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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
FEZF2_chr3_62364681_62378550	62372545	G G	GCCGCCGC others(2): Show GCCGCCGCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG02145.hp1 HG02486.hp1 others(1): Show HG01891.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	4	420	0.0095	9	c.315 others(16): Show c.315_323dupAGGCGGCGG	p.Gly others(13): Show p.Gly106_Gly108dup	FEZF2	ENSG00000153266.13	transcript	ENST00000283268.8	protein_coding	2/5	653/2112	323/1380	108/459		chr3	TogoVar
FGD5_chr3_14813962_14939571	14819359	G G	GGAAGAGG others(11): Show GGAAGAGGAAGAGGAGCGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0228 a0008c0015t0001g0228	1	342	0.0029	18	c.296 others(25): Show c.296_313dupAAGAGGAGCGTGAAGAGG	p.Glu others(12): Show p.Glu99_Glu104dup	FGD5	ENSG00000154783.12	transcript	ENST00000285046.10	protein_coding	1/20	424/5903	314/4389	105/1462	INFO_REALIGN_3_PRIME	chr3	TogoVar
FGF11_chr17_7434512_7449937	7441765	T T	TCCACCTG others(32): Show TCCACCTGCAGGTCCACTTCGAACCTGCTCCCTCTCTGGG	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0026 a0002c0007t0001g0026	1	350	0.0029	39	c.305 others(48): Show c.305-1_305insGTCCACTTCGAACCTGCTCCCTCTCTGGGCCACCTG CAG	p.Thr others(51): Show p.Thr102delinsSerProLeuArgThrCysSerLeuSerGlyProPro AlaAla	FGF11	ENSG00000161958.11	transcript	ENST00000293829.9	protein_coding	3/5	414/2578	305/678	102/225	INFO_REALIGN_3_PRIME	chr17	TogoVar
FGF5_chr4_80261664_80296017	80286532	G G	GAGC GAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00642.hp1 HG00733.hp2 others(2): Show HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01346.hp1 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0012 a0003c0003t0004 a0003c0003t0012	a0003c0003t0004g0001 a0003c0003t0004g0133 a0003c0003t0012g0001 a0003c0003t0004g0001 a0003c0003t0004g0133 a0003c0003t0012g0001	5	456	0.0110	3	c.671 others(10): Show c.671_673dupAGC	p.Gln others(6): Show p.Gln224dup	FGF5	ENSG00000138675.17	transcript	ENST00000312465.12	protein_coding	3/3	835/5313	674/807	225/268	INFO_REALIGN_3_PRIME	chr4	TogoVar
FHDC1_chr4_152931323_152984671	152943168	T T	TCCTCCTC others(5): Show TCCTCCTCCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03490.hp1 HG03490.hp1	a0016 a0016	a0016c0054 a0016c0054	a0016c0054t0001 a0016c0054t0001	a0016c0054t0001g0101 a0016c0054t0001g0101	1	438	0.0023	12	c.117 others(19): Show c.117_128dupTCCACCCCCTCC	p.Pro others(11): Show p.Pro40_Pro43dup	FHDC1	ENSG00000137460.10	transcript	ENST00000511601.6	protein_coding	2/12	346/6597	129/3432	43/1143	INFO_REALIGN_3_PRIME	chr4	TogoVar
FLG2_chr1_152343735_152365006	152350994	G G	GTGCACTT others(2255): Show GTGCACTTCACTGTCACTGGACTCACTGTGGCCAGATCCCCTTCTTCCAG TTGTCCTGGACCCTCTCTGTGTGGATTGTCCATAACCATAGTGGGCATGT CTAGTGGTATCTCCTGTCTGTCCATGAGTAGTTCCCTGTCTCCCATGACC TGAGGATCCTGACTGTCCATGTCGAGATCCGGCTTGGCTGTGAGTGTGTC CTGAATGTGTGGGTGAGGCCTCTGAGTGCACTTCACTATCACTGGACTCA CTGTGACTAGATCTTTGTCTTCCAGTTGTCCTGGAACCTGTCTGTGTGGA CTGTCCATGACCAGACTGGCCATGTCTAGTGGTATCTCCTGTCTGTCCAT GTATAGTTCCCTGTCTCCCGTGAATGGCAGATCCTGACTCTCCATGTTGA GATCTGGCTTGGCCATAAGTGTGTCCTGAATGTGTGTGTGAGACCCCTGA GTGCACTTCACTGTCACTGGACTCACTGTGGCCAGATCCCCTTCTTCCAG CTGTCCTTGACCCTCTCTGTGTGGACTGTCCATGACCAGAGTGAGCATGT CTAGTGGTATCTCCTGTCTGTCCATGAGTAGTTCCGTGTCTCTCATGAAC TGAGGATCCTGACTCTCCATGTTGAGATCCGGCTTGGCCATGAGCGTGTC CTGAATGTGTGTGTGAGACCCCTGAGTGCCCTTCACTGTCACTGTACTCA CTGTGGCCAGATGCCCTTCTTCCAGTTGTCCTGGACCCTCTCTGTGTGGA CTGTCCATGACCAGAGTGGCCATGTCTAGTGGTATCTGCTGTTTGTCCAT GAGTAGTTCCGTGTCTCTCATGAACTGAGGATCCTGACTCTGGATAGTGA GATCCAGCTTGACCGTGAGTGTGTCCTGAATGTGTGTGTGAGACCCCTGA GGGCCCTTCACTGTCACTGTACTCACTGTGGCCAGATCCCCTTCTTCCAG TTGTCCTGGACCCTGTCTGTATGGTTTGTCCATGACTAGGGTGGCCATGT TCAGTGGTATCTCCTGTCTGTCCATGAGTAGTTTGGTGTCTCTTGTGAAC TGTGGATTCTGACTCTCCATGTTGAGACCTGGCTTGGCTGTGTGTGTGTC CTGAATGTGTATGTGAGCCCCCTGAGTGCACTTCACTGTCACTGGACTCA CTGTGGCCAGATCTCCTTCTTCCAGTTGTACTGGATCCTGACTGTGTGGA CTGTCCATGACCAGATTGAGAATGTCCACTGGTATCTCCTGTCTGTCCAT GAGTAGTTCCATGTCTCTCGTCAACTATGGATTCTGACTCTCCATGTTGA GATCCAGCCTGGCCGTGAGTGTGTCCTCGTGAGTGTGGTCTTTGTGAGAA CCCTGAGTGCCCTTCACTGTCACTGTACTCACTGTGGCCAGATGACCTTC TTCCAGTGGTCCTGGACCCTGTCTGTGTGGACTGTCCATGACCAGAGTGG GCATGTCTGGTGGTATCGCCTGTCTGTCCATGTATAGTTCCATGTCTCTC ATGAACTATGGATTCTGACTCTCCATGTTGAGATCTGGCTTGGCCATGAG TGTGTCCTGAATGTGTATGTGAGACTCCTGAGTACCCTTCACTGTCACTG TACTCACTGTGGCCAGATCCCCTTCTTCCAGTAGTCCTGGACCCTGTCTG TGTGGTTAATCCATGATGATAGTGGGCATGTCTAGTGGTATCTCCTGTCT GTCCATGAGTAGTTCCATGTCTCTCAGGAACTATGGATTCTGACTGTCCA TGTTGAGATCCAGCTTGACCATGAGTGTGTCCTGTATGTGTGTGTGAGAC CCCTGAGTGCACTTCACTGTCACTGGACTCACTGTGGCTAGATCTCTGTC TTCCAGTTGTCCTGGACCCTCTCTGTGTGGACTGTCCATGACCAGAGTGG GAATGTCCAGTGGTATCTCCTATCTGTCCATGAGTAGTTCCGTGTCTCTC ATGAACTGTGAATTCTGGCTCTTCATGTTGAGATCCGGCTTGGCCGTAAG TGTGTTCTCGTGAGTGTGGTCTGTGTGAGCCCCCTGAGTGCACTTCACTG TCAGTGGACTCACTGTGGCTAGTTCTCTGTCTTCCAGTTGTCCTGGACCC TGTCTGTGTGGTTTGTTCATGACCAGAGTAGGAATGTCTAGTGGTATCTC CTGTCTGTCCATGAGTAATTCTGTGTCTGTCATGAATTATGGATTCTGAC TCTCCATGTTGAGATCCACTTTGGCCGTGAGTGTGTCCTGAATGTGTGTG CGAGCCCCCTGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18999.hp2 NA19060.hp2 NA18999.hp2 NA19060.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0002 a0014c0025t0002	a0014c0025t0002g0032 a0014c0025t0002g0032	2	422	0.0047	2262	c.679 others(2271): Show c.6791_6792insTTCAGGGGGCTCGCACACACATTCAGGACACACTCA CGGCCAAAGTGGATCTCAACATGGAGAGTCAGAATCCATAATTCATGACA GACACAGAATTACTCATGGACAGACAGGAGATACCACTAGACATTCCTAC TCTGGTCATGAACAAACCACACAGACAGGGTCCAGGACAACTGGAAGACA GAGAACTAGCCACAGTGAGTCCACTGACAGTGAAGTGCACTCAGGGGGCT CACACAGACCACACTCACGAGAACACACTTACGGCCAAGCCGGATCTCAA CATGAAGAGCCAGAATTCACAGTTCATGAGAGACACGGAACTACTCATGG ACAGATAGGAGATACCACTGGACATTCCCACTCTGGTCATGGACAGTCCA CACAGAGAGGGTCCAGGACAACTGGAAGACAGAGATCTAGCCACAGTGAG TCCAGTGACAGTGAAGTGCACTCAGGGGTCTCACACACACATACAGGACA CACTCATGGTCAAGCTGGATCTCAACATGGACAGTCAGAATCCATAGTTC CTGAGAGACATGGAACTACTCATGGACAGACAGGAGATACCACTAGACAT GCCCACTATCATCATGGATTAACCACACAGACAGGGTCCAGGACTACTGG AAGAAGGGGATCTGGCCACAGTGAGTACAGTGACAGTGAAGGGTACTCAG GAGTCTCACATACACATTCAGGACACACTCATGGCCAAGCCAGATCTCAA CATGGAGAGTCAGAATCCATAGTTCATGAGAGACATGGAACTATACATGG ACAGACAGGCGATACCACCAGACATGCCCACTCTGGTCATGGACAGTCCA CACAGACAGGGTCCAGGACCACTGGAAGAAGGTCATCTGGCCACAGTGAG TACAGTGACAGTGAAGGGCACTCAGGGTTCTCACAAAGACCACACTCACG AGGACACACTCACGGCCAGGCTGGATCTCAACATGGAGAGTCAGAATCCA TAGTTGACGAGAGACATGGAACTACTCATGGACAGACAGGAGATACCAGT GGACATTCTCAATCTGGTCATGGACAGTCCACACAGTCAGGATCCAGTAC AACTGGAAGAAGGAGATCTGGCCACAGTGAGTCCAGTGACAGTGAAGTGC ACTCAGGGGGCTCACATACACATTCAGGACACACACACAGCCAAGCCAGG TCTCAACATGGAGAGTCAGAATCCACAGTTCACAAGAGACACCAAACTAC TCATGGACAGACAGGAGATACCACTGAACATGGCCACCCTAGTCATGGAC AAACCATACAGACAGGGTCCAGGACAACTGGAAGAAGGGGATCTGGCCAC AGTGAGTACAGTGACAGTGAAGGGCCCTCAGGGGTCTCACACACACATTC AGGACACACTCACGGTCAAGCTGGATCTCACTATCCAGAGTCAGGATCCT CAGTTCATGAGAGACACGGAACTACTCATGGACAAACAGCAGATACCACT AGACATGGCCACTCTGGTCATGGACAGTCCACACAGAGAGGGTCCAGGAC AACTGGAAGAAGGGCATCTGGCCACAGTGAGTACAGTGACAGTGAAGGGC ACTCAGGGGTCTCACACACACATTCAGGACACGCTCATGGCCAAGCCGGA TCTCAACATGGAGAGTCAGGATCCTCAGTTCATGAGAGACACGGAACTAC TCATGGACAGACAGGAGATACCACTAGACATGCTCACTCTGGTCATGGAC AGTCCACACAGAGAGGGTCAAGGACAGCTGGAAGAAGGGGATCTGGCCAC AGTGAGTCCAGTGACAGTGAAGTGCACTCAGGGGTCTCACACACACATTC AGGACACACTTATGGCCAAGCCAGATCTCAACATGGAGAGTCAGGATCTG CCATTCACGGGAGACAGGGAACTATACATGGACAGACAGGAGATACCACT AGACATGGCCAGTCTGGTCATGGACAGTCCACACAGACAGGTTCCAGGAC AACTGGAAGACAAAGATCTAGTCACAGTGAGTCCAGTGATAGTGAAGTGC ACTCAGAGGCCTCACCCACACATTCAGGACACACTCACAGCCAAGCCGGA TCTCGACATGGACAGTCAGGATCCTCAGGTCATGGGAGACAGGGAACTAC TCATGGACAGACAGGAGATACCACTAGACATGCCCACTATGGTTATGGAC AATCCACACAGAGAGGGTCCAGGACAACTGGAAGAAGGGGATCTGGCCAC AGTGAGTCCAGTGACAGTGAAGTGCA	p.His others(2277): Show p.His2264_Ser2265insSerGlyGlySerHisThrHisSerGlyHis ThrHisGlyGlnSerGlySerGlnHisGlyGluSerGluSerIleIleHi sAspArgHisArgIleThrHisGlyGlnThrGlyAspThrThrArgHisS erTyrSerGlyHisGluGlnThrThrGlnThrGlySerArgThrThrGly ArgGlnArgThrSerHisSerGluSerThrAspSerGluValHisSerGl yGlySerHisArgProHisSerArgGluHisThrTyrGlyGlnAlaGlyS erGlnHisGluGluProGluPheThrValHisGluArgHisGlyThrThr HisGlyGlnIleGlyAspThrThrGlyHisSerHisSerGlyHisGlyGl nSerThrGlnArgGlySerArgThrThrGlyArgGlnArgSerSerHisS erGluSerSerAspSerGluValHisSerGlyValSerHisThrHisThr GlyHisThrHisGlyGlnAlaGlySerGlnHisGlyGlnSerGluSerIl eValProGluArgHisGlyThrThrHisGlyGlnThrGlyAspThrThrA rgHisAlaHisTyrHisHisGlyLeuThrThrGlnThrGlySerArgThr ThrGlyArgArgGlySerGlyHisSerGluTyrSerAspSerGluGlyTy rSerGlyValSerHisThrHisSerGlyHisThrHisGlyGlnAlaArgS erGlnHisGlyGluSerGluSerIleValHisGluArgHisGlyThrIle HisGlyGlnThrGlyAspThrThrArgHisAlaHisSerGlyHisGlyGl nSerThrGlnThrGlySerArgThrThrGlyArgArgSerSerGlyHisS erGluTyrSerAspSerGluGlyHisSerGlyPheSerGlnArgProHis SerArgGlyHisThrHisGlyGlnAlaGlySerGlnHisGlyGluSerGl uSerIleValAspGluArgHisGlyThrThrHisGlyGlnThrGlyAspT hrSerGlyHisSerGlnSerGlyHisGlyGlnSerThrGlnSerGlySer SerThrThrGlyArgArgArgSerGlyHisSerGluSerSerAspSerGl uValHisSerGlyGlySerHisThrHisSerGlyHisThrHisSerGlnA laArgSerGlnHisGlyGluSerGluSerThrValHisLysArgHisGln ThrThrHisGlyGlnThrGlyAspThrThrGluHisGlyHisProSerHi sGlyGlnThrIleGlnThrGlySerArgThrThrGlyArgArgGlySerG lyHisSerGluTyrSerAspSerGluGlyProSerGlyValSerHisThr HisSerGlyHisThrHisGlyGlnAlaGlySerHisTyrProGluSerGl ySerSerValHisGluArgHisGlyThrThrHisGlyGlnThrAlaAspT hrThrArgHisGlyHisSerGlyHisGlyGlnSerThrGlnArgGlySer ArgThrThrGlyArgArgAlaSerGlyHisSerGluTyrSerAspSerGl uGlyHisSerGlyValSerHisThrHisSerGlyHisAlaHisGlyGlnA laGlySerGlnHisGlyGluSerGlySerSerValHisGluArgHisGly ThrThrHisGlyGlnThrGlyAspThrThrArgHisAlaHisSerGlyHi sGlyGlnSerThrGlnArgGlySerArgThrAlaGlyArgArgGlySerG lyHisSerGluSerSerAspSerGluValHisSerGlyValSerHisThr HisSerGlyHisThrTyrGlyGlnAlaArgSerGlnHisGlyGluSerGl ySerAlaIleHisGlyArgGlnGlyThrIleHisGlyGlnThrGlyAspT hrThrArgHisGlyGlnSerGlyHisGlyGlnSerThrGlnThrGlySer ArgThrThrGlyArgGlnArgSerSerHisSerGluSerSerAspSerGl uValHisSerGluAlaSerProThrHisSerGlyHisThrHisSerGlnA laGlySerArgHisGlyGlnSerGlySerSerGlyHisGlyArgGlnGly ThrThrHisGlyGlnThrGlyAspThrThrArgHisAlaHisTyrGlyTy rGlyGlnSerThrGlnArgGlySerArgThrThrGlyArgArgGlySerG lyHisSerGluSerSerAspSerGluValHis	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	6864/9124	6791/7176	2264/2391		chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCA GAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGA GCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02055.hp1	a0095 a0095	a0095c0104 a0095c0104	a0095c0104t0001 a0095c0104t0001	a0095c0104t0001g0192 a0095c0104t0001g0192	1	426	0.0024	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACAGCTCCAGGCACTCAGTGTCACGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCGTGGATCTGTTCAGGAGCAGTCAAGGCACGGCTCCAGACACCCCA GGTCCCATCACGAAGACAGAGCCGGTCACGGGCACTCTGCAGACCGCTCC AGACAATCAGGCACTCGTCACGCAGAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspSerSerArgHisSerValSerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisArgGlySerValGlnGluGlnSerArgHisGlySerAr gHisProArgSerHisHisGluAspArgAlaGlyHisGlyHisSerAlaA spArgSerArgGlnSerGlyThrArgHisAlaGluThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18953.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18979.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0009 others(26): Show a0002 a0007 a0009 a0038 a0040 a0041 a0043 a0044 a0046 a0054 a0059 a0060 a0061 a0076 a0078 a0079 a0081 a0082 a0083 a0084 a0086 a0087 a0091 a0092 a0093 a0094 a0100 a0101 a0102	a0002c0002 a0002c0007 a0002c0020 others(37): Show a0002c0002 a0002c0007 a0002c0020 a0002c0048 a0002c0077 a0002c0083 a0002c0084 a0002c0085 a0002c0101 a0007c0008 a0007c0080 a0009c0022 a0009c0036 a0009c0043 a0038c0042 a0040c0044 a0041c0045 a0043c0049 a0044c0041 a0046c0051 a0054c0061 a0059c0069 a0060c0071 a0061c0070 a0076c0095 a0078c0117 a0079c0072 a0081c0073 a0082c0086 a0083c0100 a0084c0082 a0086c0111 a0087c0102 a0091c0105 a0092c0106 a0093c0076 a0094c0075 a0100c0116 a0101c0099 a0102c0098	a0002c0002t0001 a0002c0007t0001 a0002c0020t0001 others(37): Show a0002c0002t0001 a0002c0007t0001 a0002c0020t0001 a0002c0048t0001 a0002c0077t0001 a0002c0083t0001 a0002c0084t0001 a0002c0085t0001 a0002c0101t0001 a0007c0008t0001 a0007c0080t0001 a0009c0022t0001 a0009c0036t0001 a0009c0043t0001 a0038c0042t0001 a0040c0044t0001 a0041c0045t0001 a0043c0049t0001 a0044c0041t0001 a0046c0051t0001 a0054c0061t0001 a0059c0069t0001 a0060c0071t0001 a0061c0070t0001 a0076c0095t0001 a0078c0117t0001 a0079c0072t0001 a0081c0073t0001 a0082c0086t0001 a0083c0100t0001 a0084c0082t0001 a0086c0111t0001 a0087c0102t0001 a0091c0105t0001 a0092c0106t0001 a0093c0076t0001 a0094c0075t0001 a0100c0116t0001 a0101c0099t0001 a0102c0098t0004	a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0049 others(51): Show a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0049 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0168 a0002c0007t0001g0006 a0002c0007t0001g0157 a0002c0007t0001g0164 a0002c0020t0001g0028 a0002c0048t0001g0057 a0002c0077t0001g0208 a0002c0083t0001g0219 a0002c0084t0001g0166 a0002c0085t0001g0079 a0002c0101t0001g0175 a0007c0008t0001g0008 a0007c0008t0001g0027 a0007c0008t0001g0162 a0007c0080t0001g0165 a0009c0022t0001g0030 a0009c0036t0001g0050 a0009c0043t0001g0056 a0038c0042t0001g0055 a0040c0044t0001g0048 a0041c0045t0001g0169 a0041c0045t0001g0194 a0043c0049t0001g0158 a0043c0049t0001g0202 a0044c0041t0001g0054 a0046c0051t0001g0060 a0054c0061t0001g0243 a0054c0061t0001g0245 a0059c0069t0001g0211 a0060c0071t0001g0232 a0061c0070t0001g0231 a0076c0095t0001g0187 a0078c0117t0001g0205 a0079c0072t0001g0209 a0081c0073t0001g0210 a0082c0086t0001g0144 a0083c0100t0001g0190 a0084c0082t0001g0171 a0086c0111t0001g0200 a0087c0102t0001g0213 a0091c0105t0001g0193 a0092c0106t0001g0212 a0093c0076t0001g0178 a0094c0075t0001g0177 a0100c0116t0001g0203 a0101c0099t0001g0161 a0102c0098t0004g0172	93	426	0.2183	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(1937): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTGTCTCCTGCACTTGATCTTGCCTGTTCA TGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCC TGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTT GATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGAT CCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGA ATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGC TTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAG ATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGA GCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGG ATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGG CTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTG GTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGT CCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCA TGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGA GGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAAT GTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGC TGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTC TTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGT GTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAG TGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG02895.hp2 HG02897.hp1 HG00099.hp2 HG02895.hp2 HG02897.hp1	a0024 a0024	a0024c0046 a0024c0078 a0024c0046 a0024c0078	a0024c0046t0001 a0024c0078t0001 a0024c0046t0001 a0024c0078t0001	a0024c0046t0001g0045 a0024c0078t0001g0179 a0024c0046t0001g0045 a0024c0078t0001g0179	3	426	0.0070	1944	c.892 others(1953): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGACAGACATGGATCCC ACCACCAGCAGTCAGCAGACAGCTCCAGACACTCAGGCATTGGGCACGGA CAAGCTTCATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAG TCAGGCCAGTGACAATGAGGGACATTCAGAAGACTCAGACACACAGTCAG TGTCAGCCCACGGACAGGCTGGGTCCCATCAGCAGAGCCACCAAGAGTCC GCACGTGGCCGGTCAGGGGAAACGTCTGGACATTCAGGATCTTTCCTCTA CCAGGTGAGCACTCATGAACAGTCTGAGTCCTCCCATGGATGGACGGGGC CCAGCACTAGAGGAAGACAAGGATCCCGCCATGAGCAGGCACAAGACAGC TCCAGGCACTCAGCATCCCAAGACGGTCAGGACACCATTCGTGGACACCC GGGGTCAAGCAGAGGAGGAAGGCAGGGGTACCACCACGAGCATTCGGTAG ATAGCTCTGGACACTCAGGGTCCCATCACAGCCACACCACATCCCAGGGA AGGTCTGATGCCTCCCGTGGGCAGTCAGGATCCAGAAGTGCAAGCAGAAC AACACGTAATGAGGAACAATCAGGAGACGGCTCCAGGCACTCAGGGTCGC GTCACCATGAAGCTTCCACTCATGCCGACATCTCTAGACACTCACAGGCA GTCCAGGGACAATCAGAGGGGTCCAGGAGAAGCAGGCGCCAGGGATCCAG TGTGAGCCAGGACAGTGACAGTGAGGGACATTCAGAAGACTCTGAGAGGT GGTCTGGGTCTGCTTCCAGAAACCATCATGGATCTGCTCAGGAGCAGCTA AGAGATGGCTCCAGACACCCCAGGTCCCATCAAGAAGACAGAGCTGGTCA TGGGCACTCTGCAGACAGCTCCAGACAATCAGGCACTCGTCACACACAGA CTTCCTCTGGTGGACAGGCTGCATCATCCCATGAACAGGCAAGATCAAGT GCAGGAGA	p.Gly others(1959): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGlyAspArgHi sGlySerHisHisGlnGlnSerAlaAspSerSerArgHisSerGlyIleG lyHisGlyGlnAlaSerSerAlaValArgAspSerGlyHisArgGlyTyr SerGlySerGlnAlaSerAspAsnGluGlyHisSerGluAspSerAspTh rGlnSerValSerAlaHisGlyGlnAlaGlySerHisGlnGlnSerHisG lnGluSerAlaArgGlyArgSerGlyGluThrSerGlyHisSerGlySer PheLeuTyrGlnValSerThrHisGluGlnSerGluSerSerHisGlyTr pThrGlyProSerThrArgGlyArgGlnGlySerArgHisGluGlnAlaG lnAspSerSerArgHisSerAlaSerGlnAspGlyGlnAspThrIleArg GlyHisProGlySerSerArgGlyGlyArgGlnGlyTyrHisHisGluHi sSerValAspSerSerGlyHisSerGlySerHisHisSerHisThrThrS erGlnGlyArgSerAspAlaSerArgGlyGlnSerGlySerArgSerAla SerArgThrThrArgAsnGluGluGlnSerGlyAspGlySerArgHisSe rGlySerArgHisHisGluAlaSerThrHisAlaAspIleSerArgHisS erGlnAlaValGlnGlyGlnSerGluGlySerArgArgSerArgArgGln GlySerSerValSerGlnAspSerAspSerGluGlyHisSerGluAspSe rGluArgTrpSerGlySerAlaSerArgAsnHisHisGlySerAlaGlnG luGlnLeuArgAspGlySerArgHisProArgSerHisGlnGluAspArg AlaGlyHisGlyHisSerAlaAspSerSerArgGlnSerGlyThrArgHi sThrGlnThrSerSerGlyGlyGlnAlaAlaSerSerHisGluGlnAlaA rgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCGTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01192.hp2 HG01081.hp2 HG01192.hp2	a0037 a0037	a0037c0050 a0037c0050	a0037c0050t0001 a0037c0050t0001	a0037c0050t0001g0059 a0037c0050t0001g0059	2	426	0.0047	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCACGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGTGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerArgSerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305958	T T	TTCTCCTG others(965): Show TTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCAC CAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCA GAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGA GCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAG ACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCC TGGCTCACGCTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTG TCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTT CATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCA TTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGC ATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTC CAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTG CTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGA GTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTC TAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTG CTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCG GCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGT GGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCA CTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGA TGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACT GCTGGTGGTGGGATCCATGTCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA20129.hp2 NA19043.hp2 NA20129.hp2	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0001 a0036c0040t0001	a0036c0040t0001g0044 a0036c0040t0001g0044	2	426	0.0047	972	c.892 others(981): Show c.8927_8928insCAGACATGGATCCCACCACCAGCAGTCAGCAGACAG CTCCAGACACTCAGGCATTGGGCACGGACAAGCTTCATCTGCAGTCAGAG ACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAGTGACAATGAGGGA CATTCAGAAGACTCAGACACACAGTCAGTGTCAGCCCACGGACAGGCTGG GTCCCATCAGCAGAGCCACCAAGAGTCCGCACGTGGCCGGTCAGGGGAAA CGTCTGGACATTCAGGATCTTTCCTCTACCAGGTGAGCACTCATGAACAG TCTGAGTCCTCCCATGGATGGACGGGGCCCAGCACTAGAGGAAGACAAGG ATCCCGCCATGAGCAGGCACAAGACAGCTCCAGGCACTCAGCATCCCAAG ACGGTCAGGACACCATTCGTGGACACCCGGGGTCAAGCAGAGGAGGAAGG CAGGGGTACCACCACGAGCATTCGGTAGATAGCTCTGGACACTCAGGGTC CCATCACAGCCACACCACATCCCAGGGAAGGTCTGATGCCTCCCGTGGGC AGTCAGGATCCAGAAGTGCAAGCAGAACAACACGTAATGAGGAACAATCA GGAGACGGCTCCAGGCACTCAGGGTCGCGTCACCATGAAGCTTCCACTCA TGCCGACATCTCTAGACACTCACAGGCAGTCCAGGGACAATCAGAGGGGT CCAGGAGAAGCAGGCGCCAGGGATCCAGCGTGAGCCAGGACAGTGACAGT GAGGGACATTCAGAAGACTCTGAGAGGTGGTCTGGGTCTGCTTCCAGAAA CCATCATGGATCTGCTCAGGAGCAGCTAAGAGATGGCTCCAGACACCCCA GGTCCCATCAAGAAGACAGAGCTGGTCATGGGCACTCTGCAGACAGCTCC AGACAATCAGGCACTCGTCACACACAGACTTCCTCTGGTGGACAGGCTGC ATCATCCCATGAACAGGCAAGATCAAGTGCAGGAGA	p.Gly others(987): Show p.Gly2975_Glu2976insAspArgHisGlySerHisHisGlnGlnSer AlaAspSerSerArgHisSerGlyIleGlyHisGlyGlnAlaSerSerAl aValArgAspSerGlyHisArgGlyTyrSerGlySerGlnAlaSerAspA snGluGlyHisSerGluAspSerAspThrGlnSerValSerAlaHisGly GlnAlaGlySerHisGlnGlnSerHisGlnGluSerAlaArgGlyArgSe rGlyGluThrSerGlyHisSerGlySerPheLeuTyrGlnValSerThrH isGluGlnSerGluSerSerHisGlyTrpThrGlyProSerThrArgGly ArgGlnGlySerArgHisGluGlnAlaGlnAspSerSerArgHisSerAl aSerGlnAspGlyGlnAspThrIleArgGlyHisProGlySerSerArgG lyGlyArgGlnGlyTyrHisHisGluHisSerValAspSerSerGlyHis SerGlySerHisHisSerHisThrThrSerGlnGlyArgSerAspAlaSe rArgGlyGlnSerGlySerArgSerAlaSerArgThrThrArgAsnGluG luGlnSerGlyAspGlySerArgHisSerGlySerArgHisHisGluAla SerThrHisAlaAspIleSerArgHisSerGlnAlaValGlnGlyGlnSe rGluGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspS erAspSerGluGlyHisSerGluAspSerGluArgTrpSerGlySerAla SerArgAsnHisHisGlySerAlaGlnGluGlnLeuArgAspGlySerAr gHisProArgSerHisGlnGluAspArgAlaGlyHisGlyHisSerAlaA spSerSerArgGlnSerGlyThrArgHisThrGlnThrSerSerGlyGly GlnAlaAlaSerSerHisGluGlnAlaArgSerSerAlaGly	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8999/12793	8927/12186	2976/4061		chr1	TogoVar
FMN2_chr1_240086883_240480187	240092766	A A	ACAG ACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG02647.hp1 HG02647.hp2 others(1): Show HG01168.hp2 HG02647.hp1 HG02647.hp2 HG03486.hp2	a0074 a0075 a0076 others(1): Show a0074 a0075 a0076 a0077	a0074c0058 a0075c0057 a0076c0059 others(1): Show a0074c0058 a0075c0057 a0076c0059 a0077c0060	a0074c0058t0001 a0075c0057t0001 a0076c0059t0001 others(1): Show a0074c0058t0001 a0075c0057t0001 a0076c0059t0001 a0077c0060t0001	a0074c0058t0001g0143 a0075c0057t0001g0142 a0076c0059t0001g0141 others(1): Show a0074c0058t0001g0143 a0075c0057t0001g0142 a0076c0059t0001g0141 a0077c0060t0001g0140	4	174	0.0230	3	c.674 others(10): Show c.674_676dupAGC	p.Gln others(6): Show p.Gln225dup	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	1/18	904/6429	677/5169	226/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207539	A A	ACCCCCT ACCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp2 HG02976.hp1 HG03471.hp2 others(5): Show HG02723.hp2 HG02976.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0008 a0016 a0092 a0008 a0016 a0092	a0008c0019 a0008c0055 a0008c0110 others(3): Show a0008c0019 a0008c0055 a0008c0110 a0016c0011 a0016c0027 a0092c0028	a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 others(5): Show a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 a0008c0110t0003 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001 a0092c0028t0001	a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 others(5): Show a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 a0008c0110t0003g0170 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160 a0092c0028t0001g0145	8	174	0.0460	6	c.273 others(15): Show c.2736_2741dupCCCTCC	p.Pro others(13): Show p.Pro913_Pro914dup	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	2969/6429	2742/5169	914/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207646	C C	CGCCCCCT others(17): Show CGCCCCCTCTACCCGGAGCGGCAAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG01168.hp2	a0077 a0077	a0077c0060 a0077c0060	a0077c0060t0001 a0077c0060t0001	a0077c0060t0001g0140 a0077c0060t0001g0140	1	174	0.0058	24	c.283 others(33): Show c.2835_2858dupGCCCCCTCTACCCGGAGCGGCAAT	p.Ala others(37): Show p.Ala952_Ile953insMetProProLeuProGlyAlaAla	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3086/6429	2859/5169	953/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207647	G G	GCCCCCTC others(26): Show GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00621.hp2 HG01243.hp2 others(22): Show HG00140.hp2 HG00621.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02109.hp1 HG02129.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18948.hp2 NA18952.hp2 NA19007.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0004 a0005 a0010 others(9): Show a0004 a0005 a0010 a0013 a0025 a0038 a0041 a0062 a0063 a0074 a0080 a0081	a0004c0006 a0004c0094 a0004c0114 others(16): Show a0004c0006 a0004c0094 a0004c0114 a0005c0024 a0005c0130 a0005c0135 a0010c0003 a0010c0050 a0013c0020 a0013c0081 a0025c0032 a0025c0033 a0038c0126 a0041c0111 a0062c0065 a0063c0134 a0074c0058 a0080c0029 a0081c0031	a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 others(20): Show a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 a0004c0094t0008 a0004c0114t0006 a0005c0024t0005 a0005c0130t0001 a0005c0135t0005 a0010c0003t0001 a0010c0003t0003 a0010c0003t0006 a0010c0050t0001 a0013c0020t0001 a0013c0081t0002 a0025c0032t0003 a0025c0033t0007 a0038c0126t0008 a0041c0111t0001 a0062c0065t0002 a0063c0134t0005 a0074c0058t0001 a0080c0029t0001 a0081c0031t0001	a0004c0006t0002g0087 a0004c0006t0003g0050 a0004c0006t0004g0091 others(22): Show a0004c0006t0002g0087 a0004c0006t0003g0050 a0004c0006t0004g0091 a0004c0094t0008g0155 a0004c0114t0006g0108 a0005c0024t0005g0148 a0005c0024t0005g0150 a0005c0130t0001g0165 a0005c0135t0005g0149 a0010c0003t0001g0016 a0010c0003t0003g0026 a0010c0003t0006g0154 a0010c0050t0001g0025 a0013c0020t0001g0082 a0013c0020t0001g0106 a0013c0081t0002g0099 a0025c0032t0003g0003 a0025c0033t0007g0024 a0038c0126t0008g0156 a0041c0111t0001g0132 a0062c0065t0002g0092 a0063c0134t0005g0151 a0074c0058t0001g0143 a0080c0029t0001g0015 a0081c0031t0001g0018	25	174	0.1437	33	c.284 others(42): Show c.2843_2844insTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCT	p.Leu others(46): Show p.Leu948_Pro949insProGlyAlaGlyIleProLeuProProProLe u	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3071/6429	2844/5169	948/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207647	G G	GCCCCCTC others(92): Show GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAG CAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCTTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp1 HG02970.hp2 NA20129.hp2 HG02257.hp1 HG02970.hp2 NA20129.hp2	a0018 a0091 a0018 a0091	a0018c0095 a0018c0131 a0091c0049 a0018c0095 a0018c0131 a0091c0049	a0018c0095t0008 a0018c0131t0005 a0091c0049t0007 a0018c0095t0008 a0018c0131t0005 a0091c0049t0007	a0018c0095t0008g0167 a0018c0131t0005g0146 a0091c0049t0007g0157 a0018c0095t0008g0167 a0018c0131t0005g0146 a0091c0049t0007g0157	3	174	0.0172	99	c.284 others(108): Show c.2843_2844insTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCC CGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCC TTCCTCCCCCTCT	p.Leu others(112): Show p.Leu948_Pro949insProGlyAlaGlyIleProLeuProProProLe uProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleP roLeuProProProLeu	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3071/6429	2844/5169	948/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207647	G G	GCCCCCTC others(158): Show GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAG CAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCTTCCT CCCCCTCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGC GGGCATACCCCTTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01069.hp2 HG01069.hp2	a0079 a0079	a0079c0034 a0079c0034	a0079c0034t0001 a0079c0034t0001	a0079c0034t0001g0013 a0079c0034t0001g0013	1	174	0.0058	165	c.284 others(174): Show c.2843_2844insTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCC CGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCC TTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCC GGAGCGGGCATACCCCTTCCTCCCCCTCT	p.Leu others(178): Show p.Leu948_Pro949insProGlyAlaGlyIleProLeuProProProLe uProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleP roLeuProProProLeuProGlyAlaGlyIleProProProProProLeu ProGlyAlaGlyIleProLeuProProProLeu	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3071/6429	2844/5169	948/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207698	A A	AGGCATAC others(59): Show AGGCATACCCCTTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCCTCCAC CCCCTCTACCCGGAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp1 HG01516.hp1 HG01517.hp2 HG01106.hp1 HG01516.hp1 HG01517.hp2	a0015 a0015	a0015c0005 a0015c0005	a0015c0005t0002 a0015c0005t0003 a0015c0005t0002 a0015c0005t0003	a0015c0005t0002g0040 a0015c0005t0003g0041 a0015c0005t0003g0045 a0015c0005t0002g0040 a0015c0005t0003g0041 a0015c0005t0003g0045	3	174	0.0172	66	c.289 others(75): Show c.2897_2962dupTTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCCTC CACCCCCTCTACCCGGAGCGGGCATACCCC	p.Leu others(13): Show p.Leu966_Pro987dup	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3190/6429	2963/5169	988/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207709	T T	TTCCTCCC others(26): Show TTCCTCCCCCTCTTCCCGGAGCGGGCATACCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03688.hp2 HG03688.hp2	a0089 a0089	a0089c0047 a0089c0047	a0089c0047t0001 a0089c0047t0001	a0089c0047t0001g0031 a0089c0047t0001g0031	1	174	0.0058	33	c.291 others(42): Show c.2918_2919insGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGC	p.Ala others(46): Show p.Ala973_Gly974insGlyIleProProProProProLeuProGlyAl a	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3146/6429	2919/5169	973/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(125): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCTCTACCCGGAGCGGGC ATACCCCCTCCTCCCCCACTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02109.hp2 HG02258.hp2 others(4): Show HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02647.hp2 HG02896.hp1 HG03453.hp2 NA19043.hp1	a0019 a0026 a0059 others(2): Show a0019 a0026 a0059 a0066 a0075	a0019c0022 a0026c0042 a0026c0043 others(3): Show a0019c0022 a0026c0042 a0026c0043 a0059c0075 a0066c0107 a0075c0057	a0019c0022t0006 a0026c0042t0001 a0026c0043t0003 others(3): Show a0019c0022t0006 a0026c0042t0001 a0026c0043t0003 a0059c0075t0002 a0066c0107t0001 a0075c0057t0001	a0019c0022t0006g0135 a0019c0022t0006g0162 a0026c0042t0001g0004 others(4): Show a0019c0022t0006g0135 a0019c0022t0006g0162 a0026c0042t0001g0004 a0026c0043t0003g0014 a0059c0075t0002g0089 a0066c0107t0001g0134 a0075c0057t0001g0142	7	174	0.0402	132	c.300 others(141): Show c.3005_3006insTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACT TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATAC CCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCC	p.Pro others(147): Show p.Pro1002_Leu1003insLeuProGlyAlaGlyIleProProProPro ProLeuProGlyAlaGlyIleProProProProProLeuProGlyAlaGl yIleProProProProProLeuProGlyAlaGlyIleProProProProP ro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3233/6429	3006/5169	1002/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(92): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGAGCGGGCATACCTCCTCCGCCCCCACTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp1 HG02165.hp1 HG02040.hp1 HG02165.hp1	a0020 a0020	a0020c0109 a0020c0125 a0020c0109 a0020c0125	a0020c0109t0003 a0020c0125t0003 a0020c0109t0003 a0020c0125t0003	a0020c0109t0003g0118 a0020c0125t0003g0126 a0020c0109t0003g0118 a0020c0125t0003g0126	2	174	0.0115	99	c.299 others(108): Show c.2993_2994insTCCTCCGCCCCCACTTCCCGGAGCGGGCATACCTCC TCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCG GAGCGGGCATACC	p.Pro others(112): Show p.Pro998_Pro999insProProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP roGlyAlaGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3221/6429	2994/5169	998/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(125): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGAGCGGGCATACCTCCTCCGCCCCCACTTCCCGGAGCGGGC ATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00735.hp2 HG00738.hp2 others(13): Show HG00099.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01433.hp2 HG01516.hp2 HG01928.hp2 HG02083.hp1 HG02683.hp2 HG03041.hp1 HG03831.hp1 HG03831.hp2 NA18952.hp1 NA20300.hp2 NA21309.hp2	a0001 a0006 a0048 others(3): Show a0001 a0006 a0048 a0087 a0088 a0094	a0001c0001 a0001c0017 a0001c0076 others(7): Show a0001c0001 a0001c0017 a0001c0076 a0001c0089 a0001c0129 a0006c0077 a0048c0078 a0087c0044 a0088c0045 a0094c0040	a0001c0001t0002 a0001c0017t0002 a0001c0017t0004 others(8): Show a0001c0001t0002 a0001c0017t0002 a0001c0017t0004 a0001c0076t0004 a0001c0089t0002 a0001c0129t0001 a0006c0077t0004 a0048c0078t0002 a0087c0044t0001 a0088c0045t0001 a0094c0040t0001	a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0071 others(13): Show a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0102 a0001c0001t0002g0169 a0001c0017t0002g0101 a0001c0017t0004g0068 a0001c0076t0004g0083 a0001c0089t0002g0090 a0001c0129t0001g0164 a0006c0077t0004g0096 a0048c0078t0002g0053 a0087c0044t0001g0012 a0088c0045t0001g0005 a0094c0040t0001g0032	16	174	0.0920	132	c.299 others(141): Show c.2993_2994insTCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCC TCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCG GAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACC	p.Pro others(145): Show p.Pro998_Pro999insProProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP roGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3221/6429	2994/5169	998/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(92): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0085 a0085	a0085c0048 a0085c0048	a0085c0048t0001 a0085c0048t0001	a0085c0048t0001g0029 a0085c0048t0001g0029	1	174	0.0058	99	c.298 others(108): Show c.2981_2982insGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGC GGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTC CCCCACTTCCCGG	p.Gly others(112): Show p.Gly994_Ala995insAlaGlyIleProLeuProProProLeuProGl yAlaGlyIleProProProProProLeuProGlyAlaGlyIleProProP roProProLeuProGly	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3209/6429	2982/5169	994/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(125): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGC ATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01884.hp2 NA20129.hp1 HG01081.hp2 HG01884.hp2 NA20129.hp1	a0006 a0073 a0006 a0073	a0006c0023 a0073c0128 a0006c0023 a0073c0128	a0006c0023t0001 a0073c0128t0002 a0006c0023t0001 a0073c0128t0002	a0006c0023t0001g0078 a0006c0023t0001g0080 a0073c0128t0002g0095 a0006c0023t0001g0078 a0006c0023t0001g0080 a0073c0128t0002g0095	3	174	0.0172	132	c.297 others(141): Show c.2972_2973insTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCT ACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATAC CTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCC	p.Pro others(145): Show p.Pro991_Leu992insLeuProGlyAlaGlyIleProProProProPr oLeuProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyI leProProProProProLeuProGlyAlaGlyIleProProProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3200/6429	2973/5169	991/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(191): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCC CTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGC ATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCCCCTCCACCCCC TCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02738.hp1 HG02738.hp1	a0047 a0047	a0047c0122 a0047c0122	a0047c0122t0001 a0047c0122t0001	a0047c0122t0001g0123 a0047c0122t0001g0123	1	174	0.0058	198	c.297 others(207): Show c.2972_2973insTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCT ACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATAC CCCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTT CCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACC CCCTCCTCCCCC	p.Pro others(211): Show p.Pro991_Leu992insLeuProGlyAlaGlyIleProProProProPr oLeuProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyI leProProProProProLeuProGlyAlaGlyIleProProProProPro LeuProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIl eProProProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3200/6429	2973/5169	991/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(191): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCTTCCTCCCC CTCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGC ATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCC TCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG00738.hp1	a0064 a0064	a0064c0066 a0064c0066	a0064c0066t0002 a0064c0066t0002	a0064c0066t0002g0017 a0064c0066t0002g0017	1	174	0.0058	198	c.296 others(207): Show c.2962_2963insTTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCCTC CACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGA GCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCC TCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAG CGGGCATACCCC	p.Pro others(211): Show p.Pro987_Pro988insLeuProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP roGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIlePro ProProProProLeuProGlyAlaGlyIleProProProProProLeuPr oGlyAlaGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3190/6429	2963/5169	988/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207734	A A	AATACCTC others(191): Show AATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCTTCCTCCCC CTCTTCCCGGAGCAGGAATACCTCTTCCACCCCCTCTACCCGGAGCGGGC ATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCC TCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG01891.hp2	a0043 a0043	a0043c0105 a0043c0105	a0043c0105t0010 a0043c0105t0010	a0043c0105t0010g0171 a0043c0105t0010g0171	1	174	0.0058	198	c.296 others(207): Show c.2962_2963insTTCCTCCCCCTCTTCCCGGAGCAGGAATACCTCTTC CACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGA GCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCC TCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAG CGGGCATACCCC	p.Pro others(211): Show p.Pro987_Pro988insLeuProProProLeuProGlyAlaGlyIlePr oLeuProProProLeuProGlyAlaGlyIleProProProProProLeuP roGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIlePro ProProProProLeuProGlyAlaGlyIleProProProProProLeuPr oGlyAlaGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3190/6429	2963/5169	988/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207779	T T	TCCCCCAC others(26): Show TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp2 HG02258.hp1 HG01106.hp2 HG02258.hp1	a0052 a0072 a0052 a0072	a0052c0136 a0072c0056 a0052c0136 a0072c0056	a0052c0136t0005 a0072c0056t0001 a0052c0136t0005 a0072c0056t0001	a0052c0136t0005g0152 a0072c0056t0001g0144 a0052c0136t0005g0152 a0072c0056t0001g0144	2	174	0.0115	33	c.300 others(42): Show c.3000_3032dupGCCCCCACTTCCCGGAGCGGGCATACCCCCTCC	p.Pro others(48): Show p.Pro1011_Pro1012insProProLeuProGlyAlaGlyIleProPro Pro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3260/6429	3033/5169	1011/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207779	T T	TCCCCCAC others(125): Show TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAG CGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCA CCCCCTCTACCCGGAGCGGGCATACCCCCTCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp1	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0002 a0006c0072t0002	a0006c0072t0002g0086 a0006c0072t0002g0086	1	174	0.0058	132	c.312 others(141): Show c.3129_3260dupTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCC TCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAG CGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCC	p.Pro others(147): Show p.Pro1087_Pro1088insProProProLeuProGlyAlaGlyIlePro ProProProProLeuProGlyAlaGlyIleProProProProProLeuPr oGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleProP ro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3488/6429	3261/5169	1087/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(125): Show TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATAC CCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCACTT CCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0065 a0065	a0065c0112 a0065c0112	a0065c0112t0003 a0065c0112t0003	a0065c0112t0003g0112 a0065c0112t0003g0112	1	174	0.0058	132	c.298 others(141): Show c.2984_2985insAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGG CATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCC CACTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGC	p.Ala others(145): Show p.Ala995_Gly996insGlyIleProProProProProLeuProGlyAl aGlyIleProProProProProLeuProGlyAlaGlyIleProProProP roProLeuProGlyAlaGlyIleProProProProProLeuProGlyAla	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3212/6429	2985/5169	995/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(92): Show TCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATAC CCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp1 HG01891.hp1	a0080 a0080	a0080c0029 a0080c0029	a0080c0029t0001 a0080c0029t0001	a0080c0029t0001g0015 a0080c0029t0001g0015	1	174	0.0058	99	c.299 others(108): Show c.2999_3000insTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCC CCCACTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGG GCATACCCCCTCC	p.Pro others(114): Show p.Pro1000_Pro1001insProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProProProProLeuProGl yAlaGlyIleProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3227/6429	3000/5169	1000/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(59): Show TCCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATAC CTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00621.hp2 HG01069.hp2 others(17): Show HG00140.hp2 HG00621.hp2 HG01069.hp2 HG01243.hp2 HG01884.hp1 HG01981.hp1 HG02129.hp1 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 NA18948.hp2 NA18952.hp2 NA19007.hp2 NA19240.hp2 NA20300.hp1	a0004 a0010 a0013 others(7): Show a0004 a0010 a0013 a0025 a0038 a0062 a0074 a0079 a0081 a0091	a0004c0006 a0004c0094 a0004c0114 others(12): Show a0004c0006 a0004c0094 a0004c0114 a0010c0003 a0010c0050 a0013c0020 a0013c0081 a0025c0032 a0025c0033 a0038c0126 a0062c0065 a0074c0058 a0079c0034 a0081c0031 a0091c0049	a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 others(16): Show a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 a0004c0094t0008 a0004c0114t0006 a0010c0003t0001 a0010c0003t0003 a0010c0003t0006 a0010c0050t0001 a0013c0020t0001 a0013c0081t0002 a0025c0032t0003 a0025c0033t0007 a0038c0126t0008 a0062c0065t0002 a0074c0058t0001 a0079c0034t0001 a0081c0031t0001 a0091c0049t0007	a0004c0006t0002g0087 a0004c0006t0003g0050 a0004c0006t0004g0091 others(17): Show a0004c0006t0002g0087 a0004c0006t0003g0050 a0004c0006t0004g0091 a0004c0094t0008g0155 a0004c0114t0006g0108 a0010c0003t0001g0016 a0010c0003t0003g0026 a0010c0003t0006g0154 a0010c0050t0001g0025 a0013c0020t0001g0082 a0013c0020t0001g0106 a0013c0081t0002g0099 a0025c0032t0003g0003 a0025c0033t0007g0024 a0038c0126t0008g0156 a0062c0065t0002g0092 a0074c0058t0001g0143 a0079c0034t0001g0013 a0081c0031t0001g0018 a0091c0049t0007g0157	20	174	0.1149	66	c.299 others(75): Show c.2999_3000insTCCCCCACTTCCCGGAGCGGGCATACCTCCTCCACC CCCTCTACCCGGAGCGGGCATACCCCCTCC	p.Pro others(81): Show p.Pro1000_Pro1001insProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3227/6429	3000/5169	1000/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(59): Show TCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATAC CTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02165.hp2 HG02165.hp2	a0050 a0050	a0050c0073 a0050c0073	a0050c0073t0002 a0050c0073t0002	a0050c0073t0002g0093 a0050c0073t0002g0093	1	174	0.0058	66	c.299 others(75): Show c.2999_3000insTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACC CCCTCTACCCGGAGCGGGCATACCCCCTCC	p.Pro others(81): Show p.Pro1000_Pro1001insProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3227/6429	3000/5169	1000/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207788	T T	TCCCGGAG others(26): Show TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp1 HG02922.hp1 HG02976.hp1 others(8): Show HG02257.hp1 HG02922.hp1 HG02976.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0008 a0016 a0018 others(2): Show a0008 a0016 a0018 a0040 a0042	a0008c0019 a0008c0055 a0008c0110 others(6): Show a0008c0019 a0008c0055 a0008c0110 a0016c0011 a0016c0027 a0018c0095 a0018c0131 a0040c0090 a0042c0067	a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 others(8): Show a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 a0008c0110t0003 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001 a0018c0095t0008 a0018c0131t0005 a0040c0090t0002 a0042c0067t0002	a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 others(8): Show a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 a0008c0110t0003g0170 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160 a0018c0095t0008g0167 a0018c0131t0005g0146 a0040c0090t0002g0081 a0042c0067t0002g0051	11	174	0.0632	33	c.299 others(42): Show c.2993_2994insTCCTCCACCCCCTCTACCCGGAGCGGGCATACC	p.Pro others(46): Show p.Pro998_Pro999insProProProProLeuProGlyAlaGlyIlePr o	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3221/6429	2994/5169	998/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207854	T T	TCCCGGAG others(26): Show TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp1 HG03453.hp1	a0051 a0051	a0051c0103 a0051c0103	a0051c0103t0001 a0051c0103t0001	a0051c0103t0001g0109 a0051c0103t0001g0109	1	174	0.0058	33	c.306 others(42): Show c.3060_3092dupTCCTCCACCCCCTCTACCCGGAGCGGGCATACC	p.Pro others(48): Show p.Pro1031_Pro1032insProProProProLeuProGlyAlaGlyIle Pro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3320/6429	3093/5169	1031/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207887	A A	ACCCGGAG others(26): Show ACCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04199.hp1 HG04199.hp1	a0053 a0053	a0053c0097 a0053c0097	a0053c0097t0001 a0053c0097t0001	a0053c0097t0001g0119 a0053c0097t0001g0119	1	174	0.0058	33	c.313 others(42): Show c.3132_3164dupGCCCCCACTTCCCGGAGCGGGCATACCCCCTCC	p.Pro others(48): Show p.Pro1055_Pro1056insProProLeuProGlyAlaGlyIleProPro Pro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3392/6429	3165/5169	1055/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240207920	T T	TCCCGGAG others(26): Show TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02976.hp1 HG03471.hp2 HG03516.hp2 others(4): Show HG02976.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0008 a0016 a0008 a0016	a0008c0019 a0008c0055 a0008c0110 others(2): Show a0008c0019 a0008c0055 a0008c0110 a0016c0011 a0016c0027	a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 others(4): Show a0008c0019t0001 a0008c0019t0007 a0008c0055t0001 a0008c0110t0003 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001	a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 others(4): Show a0008c0019t0001g0133 a0008c0019t0007g0113 a0008c0055t0001g0079 a0008c0110t0003g0170 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160	7	174	0.0402	33	c.312 others(42): Show c.3125_3126insTCCTCCACCCCCTCTACCCGGAGCGGGCATACC	p.Pro others(48): Show p.Pro1042_Pro1043insProProProProLeuProGlyAlaGlyIle Pro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3353/6429	3126/5169	1042/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208004	T T	TCCTCCAC others(125): Show TCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTTC CCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCC CCTCCTCCCCCTCTTCCCGGAGCGGGCATACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02976.hp2 HG02976.hp2	a0046 a0046	a0046c0132 a0046c0132	a0046c0132t0005 a0046c0132t0005	a0046c0132t0005g0147 a0046c0132t0005g0147	1	174	0.0058	132	c.326 others(141): Show c.3260_3261insTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCC TCCCCCTCTTCCCGGAGCGGGCATACCCCCTCCACCCCCTCTACCCGGAG CGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCC	p.Pro others(147): Show p.Pro1087_Pro1088insProProProLeuProGlyAlaGlyIlePro ProProProProLeuProGlyAlaGlyIleProProProProProLeuPr oGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleProP ro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3488/6429	3261/5169	1087/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208022	C C	CGGAGCGG others(26): Show CGGAGCGGGCATACCCCCTCCGCCCCCACTTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04199.hp2 HG04199.hp2	a0086 a0086	a0086c0046 a0086c0046	a0086c0046t0001 a0086c0046t0001	a0086c0046t0001g0030 a0086c0046t0001g0030	1	174	0.0058	33	c.324 others(42): Show c.3242_3243insTGGAGCGGGCATACCCCCTCCGCCCCCACTTCC	p.Pro others(48): Show p.Pro1081_Gly1082insGlyAlaGlyIleProProProProProLeu Pro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3470/6429	3243/5169	1081/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208028	G G	GGGCATAC others(389): Show GGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGC CCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCG GGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCC CCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGG GCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCC CCTCTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCTGGAGCGGG CATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCC CTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0045 a0045	a0045c0124 a0045c0124	a0045c0124t0001 a0045c0124t0001	a0045c0124t0001g0161 a0045c0124t0001g0161	1	174	0.0058	396	c.326 others(405): Show c.3260_3261insTCCGCCCCCACTTCCCGGAGCGGGCATACCCCCTCC TCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAG CGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG CCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGC GGGCATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCGC CCCCACTTCCTGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCG GGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACC CCCTCTACCCGGAGCAGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGG GCATACCCCC	p.Pro others(411): Show p.Pro1087_Pro1088insProProProLeuProGlyAlaGlyIlePro ProProProProLeuProGlyAlaGlyIleProProProProProLeuPr oGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleProP roProProProLeuProGlyAlaGlyIleProProProProProLeuPro GlyAlaGlyIleProProProProProLeuProGlyAlaGlyIleProPr oProProProLeuProGlyAlaGlyIleProProProProProLeuProG lyAlaGlyIleProProProProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProProProProLeuProGl yAlaGlyIleProPro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3488/6429	3261/5169	1087/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208028	G G	GGGCATAC others(125): Show GGGCATACCCCCTCCGCCCCCACTTCCTGGAGCGGGCATACCCCCTCCGC CCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCG GGCATACCTCCTCCACCCCCTCTACCCGGAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 HG02257.hp2 HG02280.hp2 others(3): Show HG01243.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG03486.hp1 HG03486.hp2	a0001 a0069 a0076 a0001 a0069 a0076	a0001c0009 a0001c0108 a0069c0106 others(1): Show a0001c0009 a0001c0108 a0069c0106 a0076c0059	a0001c0009t0001 a0001c0009t0006 a0001c0108t0001 others(2): Show a0001c0009t0001 a0001c0009t0006 a0001c0108t0001 a0069c0106t0001 a0076c0059t0001	a0001c0009t0001g0072 a0001c0009t0001g0111 a0001c0009t0006g0131 others(3): Show a0001c0009t0001g0072 a0001c0009t0001g0111 a0001c0009t0006g0131 a0001c0108t0001g0075 a0069c0106t0001g0172 a0076c0059t0001g0141	6	174	0.0345	132	c.324 others(141): Show c.3242_3243insTGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGG AGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTC CACCCCCTCTACCCGGAGCAGGCATACCCCCTCCGCCCCCACTTCC	p.Pro others(147): Show p.Pro1081_Gly1082insGlyAlaGlyIleProProProProProLeu ProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP ro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3470/6429	3243/5169	1081/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208028	G G	GGGCATAC others(125): Show GGGCATACCCCCTCCGCCCCCACTTCCTGGAGCGGGCATACCCCCTCCGC CCCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCG GGCATACCTCCTCCGCCCCCTCTACCCGGAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02809.hp1 HG02809.hp1	a0068 a0068	a0068c0133 a0068c0133	a0068c0133t0005 a0068c0133t0005	a0068c0133t0005g0153 a0068c0133t0005g0153	1	174	0.0058	132	c.324 others(141): Show c.3242_3243insTGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGG AGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTC CGCCCCCTCTACCCGGAGCAGGCATACCCCCTCCGCCCCCACTTCC	p.Pro others(147): Show p.Pro1081_Gly1082insGlyAlaGlyIleProProProProProLeu ProGlyAlaGlyIleProProProProProLeuProGlyAlaGlyIlePr oProProProProLeuProGlyAlaGlyIleProProProProProLeuP ro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3470/6429	3243/5169	1081/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208028	G G	GGGCATAC others(224): Show GGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTC CCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCG GGCATACCCCCTCCGCCCCCACTTCCTGGAGCGGGCATACCCCCTCCGCC CCCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGG GCATACCTCCTCCACCCCCTCTACCCGGAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG01168.hp2	a0077 a0077	a0077c0060 a0077c0060	a0077c0060t0001 a0077c0060t0001	a0077c0060t0001g0140 a0077c0060t0001g0140	1	174	0.0058	231	c.323 others(240): Show c.3230_3231insTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCTCC CCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCTCTACCCGGAGCGG GCATACCCCCTCCGCCCCCACTTCCTGGAGCGGGCATACCCCCTCCGCCC CCACTTCCCGGAGCGGGCATACCCCCTCCTCCCCCTCTTCCCGGAGCGGG CATACCTCCTCCACCCCCTCTACCCGGAGCAGGCATACCCCCTCC	p.Pro others(246): Show p.Pro1077_Pro1078insProProLeuProGlyAlaGlyIleProPro ProProProLeuProGlyAlaGlyIleProProProProProLeuProGl yAlaGlyIleProProProProProLeuProGlyAlaGlyIleProProP roProProLeuProGlyAlaGlyIleProProProProProLeuProGly AlaGlyIleProProProProProLeuProGlyAlaGlyIleProProPr o	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3458/6429	3231/5169	1077/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208060	C C	CGGGCATA others(59): Show CGGGCATACCCCCACCTCCCCCTCTACCCGGAGCGGGCATACCCCCTCCG CCCCCTCTACCCGGAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 NA21309.hp1 HG00140.hp2 NA21309.hp1	a0042 a0081 a0042 a0081	a0042c0067 a0081c0031 a0042c0067 a0081c0031	a0042c0067t0002 a0081c0031t0001 a0042c0067t0002 a0081c0031t0001	a0042c0067t0002g0051 a0081c0031t0001g0018 a0042c0067t0002g0051 a0081c0031t0001g0018	2	174	0.0115	66	c.325 others(75): Show c.3258_3323dupCCCACCTCCCCCTCTACCCGGAGCGGGCATACCCCC TCCGCCCCCTCTACCCGGAGTGGGCATACC	p.Pro others(81): Show p.Pro1108_Pro1109insProProProProLeuProGlyAlaGlyIle ProProProProProLeuProGlyValGlyIlePro	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3551/6429	3324/5169	1108/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN2_chr1_240086883_240480187	240208324	C C	CGGGCATA others(26): Show CGGGCATACCCCCTCCGCCCCCTCTACCTGGAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02165.hp2 NA18948.hp1 HG02165.hp2 NA18948.hp1	a0050 a0055 a0050 a0055	a0050c0073 a0055c0102 a0050c0073 a0055c0102	a0050c0073t0002 a0055c0102t0003 a0050c0073t0002 a0055c0102t0003	a0050c0073t0002g0093 a0055c0102t0003g0114 a0050c0073t0002g0093 a0055c0102t0003g0114	2	174	0.0115	33	c.351 others(42): Show c.3516_3548dupCATACCCCCTCCGCCCCCTCTACCTGGAGTGGG	p.Gly others(48): Show p.Gly1183_Ile1184insIleProProProProProLeuProGlyVal Gly	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3776/6429	3549/5169	1183/1722	INFO_REALIGN_3_PRIME	chr1	TogoVar
FMNL1_chr17_45216885_45252318	45242067	T T	TCCG TCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00642.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG00642.hp1 HG01192.hp2 HG02055.hp1 HG02145.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp1 HG03579.hp2 HG03831.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0006 a0003c0005t0001g0020 a0003c0005t0001g0022 others(5): Show a0003c0005t0001g0006 a0003c0005t0001g0020 a0003c0005t0001g0022 a0003c0005t0001g0048 a0003c0005t0001g0074 a0003c0005t0001g0103 a0003c0005t0001g0144 a0003c0005t0001g0164	12	384	0.0313	3	c.183 others(12): Show c.1830_1832dupGCC	p.Pro others(6): Show p.Pro611dup	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding	15/27	2073/4003	1833/3303	611/1100	INFO_REALIGN_3_PRIME	chr17	TogoVar
FMNL2_chr2_152330174_152654826	152619552	G G	GCCA GCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0007 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(22): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0017 a0001c0020 a0001c0025 a0001c0028 a0001c0034 a0001c0038 a0001c0043 a0003c0011 a0003c0014 a0003c0018 a0003c0027 a0003c0032 a0003c0041 a0006c0030 a0006c0042 a0007c0029 a0007c0039 a0009c0037 a0010c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0006t0001 a0001c0006t0013 a0001c0010t0002 a0001c0013t0004 a0001c0017t0001 a0001c0017t0007 a0001c0020t0001 a0001c0020t0007 a0001c0025t0012 a0001c0028t0001 a0001c0034t0002 a0001c0038t0001 a0001c0043t0002 a0003c0011t0002 a0003c0011t0003 a0003c0011t0009 a0003c0014t0002 a0003c0014t0009 a0003c0018t0002 a0003c0018t0003 a0003c0027t0002 a0003c0032t0002 a0003c0041t0002 a0006c0030t0001 a0006c0042t0001 a0007c0029t0001 a0007c0039t0001 a0009c0037t0002 a0010c0044t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0023 others(118): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0003g0012 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0005g0063 a0001c0001t0005g0067 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0011g0028 a0001c0001t0015g0150 a0001c0001t0016g0171 a0001c0001t0018g0049 a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0130 a0001c0003t0001g0169 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0002g0061 a0001c0003t0002g0110 a0001c0003t0002g0129 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0143 a0001c0003t0003g0144 a0001c0003t0003g0149 a0001c0005t0001g0019 a0001c0005t0001g0062 a0001c0005t0001g0101 a0001c0005t0001g0118 a0001c0005t0001g0119 a0001c0005t0001g0122 a0001c0005t0001g0141 a0001c0005t0001g0200 a0001c0005t0002g0015 a0001c0005t0002g0020 a0001c0005t0002g0158 a0001c0005t0003g0009 a0001c0005t0003g0040 a0001c0005t0003g0162 a0001c0005t0006g0017 a0001c0006t0001g0114 a0001c0006t0001g0115 a0001c0006t0001g0116 a0001c0006t0001g0120 a0001c0006t0001g0145 a0001c0006t0001g0152 a0001c0006t0001g0176 a0001c0006t0013g0091 a0001c0010t0002g0052 a0001c0010t0002g0148 a0001c0010t0002g0165 a0001c0013t0004g0093 a0001c0013t0004g0095 a0001c0013t0004g0096 a0001c0017t0001g0128 a0001c0017t0007g0123 a0001c0020t0001g0131 a0001c0020t0007g0108 a0001c0025t0012g0087 a0001c0028t0001g0167 a0001c0034t0002g0016 a0001c0038t0001g0126 a0001c0043t0002g0186 a0003c0011t0002g0190 a0003c0011t0003g0132 a0003c0011t0009g0008 a0003c0014t0002g0092 a0003c0014t0009g0189 a0003c0018t0002g0135 a0003c0018t0003g0146 a0003c0027t0002g0106 a0003c0032t0002g0076 a0003c0041t0002g0139 a0006c0030t0001g0082 a0006c0042t0001g0098 a0007c0029t0001g0103 a0007c0039t0001g0097 a0009c0037t0002g0010 a0010c0044t0001g0155	121	200	0.6050	3	c.167 others(12): Show c.1673_1674insACC	p.Pro others(6): Show p.Pro558dup	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	15/26	2104/5630	1674/3279	558/1092	INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXC1_chr6_1604915_1618897	1611567	G G	GGGC GGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(190): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0002c0008 others(1): Show a0002c0002 a0002c0007 a0002c0008 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(21): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0033 a0002c0007t0001 a0002c0008t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0003c0003t0012 a0003c0003t0013 a0003c0003t0020 a0003c0003t0026 a0003c0003t0028	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 others(21): Show a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0007g0000 a0002c0002t0019g0000 a0002c0002t0024g0000 a0002c0002t0025g0000 a0002c0002t0033g0000 a0002c0007t0001g0000 a0002c0008t0001g0000 a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 a0003c0003t0004g0000 a0003c0003t0005g0000 a0003c0003t0006g0000 a0003c0003t0008g0000 a0003c0003t0010g0000 a0003c0003t0012g0000 a0003c0003t0013g0000 a0003c0003t0020g0000 a0003c0003t0026g0000 a0003c0003t0028g0000	193	428	0.4509	3	c.113 others(12): Show c.1139_1141dupGCG	p.Gly others(6): Show p.Gly380dup	FOXC1	ENSG00000054598.9	transcript	ENST00000645831.2	protein_coding	1/1	1673/3983	1142/1662	381/553	INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXC1_chr6_1604915_1618897	1611782	A A	ACGG ACGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(180): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0007 a0002c0008 others(3): Show a0002c0002 a0002c0007 a0002c0008 a0004c0004 a0004c0011 a0004c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0033 a0002c0007t0001 a0002c0008t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0007 a0004c0004t0011 a0004c0004t0017 a0004c0004t0023 a0004c0011t0001 a0004c0012t0001	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 others(17): Show a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0002c0002t0007g0000 a0002c0002t0019g0000 a0002c0002t0024g0000 a0002c0002t0025g0000 a0002c0002t0033g0000 a0002c0007t0001g0000 a0002c0008t0001g0000 a0004c0004t0001g0000 a0004c0004t0002g0000 a0004c0004t0005g0000 a0004c0004t0007g0000 a0004c0004t0011g0000 a0004c0004t0017g0000 a0004c0004t0023g0000 a0004c0011t0001g0000 a0004c0012t0001g0000	183	428	0.4276	3	c.135 others(12): Show c.1359_1361dupCGG	p.Gly others(6): Show p.Gly454dup	FOXC1	ENSG00000054598.9	transcript	ENST00000645831.2	protein_coding	1/1	1893/3983	1362/1662	454/553	INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXD1_chr5_73441266_73453777	73447067	G G	GGCGGCC GGCGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01891.hp2 HG02717.hp1 others(4): Show HG01109.hp1 HG01891.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03453.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	7	414	0.0169	6	c.129 others(15): Show c.1290_1295dupGGCCGC	p.Ala others(13): Show p.Ala431_Ala432dup	FOXD1	ENSG00000251493.5	transcript	ENST00000615637.3	protein_coding	1/1	1710/2512	1295/1398	432/465		chr5	TogoVar

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