Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(605): Show TATATATGTATACACATATACATATATATGTATACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	112	0.0089	612	c.62+ others(627): Show c.62+9766_62+9767insTGTATACACATATACATATATATGTATACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(605): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0021 a0001c0005t0009g0021	1	352	0.0028	612	c.299 others(629): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377554	G G	GCCCCACC others(605): Show GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCCT GTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCTCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTC TCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0017 a0001c0003t0034g0017	1	370	0.0027	612	c.-15 others(623): Show c.-1585_-1584insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAG GCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGG GGAGAGGCTGGGTGGAGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG GGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGG CACGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1529		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311676	T T	TAGTGTCC others(605): Show TAGTGTCCCAGTTAGCGCTCACCCGGCCTCATCATAGTGCCGCAGTGTGC ACTCACCTGGCCTCAACATACTGTCCCAGTGTGCGGTCACCTGGCCTCAT CATAGTGTCCCAGTGTCCGCTCACCGAGCATCATCATAGTGCCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCACTGGGCCCTCACCCGGCCTC ATGATAGTGTCCCAGTATGCACTCACATGCACAGATCATAGTGCCACAGT GTGCATTCACCTAGCCTCATCATAGCGCCCCAGTGTGCACTCACCTAGGC TCATCATAGTGTCCCACTGTGTGCTCACCTAGCCCCATTATAGTGCCCCA GTGTGCGCTCAACTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCTAG CCTCATCATAGTGTGCCAGTGTACCCTCAGCCGGCCTCATCATAGTGTCC CAGTGTGCGCTCACCAGGCCTCATAACAGTGCCCCAGGGTGCGCTCACCT GGCCTCATCATAGTGTCCCAGTGTGCATTCACCTGGCCTCATCATAGTTT CCCAGTGTGCGCTCACCCGGCCTCATCATGGTGTCCCACTGTGCACTCAC CTGGCCTCATCAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19064.hp1 NA18943.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	344	0.0058	612	c.327 others(629): Show c.327+7105_327+7106insGTGATGAGGCCAGGTGAGTGCACAGTGG GACACCATGATGAGGCCGGGTGAGCGCACACTGGGAAACTATGATGAGGC CAGGTGAATGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACCCT GGGGCACTGTTATGAGGCCTGGTGAGCGCACACTGGGACACTATGATGAG GCCGGCTGAGGGTACACTGGCACACTATGATGAGGCTAGGTGAGCGCACT CTGGGACACTATGATGAGGCCAGTTGAGCGCACACTGGGGCACTATAATG GGGCTAGGTGAGCACACAGTGGGACACTATGATGAGCCTAGGTGAGTGCA CACTGGGGCGCTATGATGAGGCTAGGTGAATGCACACTGTGGCACTATGA TCTGTGCATGTGAGTGCATACTGGGACACTATCATGAGGCCGGGTGAGGG CCCAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCACTAT GATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAC CGCACACTGGGACAGTATGTTGAGGCCAGGTGAGTGCACACTGCGGCACT ATGATGAGGCCGGGTGAGCGCTAACTGGGACACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312045	C C	CATCATAG others(605): Show CATCATAGTGCCCCACTGTGCACTCAACCGGCCTCATCATAGTGTCCCAG TGTGCGCTCACCTAGCCTCATCTTAGTGTTCCAGTGTGCACTCACCTAGC CTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTAATGATAGTATCCC AGTGTGCACTCACCCGGAATCATCATAGTGTCCCAGTGTGCGCTCACCTA GCTTCATCATAATGCCCCAGTGTGAACTCAACTAGCCTCATCATAGTGCC CCAGTCTGCGCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACC TAGACTCATCATATTACCCCAGTGTGCATTCACCTGGCCTCATCATAGTG TCCCAGTGTGCGCTCACCTAACCCCATCATAGTGCCCCAGTGTGCTCTCA CCTAGCCAAATCATACTGTCCCAGTGTGCACTCACCTAGCCCCATCATAG TGTCCCAATGTGCGCTCACACAGCCTGATCATAGTGTCCGACTGTGCGCT CACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCAT AGTGCCCCCGTGTGCACACACCGAGCCTCATTATAGTGTCCCAGTGTGTG CTCACCTACCCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03704.hp2 HG02738.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	344	0.0058	612	c.327 others(629): Show c.327+6736_327+6737insAAGGGTAGGTGAGCACACACTGGGACAC TATAATGAGGCTCGGTGTGTGCACACGGGGGCACTATGATGAGGCTAGGT GAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACAGTCGGAC ACTATGATCAGGCTGTGTGAGCGCACATTGGGACACTATGATGGGGCTAG GTGAGTGCACACTGGGACAGTATGATTTGGCTAGGTGAGAGCACACTGGG GCACTATGATGGGGTTAGGTGAGCGCACACTGGGACACTATGATGAGGCC AGGTGAATGCACACTGGGGTAATATGATGAGTCTAGGTGAGTGCACACTG GGGCACTATGATGAGGCCAGGTGAGCGCAGACTGGGGCACTATGATGAGG CTAGTTGAGTTCACACTGGGGCATTATGATGAAGCTAGGTGAGCGCACAC TGGGACACTATGATGATTCCGGGTGAGTGCACACTGGGATACTATCATTA GGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCAC ACTGGAACACTAAGATGAGGCTAGGTGAGCGCACACTGGGACACTATGAT GAGGCCGGTTGAGTGCACAGTGGGGCACTATGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312556	G G	GTGTCACA others(605): Show GTGTCACAGTGTGCGCTAACCTAGCCTCATCATAGTGCCCCAGTGTCCCC TCACCTAGCCTAATCATAGTGTCCCAGTGTGCACTAATCCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCTTAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTAAT GATAGTGTCCCAGTGTGCACTCACCCGGAATCATCATAGTGTCCAAGTGT GCGCTCCCCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCAGTGTGCGCTCACCTATCCTCATCGCAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCAACTGGCC TCATCATAGTGTCCCAGTGTACACTCACCCGGCCTCATCATAGTGTCCCC GTGTGCGCTGAGCTAGCCTCATCATAGTGCCCCAGTGTACACTCATCTAG CCTTATCATAGTTTCCCAGTGTGCACTCACCTAGCCTCAACATAGTGCCC CAGTGTGCGTTGAACTGGCCTCATTATAGTGCCCCAGTGTGCAATCACCT AGCCTCATCATAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 NA19043.hp2 HG02886.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053	3	344	0.0087	612	c.327 others(629): Show c.327+6225_327+6226insTTATGATGAGGCTAGGTGATTGCACACT GGGGCACTATAATGAGGCCAGTTCAACGCACACTGGGGCACTATGTTGAG GCTAGGTGAGTGCACACTGGGAAACTATGATAAGGCTAGATGAGTGTACA CTGGGGCACTATGATGAGGCTAGCTCAGCGCACACGGGGACACTATGATG AGGCCGGGTGAGTGTACACTGGGACACTATGATGAGGCCAGTTGAGCGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTGCGA TGAGGATAGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGGGAGCGCACACTTGGACACTAT GATGATTCCGGGTGAGTGCACACTGGGACACTATCATTAGGCTAGGTGAG TGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGACACT AAGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGATT AGTGCACACTGGGACACTATGATTAGGCTAGGTGAGGGGACACTGGGGCA CTATGATGAGGCTAGGTTAGCGCACACTGTGACA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312634	G G	GTGCACTA others(605): Show GTGCACTAATCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCC TCATCTTAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCA GTGTGCACTCACCTAGCCTAATGATAGTGTCCCAGTGTGCACTCACCCGG AATCATCATAGTGTCCAAGTGTGCGCTCCCCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCT ATCCTCATCGCAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCAACTGGCCTCATCATAGTGTCCCAGTGTACACTCAC CCGGCCTCATCATAGTGTCCCCGTGTGCGCTGAGCTAGCCTCATCATAGT GCCCCAGTGTACACTCATCTAGCCTTATCATAGTTTCCCAGTGTGCACTC ACCTAGCCTCAACATAGTGCCCCAGTGTGCGTTGAACTGGCCTCATTATA GTGCCCCAGTGTGCAATCACCTAGCCTCATCATAATGTCCCAGTGTGCAC TCACCTGCCCTCATCATAGTACCGCAGTATCCACTCACCTAGCCTCATCA TAGTGTCCCAGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	2	344	0.0058	612	c.327 others(629): Show c.327+6147_327+6148insATCTGGGACACTATGATGAGGCTAGGTG AGTGGATACTGCGGTACTATGATGAGGGCAGGTGAGTGCACACTGGGACA TTATGATGAGGCTAGGTGATTGCACACTGGGGCACTATAATGAGGCCAGT TCAACGCACACTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGGGA AACTATGATAAGGCTAGATGAGTGTACACTGGGGCACTATGATGAGGCTA GCTCAGCGCACACGGGGACACTATGATGAGGCCGGGTGAGTGTACACTGG GACACTATGATGAGGCCAGTTGAGCGCACACTGGGACACTATGATGAGGC TAGGTGAGCGCACACTGGGACACTGCGATGAGGATAGGTGAGCGCACACT GGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAG GCTAGGGGAGCGCACACTTGGACACTATGATGATTCCGGGTGAGTGCACA CTGGGACACTATCATTAGGCTAGGTGAGTGCACACTGGGGCACTATGATG AGGCTAGGTGAGTGCACACTGGGACACTAAGATGAGGCTAGGTGAGCGCA CACTGGGACACTATGATGAGGCCGGATTAGTGCA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(605): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCT CTCCTCTCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCCCCTC TCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	114	0.0088	612	c.-25 others(631): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(605): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0014 a0011c0034t0014	a0011c0034t0014g0049 a0011c0034t0014g0049	1	198	0.0051	612	c.204 others(633): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(605): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0048 a0001c0007t0001g0048	1	198	0.0051	612	c.204 others(633): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGGGGA others(605): Show CGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	344	0.0029	612	c.218 others(629): Show c.2182+158_2182+159insGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(605): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	408	0.0025	612	c.53+ others(627): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(605): Show GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACT ATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAG GAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTC CCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGT GACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTA TGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0014 a0001c0010t0003g0014	1	144	0.0069	612	c.427 others(631): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTATAGAA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATA GTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTAT AGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTAT GATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA CTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGAC AGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCAC ATATCCCTATTCTCAGACAGGAATAGGGATATGTGA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(605): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATCATATATATCATACATATCACATATATGAT ATATATCATATATATCACATATATCATATATATCATATATATCACATATA TGATATATATATCATATATATCACATATATGATATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATATCACAT ATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	612	c.-36 others(623): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATCATATATATCATACA TATCACATATATGATATATATCATATATATCACATATATCATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATATCACATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(605): Show ATATATATCATATATGTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCACATATATATCATAT ATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	350	0.0029	612	c.-34 others(623): Show c.-3475_-3474insTATATATCATATATGTGATATATATCACATATGT GATATATATCATATCACATATCATATGACATATCATATCACATATCACAT ATCACATATCACATATCACATATCATATGATATATATCACATGTGATATA TAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATATGATATATAGCATATGTGATATATA TCATATATATCACATATGCTATATAGCATATGTGATATATATCATATATA TCACATATGCTATATAGCATACGTGATATATATCATATATATCATATATG ATGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
AGXT_chr2_240863824_240885500	240872455	G G	GAGGAGGG others(606): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTC GTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAG GGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGG CGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01516.hp2 others(9): Show HG00735.hp2 HG00741.hp2 HG01516.hp2 HG01517.hp2 HG02572.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp2 HG03669.hp2 NA18522.hp1 NA19043.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0008c0009t0002	a0001c0001t0002g0014 a0001c0001t0003g0018 a0001c0001t0003g0111 others(2): Show a0001c0001t0002g0014 a0001c0001t0003g0018 a0001c0001t0003g0111 a0001c0001t0030g0075 a0008c0009t0002g0014	12	444	0.0270	613	c.525 others(628): Show c.525-517_525-516insTGAGAGTTCGTGAACATGCAGGTGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCG TGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGCAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGXT_chr2_240863824_240885500	240872455	G G	GAGGAGGG others(606): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTC GTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAG GGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGG CGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT TGTGAACATGCAGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG01243.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	2	444	0.0045	613	c.525 others(628): Show c.525-517_525-516insTGAGAGTTCGTGAACATGCAGGTGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCG TGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTTGTGAACATGCAGCAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104933612	C C	CGGGAGGG others(606): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGG AGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGAC CCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCG GGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGGAGGGCGGGAGGCG ACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGA CAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACCGGGAGGGCGGGAG GGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGA GGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTG AGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG02698.hp2 others(4): Show HG01099.hp1 HG01168.hp2 HG02698.hp2 HG02735.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp1	a0004 a0016 a0056 others(2): Show a0004 a0016 a0056 a0059 a0060	a0004c0005 a0016c0041 a0016c0160 others(3): Show a0004c0005 a0016c0041 a0016c0160 a0056c0159 a0059c0161 a0060c0162	a0004c0005t0004 a0016c0041t0006 a0016c0160t0006 others(3): Show a0004c0005t0004 a0016c0041t0006 a0016c0160t0006 a0056c0159t0004 a0059c0161t0013 a0060c0162t0006	a0004c0005t0004g0043 a0016c0041t0006g0036 a0016c0041t0006g0045 others(4): Show a0004c0005t0004g0043 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0056c0159t0004g0042 a0059c0161t0013g0128 a0060c0162t0006g0035	7	356	0.0197	613	c.44 others(624): Show c.4450_*4451insACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCGGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCGGTCCCC TCAGCCGCGGGTCCCCTCCCGCCCTCCCTGTCCCCTCAGCCGCGGGTCCC CTCCCACCCTCCCCTCACTCAGCCGCGGGTCGCCTCCCGCCCTCCCTGTC CCCTCAGTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCAGCCCCGCTC CCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCGCCCTCCCGG TCCCCTCAGACGCGGGTCCCCTCCCGTCCTCCCCTCACTCAGCCCCGGGT CCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCC CGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCG GGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCT CCCCGTCCCCTCAGCCCCGCTCCCCTCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3640		chr14	TogoVar
ALLC_chr2_3653200_3707671	3690289	T T	TCCCCCTC others(606): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCCCCTCCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCTCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0018 a0003c0003t0002g0018	1	274	0.0037	613	c.512 others(630): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCCCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(606): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGG GGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGG AGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGA GGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	350	0.0029	613	c.248 others(628): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTC ACCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCCTCCCCTCGCCTTC CCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCA CCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTC CCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCCCC TCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTC CCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTC CACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTT CCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(606): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	613	c.36 others(624): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(606): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	613	c.36 others(624): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCCGACGCGTGCGGCCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(606): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0153 a0002c0002t0006g0153	1	184	0.0054	613	c.784 others(628): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(606): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAG TGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	300	0.0033	613	c.-70 others(622): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(606): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATGATATATAATATAATTTATTATATTATATAATGATA TATAATATAATTTATTATATTATATAATGATATATAATATAATTTATTAT ATTATATAATGATATATAATATAATTTATTATATTATATAATGATATATA ATATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTA TATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	613	c.39 others(624): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATATATCATTATATAATATAATAAATTATATTATATATCATTATATAAT ATAATAAATTATATTATATATCATTATATAATATAATAAATTATATTATA TATCATTATATAATATAATAAATTATATTATATATCATTATATAATATAA TAAATTATATTATATATCATTATATAATATAATAAATTATATTATATATC ATTATATAATATAATAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(606): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0024 a0001c0003t0006 a0001c0003t0024	a0001c0003t0006g0027 a0001c0003t0024g0004 a0001c0003t0006g0027 a0001c0003t0024g0004	2	146	0.0137	613	c.238 others(632): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCC CTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	256	0.0039	613	c.-45 others(634): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0221 a0001c0001t0023g0221	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0319 a0001c0001t0024g0320 a0001c0001t0001g0319 a0001c0001t0024g0320	2	340	0.0059	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0309 a0001c0003t0011g0309	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0308 a0001c0003t0011g0308	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTGTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18906.hp2 HG02735.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0216 a0001c0001t0003g0074 a0001c0001t0003g0216	2	340	0.0059	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAACAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp1 others(93): Show HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0096 a0001c0001t0002g0028 a0001c0001t0002g0029 others(92): Show a0001c0001t0001g0096 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0210 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0321 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0014g0079 a0001c0001t0015g0064 a0001c0001t0020g0094 a0001c0001t0021g0083 a0001c0001t0028g0035	96	340	0.2824	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02572.hp2 others(1): Show HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0189 a0001c0001t0007g0016 a0001c0001t0007g0124 others(1): Show a0001c0001t0005g0189 a0001c0001t0007g0016 a0001c0001t0007g0124 a0001c0001t0007g0212	4	340	0.0118	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(25): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp2 HG04184.hp2 NA18942.hp2 NA18944.hp2 NA18964.hp1 NA18972.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19074.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0025 a0001c0001t0002g0222 a0001c0001t0002g0223 others(25): Show a0001c0001t0002g0025 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0004t0002g0303	28	340	0.0824	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0102 a0001c0001t0010g0101 a0001c0001t0010g0102	2	340	0.0059	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(70): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01255.hp1 HG01978.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(70): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0301 a0001c0001t0003g0197 a0001c0001t0009g0020 a0001c0001t0009g0138 a0001c0001t0022g0154	73	340	0.2147	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(75): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18947.hp1 NA18949.hp1 NA18956.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19082.hp2 NA19084.hp2 NA19089.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(75): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0006g0104 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0012g0249 a0001c0001t0012g0252 a0001c0001t0017g0251 a0001c0001t0025g0287 a0001c0001t0027g0227 a0001c0002t0002g0299 a0001c0002t0002g0300	78	340	0.2294	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGTTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0291 a0001c0001t0026g0291	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGAACCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTAGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCTAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01496.hp1 others(36): Show HG01243.hp1 HG01261.hp2 HG01496.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0010 a0001c0001t0001g0121 a0001c0001t0001g0125 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0005g0021 a0001c0001t0005g0171 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0013g0334 a0001c0001t0018g0146 a0001c0001t0019g0185	39	340	0.1147	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGTC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02615.hp1 HG02922.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 others(1): Show a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339	4	340	0.0118	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGACCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	340	0.0029	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02486.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0326 a0001c0001t0005g0332 a0001c0001t0001g0326 a0001c0001t0005g0332	2	340	0.0059	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(606): Show AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATA TAAAATATTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTTA TTATTTTAATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	402	0.0025	613	c.80- others(628): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT ATTTATTTTATTTATTATTTTAATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(606): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATATCATATATATTCATATATATATCATATATAT TCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19060.hp1 HG02040.hp2 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0037 a0001c0007t0005 a0001c0005t0037 a0001c0007t0005	a0001c0005t0037g0081 a0001c0007t0005g0025 a0001c0005t0037g0081 a0001c0007t0005g0025	2	182	0.0110	613	c.267 others(630): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATCATATATATTCATATATATATCATATATATTC ATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(606): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATATATATTTA TAAATATATAAATATATATATATTTATAAATATATAAATATATATAAAAA TATATATAAATATATAAAAAATATAAATATATATAAATATATAAATATAT GTAAATATATATAAATATATATATAAATATATATATAAATATATATATAA ATATATATATAAATATATATATATAAATATATATAAATATATAACTATAT AAATAAATATATATAAATATATAAATATATAAAAATATATATAAATATAT ATGTAAATATATAAATATATATAAATATATATAAATATATATAAGTATAT AAATATATATAAATATATATAAGTATATAAATATATATATAAATATATAT AAGTATATAAATATATATATAAATATATATAAGTATATAAATATATATAA ATATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAA ATATATATAAATATATATAAGTATATATAAATATATAAAAATATATATAA GTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	264	0.0038	613	c.181 others(632): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATTTATATATATTTACATATATATTTAGAATTACATATTTATA TATATATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(606): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGGGGAGGGGAGGGGAGGGGGA GAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGA GGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	613	c.416 others(634): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar

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Search Results (Total: 10000 hits)