 a0001c0002t0038 a0001c0002t0052 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0071 a0001c0004t0025 a0001c0009t0005 a0001c0009t0074 a0001c0020t0005 a0001c0026t0001 a0002c0003t0001 a0002c0003t0009 a0002c0003t0013 a0002c0003t0075 a0003c0005t0001 a0003c0005t0006 a0003c0011t0001 a0004c0010t0026 a0004c0010t0060 a0009c0028t0015	a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 others(67): Show a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0008g0064 a0001c0001t0016g0035 a0001c0001t0023g0112 a0001c0001t0030g0162 a0001c0001t0035g0194 a0001c0001t0048g0151 a0001c0001t0066g0092 a0001c0001t0069g0115 a0001c0001t0088g0090 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0058 a0001c0002t0001g0080 a0001c0002t0001g0116 a0001c0002t0001g0187 a0001c0002t0001g0210 a0001c0002t0002g0091 a0001c0002t0002g0169 a0001c0002t0002g0180 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0120 a0001c0002t0003g0147 a0001c0002t0005g0152 a0001c0002t0008g0083 a0001c0002t0008g0094 a0001c0002t0008g0098 a0001c0002t0015g0118 a0001c0002t0016g0015 a0001c0002t0016g0195 a0001c0002t0018g0085 a0001c0002t0018g0198 a0001c0002t0032g0192 a0001c0002t0036g0157 a0001c0002t0038g0077 a0001c0002t0052g0199 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0064g0182 a0001c0002t0071g0099 a0001c0004t0025g0205 a0001c0009t0005g0200 a0001c0009t0074g0117 a0001c0020t0005g0196 a0001c0026t0001g0160 a0002c0003t0001g0018 a0002c0003t0001g0142 a0002c0003t0009g0078 a0002c0003t0013g0137 a0002c0003t0075g0084 a0003c0005t0001g0171 a0003c0005t0001g0172 a0003c0005t0006g0053 a0003c0011t0001g0185 a0004c0010t0026g0122 a0004c0010t0060g0087 a0009c0028t0015g0209	70	210	0.3333	857	c.438 others(876): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGAT GGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGA TGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATG GTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGAT GGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGA TGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(850): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGAT GGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGG TGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATG ATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGAT GGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGT GATTCAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0123 a0002c0003t0004g0123	1	210	0.0048	857	c.438 others(876): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGAT GGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGA TGGTGATGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATG GTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGAT GGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGA TGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(850): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTTGT ATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTG TGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTG TTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGT AGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02886.hp2 others(2): Show HG01884.hp1 HG02280.hp2 HG02886.hp2 NA19089.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0006c0008	a0001c0001t0002 a0001c0002t0001 a0003c0005t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0003c0005t0001 a0006c0008t0001	a0001c0001t0002g0151 a0001c0002t0001g0070 a0003c0005t0001g0053 others(1): Show a0001c0001t0002g0151 a0001c0002t0001g0070 a0003c0005t0001g0053 a0006c0008t0001g0037	5	394	0.0127	857	c.135 others(874): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTG TGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTG TTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGT GTGGTGTGTGTTGTAGTGTGTGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD11_chr1_918923_949574	934153	A A	AGGCGGCT others(850): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTCCGTTACAGGTGG GCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCAGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0260 a0008c0014t0004g0260	1	434	0.0023	857	c.843 others(874): Show c.843-1597_843-1596insGGGGGGGGGCGGCTCCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCAGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 7053 hits)