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
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(517): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATAATATATTATATATAATTATATAAAT ATATAATATATTACATATAATTATATATTATATATTATATATAATATATA ATTATATGTAATATATTATATATATTATATATTATATATATTATATATAT AATATATTTTATATATTAAATTATATATAATATATATTATATATATAATT TATATATATAAAATATATTATATATTATATAAATATATATATTTTATATA TATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATAA TATATAATTATATATAATTATATATTATATAATATATATTTCTATATTAT ATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATAC TATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTAC ATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0063 a0002c0003t0005g0063	1	220	0.0046	524	c.551 others(543): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATATAATATATATTATATATAATTTAATATATAAAATATATTA TATATATAATATATATAATATATAATATATATAATATATTACATATAATT ATATATTATATATAATATATAATATATAATTATATGTAATATATTATATA TTTATATAATTATATATAATATATTATATATTTATATAATATATATAATA TATAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
ERICH1_chr8_659200_736224	676035	T T	TGAGGACA others(517): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC GAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0304 a0001c0003t0002g0304	1	378	0.0027	524	c.305 others(541): Show c.305-1989_305-1988insGCCGAGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGT CCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTC TCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCG CGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAGGGG CCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCC GAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCC TCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCT CTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCC GCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGG CCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXD3_chr9_137301896_137428162	137350365	G G	GGGGCTAG others(517): Show GGGGCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGA GGGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGTGGGGATCACGA GGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGCTAGATA GAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGAT CACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCT AGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTG GGGATCACGAGGAGGGGGAGAGATAGAGAGGGGTGGGGATCACGGGGAGG GGGAGAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGAGAGATAGAGAG GGGTGGGGATCACGGGGAGGGGGCGAGATAGAGAGGGGTGGGGATCACGG GGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTGCTAGATA GAGAGGGGTGGGGATTACGGGGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0029 a0005c0018t0001g0029	1	82	0.0122	524	c.149 others(541): Show c.1494+672_1494+673insTCTCCCCGTAATCCCCACCCCTCTCTAT CTAGCACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCG TGATCCCCACCCCTCTCTATCTCGCCCCCTCCCCGTGATCCCCACCCCTC TCTATCTCTCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCT CCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCTCCTCGTGATCCCCAC CCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGA ACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATC CCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTAT CTAGCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCTCG TGATCCCCACCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCCCTCT CTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
F7_chr13_113100791_113125685	113101137	C C	CATCCCAG others(517): Show CATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACA AAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAG GCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTG GCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCA GCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAG CCGGGCGCGGTGGCTCACGCCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0242 a0001c0001t0016g0242	1	400	0.0025	524	c.-47 others(535): Show c.-4705_-4704insATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATC CCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAAT TAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCG AGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTC ACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTA AAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTA	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		4653		chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC CTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTCATTT ATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18991.hp2 HG04115.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0071 a0001c0002t0004g0070 a0001c0002t0002g0071 a0001c0002t0004g0070	2	328	0.0061	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0095 a0001c0002t0004g0095	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGT GGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0184 a0001c0001t0011g0184	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGT GGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(517): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0091	1	328	0.0031	524	c.283 others(541): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATCCATCCATGCATGCATGCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
IFNAR1_chr21_33319970_33364864	33322704	A A	ATGGAATA others(517): Show ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATACATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	323	0.0031	524	c.-23 others(535): Show c.-2352_-2351insTGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATATACATGGAATATATACATGGAATATATATATGGAAT GTTTATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2265		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(517): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0213 a0002c0009t0002g0213	1	282	0.0036	524	c.623 others(541): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(517): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCAGCCACCC CCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCC ACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0217 a0001c0005t0001g0231 a0001c0005t0001g0217 a0001c0005t0001g0231	2	312	0.0064	524	c.-41 others(539): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(517): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCC CACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC GCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	312	0.0032	524	c.-41 others(539): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTC CCACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1958_chr9_112481827_112674397	112625787	T T	TGGAGTTT others(517): Show TGGAGTTTGATAGGAAAATCTGTAAATGTAATTGTTCTTTGATTCTAACA AACATCTCTCAGCCTACCCAATTTATATTTAGTTTTCAGTTATGGAGGGG AAACTACAGTCTTCAAGAATATCAATTCTAGTTATAGATTATGAACAAAA ATACATTTTTGTTTAATTTGATATTCACTTGGATGTCGAGCTACATAGCA TCTATACTACTGGTTCTGAATGCAACCCACAGTATTTTTTAGTCTGGCAA GTTTTACAAATCGTATTTAAAGTTTTGGGACATATCCTCAGTCAAAAGGA TCAAATTTCTATCAACATAATTAGGAAGTTTCTGAAGTAAATTTATTTAG AGATAGTAAAGGGGAAAAATGGTAACTAAGGAAAGAGGCCTACAGTAAGT AGATGTAGAAATTCAAACTTACTTAAATGCAAATTATTTGTATTTCTCAT CTTGCTTACTCTTCTGAAAAGGAACTCAAGCATAAATATTTAAACGTTTC ACAAATTTTTATTTTACAAATCATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	308	0.0033	524	c.117 others(545): Show c.1172-19680_1172-19679insGTCGAGCTACATAGCATCTATACT ACTGGTTCTGAATGCAACCCACAGTATTTTTTAGTCTGGCAAGTTTTACA AATCGTATTTAAAGTTTTGGGACATATCCTCAGTCAAAAGGATCAAATTT CTATCAACATAATTAGGAAGTTTCTGAAGTAAATTTATTTAGAGATAGTA AAGGGGAAAAATGGTAACTAAGGAAAGAGGCCTACAGTAAGTAGATGTAG AAATTCAAACTTACTTAAATGCAAATTATTTGTATTTCTCATCTTGCTTA CTCTTCTGAAAAGGAACTCAAGCATAAATATTTAAACGTTTCACAAATTT TTATTTTACAAATCATAGGAGTTTGATAGGAAAATCTGTAAATGTAATTG TTCTTTGATTCTAACAAACATCTCTCAGCCTACCCAATTTATATTTAGTT TTCAGTTATGGAGGGGAAACTACAGTCTTCAAGAATATCAATTCTAGTTA TAGATTATGAACAAAAATACATTTTTGTTTAATTTGATATTCACTTGGAT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF1A_chr2_240708767_240825219	240780834	A A	ACACACAC others(517): Show ACACACACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACAGCTCCACACACACACACACACAGCTCCACACACACACACACAGCTCC ACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAG CTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACAC ACACACACAGCTCCACACACACACACACACAGCTGCACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACAC ACACAGCTCCACACACACACACAGCTACACACACACACACACACAGCTCC ACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACCT CCACACACACACCTCCACACACACACACACACACAGCTCCACACACAGCT CCACACACACACACAGCTCCACACACACACACCTCCACACACACACACAG CTCCACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	330	0.0030	524	c.882 others(541): Show c.882+1755_882+1756insGAGCTGTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGGAGGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGGTGTGTGTGTGGAGG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGTGTAGCTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGCAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(517): Show ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	1	242	0.0041	524	c.174 others(543): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATTTATTTATTTATATATATTTATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LHPP_chr10_124456823_124619141	124610929	A A	AGGGTGAG others(517): Show AGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGAGGTGAGGGTGCTGATGGAGCGGGTGAGGG TGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCG AGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGAC GGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGC TGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	260	0.0039	524	c.717 others(541): Show c.717-2318_717-2317insAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGG GTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGAGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGCGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGT TGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGG GTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGA GCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC24_chr8_144517388_144532033	144531242	C C	CAGGGCAG others(517): Show CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	524	c.-43 others(535): Show c.-4343_-4342insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTG CCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4210		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(517): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACACTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	290	0.0035	524	c.129 others(543): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867093	T T	TGTGTGGG others(517): Show TGTGTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGT GTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTGTTG GGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGT GTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGT TGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTG TGTTGGGGGGGTGGGGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTT GGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGT GTGTGGGGGGGTGTGTGTGTTGGGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	408	0.0025	524	c.130 others(541): Show c.1309-260_1309-259insTGGGGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGT GGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGA GTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGG GTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGT TGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTG GGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTG TGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGGTAGTGTG TGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGT GTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTG GGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(14): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG03098.hp1 HG03927.hp1 HG04204.hp2 NA18939.hp1 NA18980.hp1 NA19000.hp1 NA19085.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0017 a0001c0018 others(2): Show a0001c0001 a0001c0017 a0001c0018 a0004c0006 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 a0001c0018t0002 a0004c0006t0001 a0011c0013t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0002g0034 a0001c0001t0002g0088 a0001c0017t0001g0029 a0001c0018t0002g0047 a0004c0006t0001g0074 a0011c0013t0001g0076	17	246	0.0691	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0051 a0051	a0051c0045 a0051c0045	a0051c0045t0012 a0051c0045t0012	a0051c0045t0012g0022 a0051c0045t0012g0022	1	246	0.0041	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	246	0.0041	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00642.hp2 HG00735.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0110 a0003c0002t0001g0111 a0003c0002t0001g0110 a0003c0002t0001g0111	2	246	0.0081	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTACGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0114 a0003c0002t0001g0114	1	246	0.0041	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTACGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00639.hp1 others(26): Show HG00280.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01361.hp2 HG01981.hp2 HG02004.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02683.hp1 HG02809.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp2 NA18939.hp2 NA18943.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp2 NA19011.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0010 a0018 a0019 a0045	a0002c0003 a0003c0002 a0003c0066 others(7): Show a0002c0003 a0003c0002 a0003c0066 a0003c0071 a0006c0005 a0010c0016 a0010c0064 a0018c0027 a0019c0028 a0045c0070	a0002c0003t0002 a0003c0002t0001 a0003c0066t0001 others(7): Show a0002c0003t0002 a0003c0002t0001 a0003c0066t0001 a0003c0071t0001 a0006c0005t0001 a0010c0016t0004 a0010c0064t0004 a0018c0027t0001 a0019c0028t0001 a0045c0070t0001	a0002c0003t0002g0127 a0003c0002t0001g0115 a0003c0002t0001g0118 others(26): Show a0002c0003t0002g0127 a0003c0002t0001g0115 a0003c0002t0001g0118 a0003c0002t0001g0119 a0003c0002t0001g0125 a0003c0002t0001g0126 a0003c0002t0001g0131 a0003c0002t0001g0134 a0003c0002t0001g0135 a0003c0002t0001g0143 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0153 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0066t0001g0117 a0003c0071t0001g0120 a0006c0005t0001g0242 a0010c0016t0004g0136 a0010c0016t0004g0145 a0010c0064t0004g0133 a0018c0027t0001g0157 a0018c0027t0001g0158 a0019c0028t0001g0130 a0019c0028t0001g0132 a0045c0070t0001g0144	29	246	0.1179	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG02040.hp2 others(13): Show HG01081.hp1 HG01167.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG03491.hp2 NA18953.hp2 NA18969.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA19002.hp2 NA19011.hp2 NA20805.hp2	a0002 a0016 a0027 others(4): Show a0002 a0016 a0027 a0031 a0034 a0035 a0038	a0002c0003 a0002c0015 a0016c0026 others(5): Show a0002c0003 a0002c0015 a0016c0026 a0027c0063 a0031c0059 a0034c0056 a0035c0055 a0038c0054	a0002c0003t0001 a0002c0003t0002 a0002c0015t0002 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0015t0002 a0016c0026t0001 a0027c0063t0002 a0031c0059t0002 a0034c0056t0001 a0035c0055t0002 a0038c0054t0002	a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0180 others(13): Show a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0180 a0002c0003t0002g0185 a0002c0003t0002g0188 a0002c0003t0002g0228 a0002c0003t0002g0230 a0002c0003t0002g0246 a0002c0015t0002g0172 a0002c0015t0002g0175 a0016c0026t0001g0173 a0027c0063t0002g0229 a0031c0059t0002g0177 a0034c0056t0001g0176 a0035c0055t0002g0179 a0038c0054t0002g0178	16	246	0.0650	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0146 a0003c0002t0001g0146	1	246	0.0041	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGTGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTACGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0142 a0003c0002t0001g0142	1	246	0.0041	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTACGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(517): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCTGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG03471.hp2 others(1): Show HG02109.hp1 HG03453.hp2 HG03471.hp2 NA20129.hp2	a0002 a0013 a0026 a0002 a0013 a0026	a0002c0025 a0013c0023 a0026c0049 a0002c0025 a0013c0023 a0026c0049	a0002c0025t0001 a0013c0023t0001 a0026c0049t0001 a0002c0025t0001 a0013c0023t0001 a0026c0049t0001	a0002c0025t0001g0001 a0013c0023t0001g0003 a0013c0023t0001g0004 others(1): Show a0002c0025t0001g0001 a0013c0023t0001g0003 a0013c0023t0001g0004 a0026c0049t0001g0002	4	246	0.0163	524	c.171 others(541): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MCF2L2_chr3_183173041_183433619	183314948	T T	TGAGACAG others(517): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTGTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02056.hp2 HG00741.hp1 HG02056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0015 a0001c0001t0001 a0003c0003t0015	a0001c0001t0001g0007 a0003c0003t0015g0080 a0001c0001t0001g0007 a0003c0003t0015g0080	2	176	0.0114	524	c.753 others(541): Show c.753+3119_753+3120insCAAAACAAACAAACAAACAAACAAACAA ACAAAAAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTG ATTACTGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTT GTAGCTTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTT CCTCTTTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGA AAAAAAGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCA CTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACC AGCCTGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAC CCGGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATC GTACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113101137	C C	CATCCCAG others(517): Show CATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACA AAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAG GCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTG GCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCA GCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAG CCGGGCGCGGTGGCTCACGCCTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0030 a0001c0006t0030	a0001c0006t0030g0096 a0001c0006t0030g0096	1	116	0.0086	524	c.42 others(535): Show c.4278_*4279insATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATC CCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAAT TAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCG AGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTC ACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTA AAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding		1396		chr13	TogoVar
MSR1_chr8_16102881_16197651	16189580	T T	TTTTATAT others(517): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATC TTATTTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTT ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATA TATTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATATTTTATATATATAAAATCTTTATATAT ATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTT ATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATAT ATATTTTATATATATAAAATCTTAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0006 a0010c0014t0006	a0010c0014t0006g0039 a0010c0014t0006g0039	1	330	0.0030	524	c.-5+ others(539): Show c.-5+3017_-5+3018insGTAAGATTTTATATATATAAAATATATATA AAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATAT ATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGA TTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATA TAAAGATTTTATATATATAAAATATATATAAAATATATATAAAATAAGAT TTTATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATAT AAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTTATATATA AAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAG ATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAAT ATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTT TATGTATATAAAATATATATAAAATAAGATTTTATATATATAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(517): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTTGGTT TTTTATATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATA TATATTTATATAAATATAAATATATAAATATATATAATTATATATATATT TAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02486.hp2 others(4): Show HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG03130.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0078 others(4): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091	7	312	0.0224	524	c.293 others(543): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATTTAGCTA TATTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGAC AAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATAT AACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGA CCTAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATAT ATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATA TAAATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCT GGTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	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(517): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0067 a0008c0008t0001g0067	1	364	0.0028	524	c.394 others(539): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(517): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAATTATATATATTTATATATAAGTATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATAGAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0183 a0003c0003t0001g0183	1	326	0.0031	524	c.358 others(541): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAATTATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(517): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATA TATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	326	0.0031	524	c.358 others(541): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTA TATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	2034396	A A	AACAATCT others(517): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACACTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0006 a0001c0007t0004g0006	1	104	0.0096	524	c.-15 others(545): Show c.-158+19581_-158+19582insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTC TTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTC TCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGC TCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGA GCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTA GGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGT TAGGAGCTCTCTTCTGCACCCGCATTGGAGTGTGGAGATTGTGGGGAGAA GTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGA GAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGG GGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2034493	C C	CTTCTCCC others(517): Show CTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCC TAACTTCTCCCCACAATCTCCACACTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAA GAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAAT GCGGGTGCAGAAGAGAGCTCCTAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	104	0.0096	524	c.-15 others(545): Show c.-158+19484_-158+19485insCTTAGGAGCTCTCTTCTGCACCCG CATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCAC CCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCTCTTCTGC ACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCTCT TCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCT CTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCT CTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGA GCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAG GAGCTCTCTTCTGCACCCGCATTGGAGTGTGGAGATTGTGGGGAGAAGTT AGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(517): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACAACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	378	0.0027	524	c.148 others(543): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGG ACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(517): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTA TACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATA CCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATAT ATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTAT ATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	362	0.0028	524	c.-75 others(543): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATA TACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGC AGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATGCTGTACACAGTAT ACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA GTATACATGCTGTACATATATACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(517): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACT GTATATATACACTATACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0178 a0001c0005t0009g0178	1	362	0.0028	524	c.-75 others(543): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTA TGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGC ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACATACAGTATACATACATACAGTATACATACATACAGTATAC ATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(517): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	155	0.0065	524	c.155 others(543): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(517): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG TCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGG AGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0033 a0001c0001t0007g0022 a0001c0001t0007g0033	2	155	0.0129	524	c.155 others(543): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTC CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(517): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19065.hp1 NA18980.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	439	0.0046	524	c.-16 others(535): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTA TAGAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(517): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAATATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	439	0.0023	524	c.-16 others(535): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAATATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PARD3_chr10_34104561_34820296	34682276	T T	TGAAAGAC others(517): Show TGAAAGACAGGGTACAGATTCTCTAATTCTCTCATTCCAGTGAATCTCTG ATTTTATACTGTGTGCCTTTATTTTATATTAAATAAGCACTTTCCTGAAT GGCAGTCAAATGCCATCAAACATCAAATGGTTATAGCTGTCAAATTTCTT GCAGCTTTCTGAATCTGATTTCAGAACATATCTTAGAAACCATATGACAA TTTATCTCATGTCTGAAGAGTCATTTCCCTTTGTGGTATTTCAAATTCAG CTGGTTATTTTTTTCTCAAAATTTAAATTTTATGTTACTCTCACTCAGAT GTTTAGACACAGGATAATTTGCAGAGTTCCCCTCCCACATTAGAGACTCT ATTTCTTAATTTAAATTGATCGGTATTTTCTTTGGCTGAGCACGGTGGCT CACAATTTATAATCCCAACACTTTGGGAGGCCGAGAGGGGTGGATCACTT GAGGTCAGGAGCCCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTC TACTAAAATACAAAAAAATTAGCCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp2 HG02723.hp2 others(4): Show HG00741.hp2 HG02451.hp2 HG02723.hp2 HG03139.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0004t0002	a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 others(4): Show a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0007g0031 a0001c0004t0002g0028	7	100	0.0700	524	c.222 others(543): Show c.222+14041_222+14042insCGGCTAATTTTTTTGTATTTTAGTAG AGATGGGGTTTCACCATGTTGGCCAGACTGGTCTTGGGCTCCTGACCTCA AGTGATCCACCCCTCTCGGCCTCCCAAAGTGTTGGGATTATAAATTGTGA GCCACCGTGCTCAGCCAAAGAAAATACCGATCAATTTAAATTAAGAAATA GAGTCTCTAATGTGGGAGGGGAACTCTGCAAATTATCCTGTGTCTAAACA TCTGAGTGAGAGTAACATAAAATTTAAATTTTGAGAAAAAAATAACCAGC TGAATTTGAAATACCACAAAGGGAAATGACTCTTCAGACATGAGATAAAT TGTCATATGGTTTCTAAGATATGTTCTGAAATCAGATTCAGAAAGCTGCA AGAAATTTGACAGCTATAACCATTTGATGTTTGATGGCATTTGACTGCCA TTCAGGAAAGTGCTTATTTAATATAAAATAAAGGCACACAGTATAAAATC AGAGATTCACTGGAATGAGAGAATTAGAGAATCTGTACCCTGTCTTTC	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(517): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGG GGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0076	1	115	0.0087	524	c.305 others(545): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAG GAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar

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Search Results (Total: 10000 hits)