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
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAGC others(505): Show AAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCG CAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGA ATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCC ATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGG CGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGTGGTGAGCCGAGATCGCTCCATGCCACTGCAC TCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	212	0.0047	512	c.363 others(529): Show c.3638-628_3638-627insAGCCAGGTGTGGTGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACAAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGC TAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGTGGTGAGCCGAGATC GCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAGC others(505): Show AAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCG CAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGA ATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCC ATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGG CGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCAC TCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG02738.hp2 HG00140.hp2 HG02738.hp1 HG02738.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0039 a0001c0001 a0015c0039	a0001c0001t0001 a0015c0039t0001 a0001c0001t0001 a0015c0039t0001	a0001c0001t0001g0067 a0001c0001t0001g0143 a0015c0039t0001g0190 a0001c0001t0001g0067 a0001c0001t0001g0143 a0015c0039t0001g0190	3	212	0.0142	512	c.363 others(529): Show c.3638-628_3638-627insAGCCAGGTGTGGTGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGC TAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATC GCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(505): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGTGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0006 a0001c0004 a0003c0006	a0001c0004t0001 a0003c0006t0001 a0001c0004t0001 a0003c0006t0001	a0001c0004t0001g0210 a0003c0006t0001g0031 a0001c0004t0001g0210 a0003c0006t0001g0031	2	212	0.0094	512	c.363 others(529): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGTGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(505): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01071.hp1 others(11): Show HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01256.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG03195.hp1 HG03195.hp2 NA18955.hp1 NA18959.hp2 NA18966.hp1	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0017	a0001c0002 a0001c0004 a0001c0009 others(7): Show a0001c0002 a0001c0004 a0001c0009 a0001c0027 a0001c0029 a0001c0030 a0003c0012 a0003c0014 a0012c0035 a0017c0022	a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0001c0027t0001 a0001c0029t0001 a0001c0030t0001 a0003c0012t0001 a0003c0014t0001 a0012c0035t0001 a0017c0022t0001	a0001c0002t0001g0009 a0001c0004t0001g0069 a0001c0004t0001g0153 others(11): Show a0001c0002t0001g0009 a0001c0004t0001g0069 a0001c0004t0001g0153 a0001c0009t0001g0042 a0001c0009t0001g0146 a0001c0027t0001g0095 a0001c0029t0001g0117 a0001c0030t0001g0010 a0003c0012t0001g0028 a0003c0012t0001g0029 a0003c0014t0001g0006 a0003c0014t0001g0025 a0012c0035t0001g0103 a0017c0022t0001g0020	14	212	0.0660	512	c.363 others(529): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(505): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	362	0.0028	512	c.391 others(527): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(505): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATATAATATAATTATATTATATATAATTATATAATATAATTA TATTATATATAATTATATTAAACATATTATATAATATATAATTATATTAT ATATTATATAATCTATAATTATATTATATATTATATAATATATAATTATA TTATATATTATATAATATATAATTATGTTATATATTATATAATATATAAT TATGTTATATATTATAATACATTTAATATAATTATATTATAGATTATAAT CTATAATATAATTATATTAATAGTATTATAATATATAATATATTATATAT AATTATATTATAACTTATTATATATAATTATATTATAGATCATAATCTAT AATATAATTATATATAATATGTTATAATATATAATTATATTCTATATATA ATTATATATAATATAATTATATTCTATATATAATATAATTATATATAATT ATATTCTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	512	c.-32 others(523): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AACATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATATATTATA TAATATGTTTAATATAATTATATATAATATAATTATATTATATAATTATA TATAATATAATTATATTATATATAATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(505): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATATAATATAATTATATTATATATAATTATATAATATAATTA TATTATATATAATTATATTAAACATATTATATAATCTATAATTATATTAT ATATTATATAATCTATAATTATATTATATATTATATAATATATAATTATA TTATATATTATATAATATATAATTATGTTATATATTATATAATATATAAT TATGTTATATATTATAATACATTTAATATAATTATATTATAGATTATAAT CTATAATATAATTATATTAATAGTATTATAATATATAATATATTATATAT AATTATATTATAACTTATTATATATAATTATATTATAGATCATAATCTAT AATATAATTATATATAATATGTTATAATATATAATTATATTCTATATATA ATTATATATAATATAATTATATTCTATATATAATATAATTATATATAATT ATATTCTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	512	c.-32 others(523): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AACATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATAGATTATA TAATATGTTTAATATAATTATATATAATATAATTATATTATATAATTATA TATAATATAATTATATTATATATAATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(505): Show TATATATATTCATATATATATTCATATATATATATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATATTCATATATAGATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATA TTCATATATATTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0027 a0001c0001t0002g0028	2	191	0.0105	512	c.343 others(529): Show c.343-4346_343-4345insGAATATATATGAATATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATCT ATATATGAATATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAATATATATATGAATCTATATATGA ATATATATATATGAATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(505): Show TATATATATTCATATATATAGATTCATATATATATTCATATATATATATT CATATATAGATTCATATATATATTCATATATAGATTCATATATATTCATA TATAGATTCATATATATTCATATATAGATTCATATATAGATTCATATATA TATTCATATATATTCATATATATATTCATATATAGATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19066.hp1 NA19006.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0174 a0001c0001t0001g0176	2	191	0.0105	512	c.343 others(529): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT CTATATATGAATATATATATGAATATATATGAATATATATATGAATCTAT ATATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATATGAATCTATATATGAATATATATATATGA ATATATATATGAATCTATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(505): Show TATATATATTCATATATATAGATTCATATATATATTCATATATATATATT CATATATAGATTCATATATATATTCATATATAGATTCATATATATTCATA TATAGATTCATATATATTCATATATAGATTCATATATATATTCATATATA GATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	191	0.0052	512	c.343 others(529): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATATGAATCTATATATGAATATATATATATGA ATATATATATGAATCTATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(505): Show TATATATATTCATATATATAGATTCATATATATATTCATATATATATATT CATATATAGATTCATATATATATTCATATATAGATTCATATATATTCATA TATAGATTCATATATATTCATATATAGATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	191	0.0052	512	c.343 others(529): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATATGAATCTATATATGAATATATATATATGA ATATATATATGAATCTATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTGAGACA others(505): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp2 HG02896.hp1 HG03471.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0006 a0001c0001t0002 a0008c0008t0006	a0001c0001t0002g0161 a0008c0008t0006g0016 a0001c0001t0002g0161 a0008c0008t0006g0016	2	176	0.0114	512	c.753 others(529): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAAAAACAAAC CAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATT GTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGC AAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATC CAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATAC TGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCA AGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACA CGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGG TGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT TGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACT CCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(505): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAG AGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGG AAGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02818.hp2 HG02738.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0223 a0001c0001t0004g0240 a0001c0001t0003g0223 a0001c0001t0004g0240	2	250	0.0080	512	c.225 others(529): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAG AAGGGGAGGAGAGAGAAAGGGAAGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500325	G G	GTGGTGGT others(505): Show GTGGTGGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGGTGTGGTGGTGGTGATGGGGGGTGGTGGGTGGGTGGTGGTGGTGGG ATGGTGGTGGTGATGGGGGTGGTGGTGGATGGTGGGTGGGGGTGGTGGTG ATGGTGATGGAGGTGGGTGATGGTGGTGATGGGGGTGGTGGTGGTGGTGA TGGGGGTGGAGGTGGGTGATGGTGGTGTGATGGTGATGGAGGGTGGTGGT GATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTTGGAGGTGGAG TGTGGAGTGGTGTGGTGGTGATGGTGATGGGAGGGGTGGCGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGCGTGGGTGGTGGTGGTGGTG GTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	250	0.0040	512	c.748 others(529): Show c.748+1983_748+1984insATGATGGTGGTGATGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGGTGTGGTGGTGGTGATGGGGGGTGGTGGGTGGG TGGTGGTGGTGGGATGGTGGTGGTGATGGGGGTGGTGGTGGATGGTGGGT GGGGGTGGTGGTGATGGTGATGGAGGTGGGTGATGGTGGTGATGGGGGTG GTGGTGGTGGTGATGGGGGTGGAGGTGGGTGATGGTGGTGTGATGGTGAT GGAGGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATG GTTGGAGGTGGAGTGTGGAGTGGTGTGGTGGTGATGGTGATGGGAGGGGT GGCGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGCGTGGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(505): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGG GGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGCGT GTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG GGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGC GTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGC GTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	388	0.0026	512	c.159 others(529): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGGGGG TGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGA GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGG CACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGTG TGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGAGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(505): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATAT ATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATA AATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGG TTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG03195.hp1 others(1): Show HG01884.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0086 a0001c0001t0002g0087 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092	4	312	0.0128	512	c.293 others(531): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATA TATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATATATAT TTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATATAAATA TATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTAT ATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(505): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATA TATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATAT ATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATA AATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGG TTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0139 a0001c0001t0013g0139	1	312	0.0032	512	c.293 others(531): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGA TTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGA TAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATT ATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTA GGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATATTTAGGTCT TCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATA TATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTAT ATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(505): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19060.hp1 HG00642.hp1 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0041 a0004c0004t0001g0053 a0004c0004t0001g0041 a0004c0004t0001g0053	2	364	0.0055	512	c.394 others(527): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(505): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp1 NA18944.hp2 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0037 a0004c0004t0001g0039 a0004c0004t0001g0037 a0004c0004t0001g0039	2	364	0.0055	512	c.394 others(527): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(505): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0027 a0004c0004t0011g0027	1	364	0.0028	512	c.394 others(527): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(505): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0034 a0004c0004t0001g0034	1	364	0.0028	512	c.394 others(527): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(505): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	364	0.0028	512	c.394 others(527): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUC4_chr3_195741771_195816929	195771114	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTG GGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0177 a0018c0011t0001g0178 a0018c0011t0001g0177 a0018c0011t0001g0178	2	249	0.0080	512	c.132 others(531): Show c.13242+537_13242+538insAACCACGAGACTGACCAGGAATACCC CAACCCAACCACGAGACTGACCAGGAATACCCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCACGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771122	G G	GGTATTCC others(505): Show GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCG GGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTT GGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGT CTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGG TATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCG TGGTTGGGTTGGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0010 a0017c0018t0010	a0017c0018t0010g0004 a0017c0018t0010g0004	1	249	0.0040	512	c.132 others(531): Show c.13242+529_13242+530insTCCAACCCAACCACGAGACTGACCAG GAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCAACC ACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAAT ACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCACGA GACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAAC CCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTG GTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTG GGTTGGAGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0182 a0182	a0182c0042 a0182c0042	a0182c0042t0001 a0182c0042t0001	a0182c0042t0001g0143 a0182c0042t0001g0143	1	249	0.0040	512	c.132 others(531): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACTCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCGGCCGCGAGACTGACCAGGAATACCCCAACCCAACCACGAGACTGACC AGGAATACCCCAACCCGGCCACGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTG GGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01981.hp2 others(1): Show HG01346.hp1 HG01496.hp2 HG01981.hp2 HG02293.hp2	a0120 a0121 a0122 others(1): Show a0120 a0121 a0122 a0123	a0120c0060 a0121c0057 a0122c0058 others(1): Show a0120c0060 a0121c0057 a0122c0058 a0123c0059	a0120c0060t0001 a0121c0057t0001 a0122c0058t0001 others(1): Show a0120c0060t0001 a0121c0057t0001 a0122c0058t0001 a0123c0059t0001	a0120c0060t0001g0092 a0121c0057t0001g0108 a0122c0058t0001g0142 others(1): Show a0120c0060t0001g0092 a0121c0057t0001g0108 a0122c0058t0001g0142 a0123c0059t0001g0115	4	249	0.0161	512	c.132 others(531): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCTG GGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG03831.hp2 others(2): Show HG00140.hp2 HG01106.hp1 HG03831.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0009 a0140 a0174 a0009 a0140 a0174	a0009c0006 a0140c0089 a0174c0116 a0009c0006 a0140c0089 a0174c0116	a0009c0006t0001 a0140c0089t0001 a0174c0116t0001 a0009c0006t0001 a0140c0089t0001 a0174c0116t0001	a0009c0006t0001g0101 a0009c0006t0001g0102 a0009c0006t0001g0133 others(2): Show a0009c0006t0001g0101 a0009c0006t0001g0102 a0009c0006t0001g0133 a0140c0089t0001g0071 a0174c0116t0001g0107	5	249	0.0201	512	c.132 others(531): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCAGCCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTG GGTTGGAGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00609.hp1 others(46): Show HG00099.hp1 HG00558.hp2 HG00609.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG03017.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 NA18950.hp1 NA18960.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20300.hp2	a0004 a0008 a0010 others(36): Show a0004 a0008 a0010 a0011 a0020 a0024 a0077 a0100 a0110 a0111 a0113 a0116 a0119 a0127 a0129 a0130 a0131 a0134 a0142 a0143 a0144 a0146 a0147 a0149 a0151 a0152 a0156 a0157 a0158 a0159 a0160 a0161 a0164 a0167 a0168 a0169 a0170 a0185 a0186	a0004c0004 a0004c0017 a0008c0086 others(40): Show a0004c0004 a0004c0017 a0008c0086 a0008c0087 a0008c0115 a0010c0005 a0011c0008 a0011c0028 a0020c0062 a0024c0012 a0077c0169 a0100c0120 a0110c0044 a0111c0045 a0113c0047 a0116c0056 a0119c0078 a0127c0127 a0129c0038 a0130c0125 a0131c0076 a0134c0105 a0142c0074 a0143c0090 a0144c0071 a0146c0072 a0147c0063 a0149c0069 a0151c0083 a0152c0094 a0156c0106 a0157c0107 a0158c0084 a0159c0077 a0160c0064 a0161c0066 a0164c0049 a0167c0054 a0168c0055 a0169c0053 a0170c0110 a0185c0029 a0186c0128	a0004c0004t0001 a0004c0017t0001 a0008c0086t0001 others(40): Show a0004c0004t0001 a0004c0017t0001 a0008c0086t0001 a0008c0087t0001 a0008c0115t0001 a0010c0005t0001 a0011c0008t0001 a0011c0028t0001 a0020c0062t0001 a0024c0012t0001 a0077c0169t0013 a0100c0120t0001 a0110c0044t0001 a0111c0045t0001 a0113c0047t0001 a0116c0056t0001 a0119c0078t0001 a0127c0127t0001 a0129c0038t0001 a0130c0125t0001 a0131c0076t0001 a0134c0105t0001 a0142c0074t0001 a0143c0090t0001 a0144c0071t0001 a0146c0072t0001 a0147c0063t0001 a0149c0069t0001 a0151c0083t0001 a0152c0094t0002 a0156c0106t0001 a0157c0107t0001 a0158c0084t0001 a0159c0077t0001 a0160c0064t0001 a0161c0066t0001 a0164c0049t0001 a0167c0054t0001 a0168c0055t0001 a0169c0053t0001 a0170c0110t0001 a0185c0029t0001 a0186c0128t0001	a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0017t0001g0104 others(46): Show a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0017t0001g0104 a0004c0017t0001g0105 a0008c0086t0001g0163 a0008c0087t0001g0127 a0008c0115t0001g0106 a0010c0005t0001g0063 a0010c0005t0001g0064 a0010c0005t0001g0066 a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0020c0062t0001g0147 a0024c0012t0001g0114 a0024c0012t0001g0156 a0077c0169t0013g0184 a0100c0120t0001g0091 a0110c0044t0001g0083 a0111c0045t0001g0187 a0113c0047t0001g0126 a0116c0056t0001g0131 a0119c0078t0001g0099 a0127c0127t0001g0158 a0129c0038t0001g0148 a0130c0125t0001g0065 a0131c0076t0001g0097 a0134c0105t0001g0139 a0142c0074t0001g0096 a0143c0090t0001g0164 a0144c0071t0001g0095 a0146c0072t0001g0171 a0147c0063t0001g0149 a0149c0069t0001g0162 a0151c0083t0001g0117 a0152c0094t0002g0123 a0156c0106t0001g0144 a0157c0107t0001g0145 a0158c0084t0001g0136 a0159c0077t0001g0098 a0160c0064t0001g0151 a0161c0066t0001g0153 a0164c0049t0001g0054 a0167c0054t0001g0110 a0168c0055t0001g0086 a0169c0053t0001g0132 a0170c0110t0001g0103 a0185c0029t0001g0155 a0186c0128t0001g0170	49	249	0.1968	512	c.132 others(531): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACTCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(505): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTG GGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18947.hp2 NA18954.hp1 others(5): Show HG00558.hp1 NA18947.hp2 NA18954.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA19007.hp2 NA19065.hp1	a0095 a0112 a0114 others(5): Show a0095 a0112 a0114 a0115 a0153 a0154 a0155 a0184	a0095c0025 a0112c0046 a0114c0052 others(5): Show a0095c0025 a0112c0046 a0114c0052 a0115c0051 a0153c0091 a0154c0092 a0155c0075 a0184c0126	a0095c0025t0001 a0112c0046t0001 a0114c0052t0001 others(5): Show a0095c0025t0001 a0112c0046t0001 a0114c0052t0001 a0115c0051t0001 a0153c0091t0001 a0154c0092t0016 a0155c0075t0001 a0184c0126t0001	a0095c0025t0001g0137 a0112c0046t0001g0175 a0114c0052t0001g0138 others(5): Show a0095c0025t0001g0137 a0112c0046t0001g0175 a0114c0052t0001g0138 a0115c0051t0001g0134 a0153c0091t0001g0053 a0154c0092t0016g0247 a0155c0075t0001g0159 a0184c0126t0001g0089	8	249	0.0321	512	c.132 others(531): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCA ACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(505): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGG TGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTG GTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0350 a0001c0001t0007g0350	1	384	0.0026	512	c.160 others(529): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(505): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGG TGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGG TGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTG GTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	384	0.0026	512	c.160 others(529): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCA CCACCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCGCCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACTACTGCCA CCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACC ACCATCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(505): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCCC TCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCTCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTT CCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCT CCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0130 a0001c0001t0011g0130	1	223	0.0045	512	c.289 others(529): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTTCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCC CCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTC CCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(505): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTG TCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTG TGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	512	c.26 others(523): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGC CTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(505): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAA TGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0026 a0001c0005t0008g0026	1	324	0.0031	512	c.140 others(529): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGAGG others(505): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGG GGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0014 a0008c0030t0014	a0008c0030t0014g0173 a0008c0030t0014g0173	1	324	0.0031	512	c.140 others(529): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCCGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(505): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAG AGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0255 a0001c0001t0016g0255	1	386	0.0026	512	c.92 others(523): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCTCCCG CCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTC CCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(505): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG GTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACT GTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	242	0.0041	512	c.360 others(531): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGA CTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCG TGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3_chr11_191761_205258	196521	A A	ACATGGGG others(505): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAC ATGGTGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	388	0.0026	512	c.-53 others(521): Show c.-534_-533insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGAGGAC CTGGTGAGGGGACATGGTGAGGGGAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		239		chr11	TogoVar
ODF3_chr11_191761_205258	196521	A A	ACATGGGG others(505): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAC ATGGTGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	388	0.0026	512	c.-53 others(521): Show c.-534_-533insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGAC CTGGTGAGGGGACATGGTGAGGGGAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		239		chr11	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(505): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTG TCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTG TGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0241 a0002c0001t0001g0241	1	408	0.0025	512	c.-10 others(529): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCC TGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
POLG_chr15_89311320_89339824	89325147	T T	TGAGTGAG others(505): Show TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	398	0.0025	512	c.194 others(529): Show c.1949+302_1949+303insTCTCACTCACTCTCTCACTCACTCACTC ACTCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCTCACTCTCTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(505): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCC TCCCTTCCTTCCCCTCCCCTCCTCCCCCTCCCTCCCCTCTGCTTCCTTCC CCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTTTTC TCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACAC TTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCT TTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCC TCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTT CCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTC CCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0133 a0001c0002t0133	a0001c0002t0133g0109 a0001c0002t0133g0109	1	218	0.0046	512	c.80+ others(529): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCCTCCCTTCCTTCCCCTCCCCTCCTCCCCCTCCCTCC CCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCC CTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCC TCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCC TCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCC TCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCC TTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCC CCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTT CCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831069	C C	CTTCCCTC others(505): Show CTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCACTTCCCTCCCTTCCCC TCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCTCCCCTTCCTTC CCCTCCCCTCCTCCCCACTCCCTCCCCTCTGCTTCCTTCCCCTCCCCTCC CTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCCTCCCCTTCCCTCC CTTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTTTTCTCCCTTCCCC TCCCATCCCCTACACTTCCCCTCCCCTCCCTTCCCTACACTTCCGTCCCC TCCCCTTCCCTACACTTCCCTTCCCTCCCTCCCCTCCCTTTCCCTCCTCT TCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCACCCT CCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCC CCCTCCCCTCCCTCCCTCCCTTTCCCTCCCCCTCCCCTCCCCTCCCTTCC CATCCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0129 a0002c0003t0129	a0002c0003t0129g0054 a0002c0003t0129g0054	1	218	0.0046	512	c.80+ others(529): Show c.80+30520_80+30521insTCCCTCCCTTTCCCTCCCCTCCTTCCCC TCCACTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCC TCCCTCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCACTCCCTCCCCTCT GCTTCCTTCCCCTCCCCTCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCC CTCCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCTCCCC TCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCCTCCCCTCCC TTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCT CCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCT CCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCC CCTCCCCTTCCCTCCCTTCCCCCTCCCCTCCCTCCCTCCCTTTCCCTCCC CCTCCCCTCCCCTCCCTTCCCATCCCCTTCCCTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBM33_chr7_155639661_155786480	155673687	T T	TACACGCA others(505): Show TACACGCATATACATACACACGTGTATATATACACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATACACA CGCATATACATACACACGTGTATATATACACACGCATATACATACACACG TGTATATATACACACGCATATACATACACACGTGTATATATACACACGCA TATACATACACACGTGTATATATACACACGCATATACATACACACGTGTA TATATACACACGCATATACATACACACGTGTATATATACACACGCATATA CATACACACGTGTATATATACACACGCATATACATACACACGTGTATATA TACACACGCATATACATACACACGTGTATATATACACACGCATATACATA CACACGTGTATATATACACACGCATATACATACACACGTGTATATATACA CACGCATATACATACACACGTGTATATATACACACGCATATACATACACA CGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0266 a0001c0003t0008g0266	1	306	0.0033	512	c.171 others(527): Show c.171+776_171+777insGCATATACATACACACGTGTATATATACAC ACGCATATACATACACACGTGTATATATATACACGCATATACATACACAC GTGTATATATACACACGCATATACATACACACGTGTATATATACACACGC ATATACATACACACGTGTATATATACACACGCATATACATACACACGTGT ATATATACACACGCATATACATACACACGTGTATATATACACACGCATAT ACATACACACGTGTATATATACACACGCATATACATACACACGTGTATAT ATACACACGCATATACATACACACGTGTATATATACACACGCATATACAT ACACACGTGTATATATACACACGCATATACATACACACGTGTATATATAC ACACGCATATACATACACACGTGTATATATACACACGCATATACATACAC ACGTGTATATATACACACGCATATACATACACACGTGTATATATACACAC GCATATACATACACACGTGTATATATACACAC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(505): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	426	0.0024	512	c.21 others(523): Show c.2177_*2178insATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGA TGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(505): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp1 HG03017.hp2 others(3): Show HG01934.hp2 HG02071.hp1 HG03017.hp2 HG04199.hp1 NA18952.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0024g0164	6	308	0.0195	512	c.-75 others(531): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(505): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 NA18971.hp2 HG00673.hp2 HG01106.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0204 a0001c0001t0001g0249 a0001c0001t0011g0170 a0001c0001t0001g0204 a0001c0001t0001g0249 a0001c0001t0011g0170	3	308	0.0097	512	c.-75 others(531): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(505): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01069.hp2 others(6): Show HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01243.hp2 HG02056.hp1 HG02080.hp1 HG03453.hp1 NA18970.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0001 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0010g0125 a0001c0001t0014g0211	9	308	0.0292	512	c.-75 others(531): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(505): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATAATATATTATATATAATATATATTATATATTATATATAATATATAA TAATATTATATATAATATATAATATATATAATATATATTATATATAATAT ATATTATATATTATATATAAATATATATATATATATTATATATAATATAT ATTATATGTTATATATAATATATAAATATATATATATATAATATATATTA TATATAATATATATTATATATTATATATATTATATATTATATATTATATA TAATATATATTATATATTATATATATTATATATTATATATTAATATATAT ATAAATATATTATATATAATATATAATATATAATATATATATTATATATA ATATATAAATATATATTATATATTATATATAATATATAATATATTATATA TATATTTAATATATATTTTATATATAAATAAATATTATATATATTTAATA TATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	188	0.0053	512	c.193 others(531): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATTTATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATTATATATTATATATTATATATAATATATTTATATATATATTAATA TATAATATATAATATATATAATATATAATATATATTATATATAATATATA ATATATAATATATATAATATATAATATATATTATATATAATATATATTAT ATATATATATATTTATATATTATATATAACATATAATATATATTATATAT AATATATATATATATATTTATATATAATATATAATATATATTATATATAA TATATATTATATATATTATATATTATATATAATATTATTATATATTATAT ATAATATATAATATATATTATATATAATATATTATATATTATATATAATA TATTATATATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SATL1_chrX_85087284_85248779	85088050	T T	TTATACAT others(505): Show TTATACATATATGTATAAATACGTATTAATACATATATGTATAAATACGT ATTAATACATATATGTATAAATACATACATATTTATACATATATGTATAC ATACATATTTATACATATATATGTATAAATACATACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACGTACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACATATACATATTTATACATAT ATGTATAAATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0142 a0002c0002t0001g0143	2	232	0.0086	512	c.43 others(523): Show c.4340_*4341insTGTATTTATACATATATGTATAAATATGTATATG TATTTATACATATATGTATAAATATGTATATGTATTTATACATATATGTA TAAATATGTACGTATTTATACATATATGTATAAATATGTACGTATTTATA CATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATA TGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATA TATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTA CGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTATGTA TTTATACATATATATGTATAAATATGTATGTATACATATATGTATAAATA TGTATGTATTTATACATATATGTATTAATACGTATTTATACATATATGTA TTAATACGTATTTATACATATATGTATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4233		chrX	TogoVar

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Search Results (Total: 10000 hits)