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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⚠️ 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
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(403): Show TATATATATGGAATATATATATACGGAATGTATATATAATATATATACGG AATATATATATACGGAATGTATATATAATATATATACGGAATATATATAT ACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGTAT ATATACGGAATATATATACGGAATGTATATATGGAACATATATACGGAAT ATATATATATGGAACATATATATGTGGAACATATATATGTGGAACATATA TATGTGGAACATATATATGTGGAACATATATATGGAAAATATATACGTGG AATATATATATGGAAAATATATACGTGGAATATATATATGGAAAATATAT ACGTGGAATATATATATGGAAAATATATACGTGGAATATATATATGGAAA ATATACGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0131 a0003c0003t0017g0131	1	323	0.0031	410	c.-21 others(421): Show c.-2144_-2143insATATATATGGAATATATATATACGGAATGTATAT ATAATATATATACGGAATATATATATACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACGGAATATAT ATATACGGAATGTATATATACGGAATATATATACGGAATGTATATATGGA ACATATATACGGAATATATATATATGGAACATATATATGTGGAACATATA TATGTGGAACATATATATGTGGAACATATATATGTGGAACATATATATGG AAAATATATACGTGGAATATATATATGGAAAATATATACGTGGAATATAT ATATGGAAAATATATACGTGGAATATATATATGGAAAATATATACGTGGA ATATATATATGGAAAATATACGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323559	A A	AATATATA others(403): Show AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGA ATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAA TATATATATATGGAATATATATGTGGAATATATATATATGGAATATATAT GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATGTGGAATATATATATATGGAATATATGTGGAATATATATATGGAAT ATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0126 a0001c0001t0041g0126	1	323	0.0031	410	c.-14 others(421): Show c.-1497_-1496insATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA ATATATATATATGGAATATATATGTGGAATATATATATGGAATATATATG TGGAATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATAT ATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATGTGGAATATATATATATGGAATATATGTGGA ATATATATATGGAATATATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1410		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(403): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGTCCGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	204	0.0049	410	c.117 others(429): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGTCCGTGTTCGTGGATTGGAAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775111	G G	GGAGGGGC others(403): Show GGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0035 a0001c0005t0019g0035	1	204	0.0049	410	c.978 others(427): Show c.978-2547_978-2546insAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGA GGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(403): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTC CCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp2 HG03041.hp1 others(2): Show HG01167.hp2 HG02572.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0005c0013 a0003c0005 a0005c0013	a0003c0005t0002 a0003c0005t0009 a0005c0013t0001 a0003c0005t0002 a0003c0005t0009 a0005c0013t0001	a0003c0005t0002g0252 a0003c0005t0009g0009 a0003c0005t0009g0055 others(2): Show a0003c0005t0002g0252 a0003c0005t0009g0009 a0003c0005t0009g0055 a0005c0013t0001g0250 a0005c0013t0001g0251	5	282	0.0177	410	c.258 others(427): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(403): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTC CCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0064 a0002c0001t0009g0192 a0002c0001t0009g0064 a0002c0001t0009g0192	2	282	0.0071	410	c.258 others(427): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(403): Show TCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCTCTCTCTCCCCCTCTCTG TCCCCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCCTCCCCCATCCCCCTC CCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCT CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCT CCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC CCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0023 a0003c0021t0001g0023	1	158	0.0063	410	c.11 others(431): Show c.1103+4125_*1103+4126insCCCCTCCCCTCCCCCTCTCTCTCC CCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTC TCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCCTCTCTCTCCCCCTCTCTGTCCCCTCCCCTCCCCCTCTCCCCTCC CCCTCCCCCTCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCC CCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(403): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATTATATATAAAATATATAATATATATAAAATATATACTATATAT AAAATATATAATATATATAAAATATATACTATATATAAAATATATAATAT ATATAAAATATATACTATATATAAAATATATATTATATATAAAATATATA CTATATATAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	260	0.0039	410	c.963 others(429): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATTATATATAAAATATATAATATATAT AAAATATATACTATATATAAAATATATAATATATATAAAATATATACTAT ATATAAAATATATAATATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(403): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATATATA AATATATATTTTTATATATATTTATGTATATATTTATATATAAATATATA TTTATATATTTATATATATTTATATATATACATAAATATATATTTATATA TATTTATATATATACATAAATATATATTTATATATAAATATATATTTATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	136	0.0074	410	c.639 others(427): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATAAATATATATTTAT ATATAAATATATATTTATGTATATATATAAATATATATAAATATATATTT ATGTATATATATAAATATATATAAATATATAAATATATATTTATATATAA ATATATACATAAATATATATAAAAATATATATTTATATATAAATATATAT AAAAATATATATTTATATATAAATATATATAAAAATATATATTTATATAT AAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(403): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0037 a0001c0007t0007g0037	1	270	0.0037	410	c.178 others(427): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229004	A A	ACACCACC others(403): Show ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGAT CCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCA CCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCAC CACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACA CTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGA AAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCT CTCCACCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0285 a0001c0002t0005g0285	1	398	0.0025	410	c.64+ others(427): Show c.64+11635_64+11636insGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGG GATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGT TTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTG GGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGTTTGGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(403): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGCCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	296	0.0034	410	c.368 others(427): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGGCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(403): Show TATATAATATATAATATATAATATATATTTATTAATAATATATATAATAT ATATATTTATTTATATATATATTATTATATGTATATAAATATATATATTT ATTAATATATATAAATATATATATTTATTAATAATATATATAATATATAT ATAATATATAATATATAATATATAATATATATTTATATATAATATATAAT ATATAATATATAATATATATTTATATATAATATATAATATATAATATATA ATATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	316	0.0032	410	c.622 others(425): Show c.622-755_622-754insATATAATATATAATATATAATATATATTTA TTAATAATATATATAATATATATATTTATTTATATATATATTATTATATG TATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAA TAATATATATAATATATATATAATATATAATATATAATATATAATATATA TTTATATATAATATATAATATATAATATATAATATATATTTATATATAAT ATATAATATATAATATATAATATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(403): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATATTTATATATAATATATAATATATAATATATAATATATATTATATA TAATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	316	0.0032	410	c.622 others(425): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATAATATATATTATATATAATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(403): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATATTTATATATAATATATAATATATAATATATAAT ATATATTTATATATAATATATAATATATAATATATATTATATATTATATA TAATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp2 NA20805.hp1 HG01074.hp1 HG02602.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221	3	316	0.0095	410	c.622 others(425): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATATTTATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATATTATATATTATATATAATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(403): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATTAATATATAATTATATATAATATATAATTATATATTATA TAATAATATATAATTATATATTATATATAATTATATATTATATAATAACA TATAATTATATATAATATATAAATATATAATATATAAATATATAATATAT AAATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp2 HG00558.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	316	0.0063	410	c.622 others(425): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATTAATATATAATTATATATAATATATAATTATATATTATAT AATAATATATAATTATATATTATATATAATTATATATTATATAATAACAT ATAATTATATATAATATATAAATATATAATATATAAATATATAATATATA AATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCGCTGCC others(403): Show CCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCC TCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGT CCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCC ACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCAC CACCACGTCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	264	0.0038	410	c.180 others(429): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGG GCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGA CGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCGCTGCC others(403): Show CCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTC CCCTCGCCCCGTCCCCGCTGCCACGTCCCCCTCGCCCCGTCCCCGCTGCC ACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCAC CACCACGTCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	264	0.0038	410	c.180 others(429): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGG GCGAGGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGG ACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAP3K13_chr3_185358136_185494094	185454242	G G	GATATATA others(403): Show GATATATATATGATACATATATATGAGATATATATATGATACATATATAT GAGATATATATATGATACATATATATGAGATATATATATGATACATATAT ATGAGATATATATATGATACATATATATGAGATATATATATGATACATAT ATATGAGATATATATATGATACATATATATGAGATATATATATGATACAT ATATATGAGATATATATATGATACATATATATGAGATATATATATGATAC ATATATATGAGATATATATATGATACATATATGAGATATATATATGATAC ATATATATGAGATATATATATGATACATATATATGAGATATATATATGAT ACATATATATGAGATATATATGATACATATATGAGATATATATGATACAT ATATATGAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0059 a0001c0016t0059	a0001c0016t0059g0052 a0001c0016t0059g0052	1	278	0.0036	410	c.127 others(429): Show c.1278+2855_1278+2856insATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATATATGATACATATATATGAGATATAT ATATGATACATATATATGAGATATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATATGATACATATATATGAGAT ATATATATGATACATATATATGAGATATATATATGATACATATATATGAG ATATATATATGATACATATATATGAGATATATATATGATACATATATGAG ATATATATATGATACATATATATGAGATATATATATGATACATATATATG AGATATATATATGATACATATATATGAGATATATATGATACATATATGAG ATATATATGATACATATATATGAGATATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163894652	C C	CATATATA others(403): Show CATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATA TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATA TATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCAT CACATGCATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	102	0.0098	410	c.-38 others(429): Show c.-38-40484_-38-40483insATATGCATGTGATGCATATATATATA TGCATCACATGCATATATATATATGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATGCATCACAT GCATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATGCATCACATGCATATATATATATGCATCACA TGCATATATATATATGCATCACATGCATATATATATATGCATCACATGCA TATATATATATGCATCACATGCATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061743	A A	ATTATAAT others(403): Show ATTATAATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATATAATTTATATATAATA TAATTATATAATATATAATTTATATATAATATAATTATATAATATATAAT TTATATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03195.hp1 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	288	0.0069	410	c.-31 others(421): Show c.-3139_-3138insATATAAATTATATATTATATAATTATATTATATA TAAATTATATATTATATAATTATATTATATATAAATTATATATTATATAA TTATATTATATATAAATTATATATTATATAATTATATTATATATAAATTA TATATTATATAATTATATTATATATAAATTATATATTATATAATTATATT ATATATAAATTATATATTATATAATTATATTATATATAAATTATATATTA TATAATTATATTATATATAAATTATATATTATATAATTATATTATATATA AATTATATATTATATAATTATATTATATATAAATTATATATTATATAATT ATATTATATATAAATTATATATTATATAATTATATTATATATAAATTATA TATTATATAATTATATTATATTATAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3068		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(403): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	191	0.0052	410	c.343 others(427): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735539	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	390	0.0026	410	c.112 others(427): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02486.hp1 HG02602.hp2 others(4): Show HG01081.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp2 HG03239.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0008 a0001c0001t0001g0073	7	390	0.0180	410	c.112 others(427): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	390	0.0026	410	c.112 others(427): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735539	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	364	0.0028	410	c.18 others(421): Show c.1858_*1859insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1763		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02486.hp2 HG02602.hp2 others(4): Show HG01081.hp2 HG02486.hp2 HG02602.hp2 HG02818.hp1 HG02886.hp2 HG03239.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032	7	364	0.0192	410	c.18 others(421): Show c.1857_*1858insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1762		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	364	0.0028	410	c.18 others(421): Show c.1857_*1858insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1762		chr1	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(403): Show TGTATATATATATGTATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	410	0.0024	410	c.484 others(425): Show c.484-693_484-692insGTATATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATATACATATATATATACATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(403): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCATATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATTATATATATAAAA TCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0002 a0006c0008t0001 a0006c0008t0002	a0006c0008t0001g0013 a0006c0008t0002g0014 a0006c0008t0001g0013 a0006c0008t0002g0014	2	330	0.0061	410	c.-5+ others(425): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATATGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAAATATATATAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(403): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATTATATATATAAAA TCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02155.hp1 HG01256.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0001g0009 a0001c0001t0002g0011	2	330	0.0061	410	c.-5+ others(425): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAAATATATATAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(403): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0001 a0019c0022t0001	a0019c0022t0001g0080 a0019c0022t0001g0080	1	364	0.0028	410	c.394 others(425): Show c.394-735_394-734insGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATAT	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(403): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTGTATATATATAAATATATATATTTATATAGA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18957.hp2 HG02129.hp2 NA18957.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0061 a0005c0005t0002g0066 a0005c0005t0002g0061 a0005c0005t0002g0066	2	326	0.0061	410	c.358 others(427): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATAGAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVP_chr16_29815462_29853021	29843566	G G	GAGGGAGG others(403): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTG AAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGA AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAA GGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGA GGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	230	0.0044	410	c.163 others(427): Show c.1635-916_1635-915insAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGG GAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGG AGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1C_chr17_1459186_1497686	1482669	C C	CCCCTCCC others(403): Show CCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCC CTCCCGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCCTCCCGCACTGG GCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTG CCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCC TCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGC TTCTCTCCCTGCCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGC CCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCC TCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCCGCACTGGGC TTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG03579.hp1 HG02886.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0003t0007 a0001c0006t0011 a0001c0003t0004 a0001c0003t0007 a0001c0006t0011	a0001c0003t0004g0387 a0001c0003t0007g0262 a0001c0006t0011g0346 a0001c0003t0004g0387 a0001c0003t0007g0262 a0001c0006t0011g0346	3	430	0.0070	410	c.547 others(425): Show c.547-112_547-111insCAGGGAGAGAAGCCCAGTGCGGGAGGGGAG GGGAGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGT GCAGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAG GGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTG CAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGG GAGGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAG AGAAGCCCAGTGCAGGAGGGGAGGGGAGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
MYT1_chr20_64159452_64247253	64178485	A A	AGTGGGAT others(403): Show AGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATA CCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64178485	A A	AGTGGGAT others(403): Show AGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATA CCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	223	0.0045	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64178530	G G	GGATACCC others(403): Show GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGAT ACCCTTCAACGTGGCAGCACTGAGCCGTTATTCGGTGAGATACCCTTCAA CGTGGGAGCACTGAGCCGTTATTCGGTGGGATGCCCTTCAACGTGGGAGC ACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCG TTATTCGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp1 HG00597.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0173 a0001c0004t0004g0213 a0001c0001t0001g0173 a0001c0004t0004g0213	2	223	0.0090	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGT TATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCT TCAACGTGGCAGCACTGAGCCGTTATTCGGTGAGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATGCCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGAGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(403): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAA GTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTG CAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGG TGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCC ACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCA CCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACT GTTCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02074.hp2 NA19088.hp2 HG02056.hp2 HG02074.hp2 NA19088.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0019 a0003c0004t0006g0111 a0003c0004t0006g0019 a0003c0004t0006g0111	3	457	0.0066	410	c.34 others(421): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAA ACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACAT CTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCACT TCTAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58171217	A A	AGGACAGA others(403): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGA CAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACT GCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGC CTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACC CCAGCCCAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	118	0.0085	410	c.122 others(427): Show c.122+5396_122+5397insAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCC CAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGAC AGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTG CTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCC TCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCC CAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAG GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(403): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCAGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0315 a0001c0001t0147g0315	1	366	0.0027	410	c.47 others(419): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCAGTCTGTCC CATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCA TTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCAT CCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCC CCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(403): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(9): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0148 a0001c0001t0149 a0001c0001t0004 a0001c0001t0148 a0001c0001t0149	a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0021 others(9): Show a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0057 a0001c0001t0004g0104 a0001c0001t0004g0140 a0001c0001t0004g0235 a0001c0001t0004g0311 a0001c0001t0148g0020 a0001c0001t0149g0339	12	366	0.0328	410	c.47 others(419): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCC CATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCA TTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCAT CCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCC CCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(403): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATA CAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	362	0.0028	410	c.-75 others(429): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATA CACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACATACAGTATACATACATACAGTATACATGCTGTACACAGT ATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGCCTAGC others(403): Show TGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	410	c.26 others(421): Show c.2689_*2690insGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NKD2_chr5_1003802_1043943	1024962	T T	TCTGTGGG others(403): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	319	0.0031	410	c.142 others(427): Show c.142-7108_142-6699dupTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(403): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATATATATATTTATGTA TGTGCATACATAAATATATTTATGTATGTGCATACATATATATTTATGTA TGTGCATACATATATATATATTTATGTATGTGCATAAATATATATATATA TTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATA TATATATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAAATATATATATATATTTATG TATGTGCATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	44	0.0227	410	c.707 others(431): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATAAATATATTTATGTA TGTGCATACATATATATTTATGTATGTGCATACATATATATATATTTATG TATGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATATA TATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATA TATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTG CATAAATATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(403): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp1 HG01943.hp2 HG00639.hp1 HG01928.hp1 HG01943.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0160 a0002c0010t0002g0161 a0002c0010t0002g0162 a0002c0010t0002g0160 a0002c0010t0002g0161 a0002c0010t0002g0162	3	324	0.0093	410	c.140 others(427): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(403): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0194 a0001c0001t0032g0194	1	324	0.0031	410	c.140 others(427): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535562	G G	GGTGGGTG others(403): Show GGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0290 a0001c0001t0007g0290	1	324	0.0031	410	c.140 others(427): Show c.140+8461_140+8462insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(403): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0076 a0001c0002t0005g0076	1	324	0.0031	410	c.140 others(427): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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