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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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
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03688.hp2 HG03669.hp1 HG03688.hp2	a0001 a0001	a0001c0023 a0001c0028 a0001c0023 a0001c0028	a0001c0023t0001 a0001c0028t0004 a0001c0023t0001 a0001c0028t0004	a0001c0023t0001g0014 a0001c0028t0004g0213 a0001c0023t0001g0014 a0001c0028t0004g0213	2	272	0.0074	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	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(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03579.hp1 HG00140.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0042 a0001c0003t0044 a0001c0002t0042 a0001c0003t0044	a0001c0002t0042g0185 a0001c0003t0044g0186 a0001c0002t0042g0185 a0001c0003t0044g0186	2	272	0.0074	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	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(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp1 others(13): Show HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0024 a0001c0025 a0001c0026 a0001c0045	a0001c0001t0012 a0001c0003t0004 a0001c0003t0008 others(12): Show a0001c0001t0012 a0001c0003t0004 a0001c0003t0008 a0001c0003t0015 a0001c0004t0018 a0001c0005t0001 a0001c0005t0006 a0001c0006t0007 a0001c0007t0017 a0001c0007t0023 a0001c0009t0001 a0001c0024t0017 a0001c0025t0008 a0001c0026t0006 a0001c0045t0004	a0001c0001t0012g0242 a0001c0003t0004g0266 a0001c0003t0008g0187 others(13): Show a0001c0001t0012g0242 a0001c0003t0004g0266 a0001c0003t0008g0187 a0001c0003t0015g0188 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0001g0107 a0001c0005t0006g0040 a0001c0006t0007g0103 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0009t0001g0106 a0001c0024t0017g0180 a0001c0025t0008g0203 a0001c0026t0006g0101 a0001c0045t0004g0104	16	272	0.0588	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	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(829): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCAT TCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0268 a0001c0015t0001g0268	1	272	0.0037	836	c.110 others(853): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCA TGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATC CATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(829): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAG GGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAAGGAGGGAGGG AGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAG GGGAGGACAGAGGGAGGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGG AGGGAGGGGAGGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAG GGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGG AGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAG GGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGG AAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAAGTAAGAATGGAG GGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGG AGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGT GGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGG AAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAAT GGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGG AGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGGAG GGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	836	c.415 others(857): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACTTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTC CCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCG TCCTCCCCTCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCCTC CCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCTGTCCTCCCCTCCCTCCCTCCTTCCTCCCCTCCCTCCCTCCTTCCATC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCT TCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTC CCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713038	G G	GCCCCTGA others(829): Show GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0183 a0003c0004t0004g0183	1	418	0.0024	836	c.737 others(851): Show c.737+148_737+149insTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113263139	G G	GCTGATGG others(829): Show GCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCG CTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATAC GTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGAT GGCAGATGTCGGGTCTGCCTCGCTTATACGTGTCTGCCTCGCTTATACGT GCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTG CTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGG CAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACG TGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTT GCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	396	0.0025	836	c.218 others(853): Show c.2185-306_2185-305insGCTGATGGCAGATGTCGGGTCTGCCTCG CTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATAC GTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGAT GGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGAT GTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGAT CTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTC GCTTATACGTGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACG TGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTT GCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATG GCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG TCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTC TGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCG CTTATACGTGCCCTTACTGATGGCAGATGTCGGATCTGCCTCGCTTATAC GTGCCCTT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	324	0.0031	836	c.340 others(853): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	324	0.0031	836	c.340 others(853): Show c.340-1395_340-1394insCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(829): Show AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	324	0.0031	836	c.340 others(853): Show c.340-1395_340-1394insCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGA GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(829): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGG TGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGG AGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTA AAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0037 a0001c0001t0021g0037	1	294	0.0034	836	c.-38 others(847): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGA GGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGG GAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGA GGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAA GGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTA AT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(829): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0011 a0001c0001t0007g0012	2	138	0.0145	836	c.123 others(857): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCC TCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCTCCC others(829): Show TTCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTCC CCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTCT CCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCTC CCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTCC CCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTCT TCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCTC CTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCCT CCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCCC TTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTTT TTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCCC CTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCCT CTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCC CTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTT TTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCC TCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCA CCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp2 HG02559.hp1 others(4): Show HG00733.hp2 HG01071.hp2 HG02559.hp1 HG03139.hp2 NA18979.hp2 NA19043.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0049 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0049 a0001c0002t0001 a0001c0002t0019 a0001c0008t0012	a0001c0001t0001g0022 a0001c0001t0004g0040 a0001c0001t0049g0027 others(4): Show a0001c0001t0001g0022 a0001c0001t0004g0040 a0001c0001t0049g0027 a0001c0002t0001g0125 a0001c0002t0019g0103 a0001c0008t0012g0081 a0001c0008t0012g0094	7	138	0.0507	836	c.123 others(857): Show c.1237-15755_1237-15754insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT CTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCT CCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTC CCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCT CTCCTTTCCTCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IFFO2_chr1_18899280_18961676	18925804	T T	TTGGTTGG others(829): Show TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	376	0.0027	836	c.666 others(853): Show c.666-4684_666-4683insTCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(829): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGAATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	376	0.0027	836	c.666 others(853): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATTCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(829): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	376	0.0027	836	c.666 others(853): Show c.666-4737_666-4736insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925861	A A	ATGGATGG others(829): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGTTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0169 a0002c0005t0023g0169	1	376	0.0027	836	c.666 others(853): Show c.666-4741_666-4740insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAAC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(829): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTG GAATATATATATGGAATATATATATATGTGGAATATATATATGGAATATA TATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATAT ATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAATATATACATGGAATATATAC ATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATAT ATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGAATATATATACGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	323	0.0031	836	c.-27 others(847): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGTGGAATATATATATGGA ATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATA TATATATGGAATATATATATATGTGGAATATATATATGGAATATATATAT ATGTGGAATATATATATGGAATATATATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATATATATGGAA TATATACATGGAATATATATATATAGAATATATACATGGAATATATATAT GGAATATATACATGGAATATATATATATGGAATATATACATGGAATATAT ACATGGAATATATACATGGAACATATACATGGAATATATACATGGAACAT ATACATGGAATATATATATATGGAACATATACGGAATATATATATGGAAT ATATATACGGAATATATATATATGGAATATATATACGGAATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATATGGAATATATATACGGAATATATATATGGAATATATATACGGAATA TG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599469	T T	TGGGGGGG others(829): Show TGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCC CGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCCA CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTC CGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0042 a0009c0011t0003g0042	1	334	0.0030	836	c.369 others(853): Show c.369+2900_369+2901insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA CCCCCCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(829): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCC TCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTC CCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTC CTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	252	0.0040	836	c.10- others(853): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC CTCCTCCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(829): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCTCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCC TCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTC CCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTC CTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	252	0.0040	836	c.10- others(853): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCTCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCC TCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCC TCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(829): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0170 a0001c0001t0104g0170	1	276	0.0036	836	c.80 others(845): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCA GTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACA GAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGAT GTCACAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACA CATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(829): Show TAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCACTCCTAT AATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTCAGGAGA TCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATTC AAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTACTTGGG AGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTACAGTGA GCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAGAATCCG TCTCAATAATAATAATAATAATAATAATAATAATGATAGGCCGGGCGCGG TGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGGCGGATC ACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAAACCCCG TCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTA ATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACCCGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGAGCCAAG ATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGCCAGGCAT GGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTGCACCATT GCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(2): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG02735.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	5	408	0.0123	836	c.-30 others(847): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(829): Show TAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCAC TCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTC AGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTA CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTA CAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAG AATCCGTCTCAATAATAATAATAATAATAATAATGATAGGCCGGGCGCGG TGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGGCGGATC ACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAAACCCCG TCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTA ATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACCCGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGAGCCAAG ATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGCCAGGCAT GGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTGCACCATT GCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	836	c.-30 others(847): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGG ATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCA CTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCC AAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAA TTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCT CCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGGATTATA GGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTA TT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284535	T T	TAATAATA others(829): Show TAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCACTCCTAT AATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTCAGGAGA TCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATTC AAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTACTTGGG AGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTACAGTGA GCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAGAATCCG TCTCAATAATAATAATAATAATAATAATAATAATGATAGGCCGGGCGCGG TGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGGCGGATC ACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAAACCCCG TCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTA ATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACCCGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGAGCCAAG ATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGCCAGGCAT GGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTGCACCATT GCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	408	0.0025	836	c.-30 others(847): Show c.-3052_-3051insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2914		chr19	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(829): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	284	0.0035	836	c.126 others(853): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507062	A A	AGGGGTAG others(829): Show AGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	260	0.0039	836	c.624 others(853): Show c.624+8955_624+8956insCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGA TTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(829): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAGTCAC ATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATAT AGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAG TCATATATGTATATAAAACTATATACAGTCATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTAT GTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAGTTAT GTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	836	c.-30 others(847): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTA TATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATG TATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTA AAACTATATAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTA TG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18971.hp1 HG00621.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	398	0.0050	836	c.-42 others(847): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTT CTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(829): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACAC AGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAG CAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02738.hp2 HG01981.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	398	0.0050	836	c.-42 others(847): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(829): Show CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCGCTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCACACTTACACCCACACTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	290	0.0035	836	c.129 others(855): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCC ACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACGCTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACGCTTACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCT ACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(829): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGG TAATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTG ATGGTGGAGGGTGTGGTGGTAGTGAAGGTGGTGGTGGTGGTGATGGCAGA GGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAG AGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAA GTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18950.hp2 NA18961.hp1 others(4): Show NA18948.hp1 NA18950.hp2 NA18961.hp1 NA19063.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(4): Show a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0244 a0001c0001t0002g0245	7	274	0.0256	836	c.480 others(855): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCACCTTCACTACCACCACA CCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCATCAC CTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTACCA CCACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACC ATCACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCAC TACCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCA CCACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACC ACCATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCAC CATCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACC ACCATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCAC CACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCA CCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACC TCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCC CACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACC ACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MICAL3_chr22_17782649_18029561	17876928	G G	GGGAAGTT others(829): Show GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGGTTAGGGTTAGGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGGTTAGGGTTAGGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGCTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	274	0.0037	836	c.224 others(855): Show c.2242-4906_2242-4905insATAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCATAACCTCC ATAACCTCCCTCACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCCTAACCCTAACCCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCCTAACCCTAACCCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTC CATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(829): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATTTATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTGAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATTATATATTTATATATTATATATAATATATTTATATT GAATATTATATATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	170	0.0059	836	c.166 others(855): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTTATATTAAATATT ATATATTTATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATATATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATATAATATATTTATATTGAATATTATATATTTATATATTATATAAAT ATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOC4L_chr12_132139457_132157468	132149300	C C	CGCCGCCT others(829): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	294	0.0034	836	c.901 others(851): Show c.901+413_901+414insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149314	C C	CACCACAC others(829): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	294	0.0034	836	c.901 others(851): Show c.901+448_901+449insGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149617	G G	GCTCCTAC others(829): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	294	0.0034	836	c.901 others(851): Show c.901+725_901+726insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(829): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATAT AGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATA GTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTA AACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCAT GTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAA CTAGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0229 a0001c0005t0001g0229	1	244	0.0041	836	c.342 others(855): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACT AGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTT TAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAGTTTAAACT ATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTA TATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATA TAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(829): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATGTC TATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0112 a0003c0003t0002g0112	1	346	0.0029	836	c.176 others(855): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATAT CTCTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGA TATCTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCGATATCTAATCTATAGATATCTCTAGACATCATAGATATC TAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCT CTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATA TCTAATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACAT CTCTAGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTA ATCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC CAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTCTA GATATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	398381	C C	CTACCCCC others(829): Show CTACCCCCGCACACACCTGCGTCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACAC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTA CACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	216	0.0046	836	c.106 others(853): Show c.1069-583_1069-582insATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398381	C C	CTACCCCC others(829): Show CTACCCCCGCACACACCTGCGTCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACAC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTA CACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02273.hp1 NA18971.hp1 others(1): Show HG01934.hp2 HG02273.hp1 NA18971.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0115 others(1): Show a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0115 a0001c0003t0001g0116	4	216	0.0185	836	c.106 others(853): Show c.1069-583_1069-582insATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398381	C C	CTACCCCC others(829): Show CTACCCCCGCACACACCTGCGTCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACAC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTA CACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	216	0.0046	836	c.106 others(853): Show c.1069-583_1069-582insATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(829): Show TCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCTCCCGGGAGACCCGAG GCCGTCCAGAGCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCTTCCCGG GAGACCCGAGGCCGTCCAGAGCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGG GAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGT CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCG TCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAG ACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	295	0.0034	836	c.126 others(855): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCTTCCCGGGAGACCCG AGGCCGTCCAGAGCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCTTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGG CCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGC CCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGG CCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492486	C C	CCCCGGGA others(829): Show CCCCGGGAGACCCGAGGCCGCCCAGGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTC CAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCC CTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGG CCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCA GGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0034 a0001c0001t0036g0034	1	295	0.0034	836	c.126 others(855): Show c.1265+3486_1265+3487insCCCGGGAGACCCGAGGCCGCCCAGGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGC CGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGG GAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAG GGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCC GAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTT CCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGT CCAGAGCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(829): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATATGTAATACATTATA CATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATA TGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0045 a0001c0001t0071g0045	1	220	0.0046	836	c.24+ others(853): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATT ATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAA GTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAAT ACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388407	T T	TTATAGCT others(829): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	304	0.0033	836	c.66+ others(851): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(829): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03654.hp2 HG02015.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0057 a0001c0001t0001g0142	2	304	0.0066	836	c.66+ others(851): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(829): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTACAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTACAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	304	0.0033	836	c.66+ others(851): Show c.66+3430_66+3431insCAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTACAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(829): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0229 a0001c0002t0003g0229	1	384	0.0026	836	c.157 others(855): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGT GGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(829): Show ATATCATATTTTATATTATAATATATAACATATATTATATTATAATATAT AACATATATTATATATTATAATATATAACATATATTATATATTATAATAT ATAACATATATTATATATTATAATATATAACATATATTATATATTATAAT ATATAACATATATTATATATTATAATATATAATATATATTATATTTTATA ATATATAATATATATTATATTTTATAATATATAATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATTATATATTATATTTTATAATATATAATATATTTTATAATATATAATAT ATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAATAT ATATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTT ATAATATATATTATATTTTATAATATATATTATATTTTATAATATATATT ATATTTTATAATATATATTATATTTTATAATATATATTATATTTTATAAT ATATATTATATTTTATAATATATATTATATTTTATAATATATATTATATT TTATAATATATATTATATTTTATAATATATATTATATTTTATAATATATA TTATATTTTATAATATATATTATATTTTATAATATATATTATATTTTATA ATATATATTATATTTTATAATATATATTATATTTTATAATATATATTATA TTTTATAATATATATTATATATTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	340	0.0029	836	c.17 others(855): Show c.174+9791_*174+9792insATATTATATATTATAATATATAATAT ATATTATAAAATATAATATATATTATAAAATATAATATATATTATAAAAT ATAATATATATTATAAAATATAATATATATTATAAAATATAATATATATT ATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATAAT ATATATTATAAAATATAATATATATTATAAAATATAATATATATTATAAA ATATAATATATATTATAAAATATAATATATATTATAAAATATAATATATA TTATAAAATATAATATATATTATAAAATATAATATATATTATAAAATATA ATATATATTATAAAATATAATATATATTATAAAATATAATATATATTATA AAATATAATATATATTATAAAATATAATATATATTATAAAATATAATATA TATTATAAAATATATTATATATTATAAAATATATTATATATTATAAAATA TAATATATAATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAATATATAAT ATATGTTATATATTATAATATATAATATATGTTATATATTATAATATATA ATATATGTTATATATTATAATATATAATATATGTTATATATTATAATATA TAATATATGTTATATATTATAATATAATATATGTTATATATTATAATATA AAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar

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Search Results (Total: 7053 hits)