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
FMN2_chr1_240086883_240480187	240197755	G G	GTAGCGTA others(555): Show GTAGCGTAATCAAATAGCAGTATTAGCTAAGCAGTCACAATATGGAAGTG AAGTATTGGTGAGAGAGAAAAACTTGCAATAATCACTACCAAGATGAGAG ATTGAAGATATAAAAATTGATGAACTCTCCCAGTATATAGAGAGGGGATA GTAGGCTAAGTACAAAGTCTCTACTCCACCCCTCAGAAAATCCCAGGGAG GAAACAGAGAAAGAAATGAGGAGGAGCAGTGTAAAACTATAGAAGCCAGA AGAAAAGAGTTCTAAAGGGGAAGGAATGATTAATAGTCTCAGATTCTTTA TAAAGGACAGGGTTAAATCTATAGTATTTGGCAATAAGGAAACCACGAGC AGTGCCGAGAGTAATTCCATTAGAGTGGCAGGGCCAAAAGGCAGCTCTAC CACTCCAGGTAATAGTCCAAATCCACTCCATTTGATTTTCTCCAGGCTTT ATTCTTTAGGAAGATTTTTCTTTTTCTTTTCTTTTTTTTCTTTTTTGAAG ACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGG CTCACTGCAACCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0044 a0044	a0044c0088 a0044c0088	a0044c0088t0009 a0044c0088t0009	a0044c0088t0009g0094 a0044c0088t0009g0094	1	174	0.0058	562	c.198 others(581): Show c.1987-9044_1987-9043insTAGCGTAATCAAATAGCAGTATTAGC TAAGCAGTCACAATATGGAAGTGAAGTATTGGTGAGAGAGAAAAACTTGC AATAATCACTACCAAGATGAGAGATTGAAGATATAAAAATTGATGAACTC TCCCAGTATATAGAGAGGGGATAGTAGGCTAAGTACAAAGTCTCTACTCC ACCCCTCAGAAAATCCCAGGGAGGAAACAGAGAAAGAAATGAGGAGGAGC AGTGTAAAACTATAGAAGCCAGAAGAAAAGAGTTCTAAAGGGGAAGGAAT GATTAATAGTCTCAGATTCTTTATAAAGGACAGGGTTAAATCTATAGTAT TTGGCAATAAGGAAACCACGAGCAGTGCCGAGAGTAATTCCATTAGAGTG GCAGGGCCAAAAGGCAGCTCTACCACTCCAGGTAATAGTCCAAATCCACT CCATTTGATTTTCTCCAGGCTTTATTCTTTAGGAAGATTTTTCTTTTTCT TTTCTTTTTTTTCTTTTTTGAAGACGGAGTCTCACTCTGTTGCCCAGGCT GGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	4/17			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33323166	T T	TATATATA others(555): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATATGTATGGAATATATATATGGAATATATATGTATGGAATATACATA TGGAATATATATGTTTGGAATATATATATATGGAATATATATGTTTGGAA TATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGT ATGGAATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATATGGAATATATATATGGAATATATATATATGGAATATATATGGAAT ATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	323	0.0031	562	c.-18 others(573): Show c.-1890_-1889insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATG TATGGAATATACATATGGAATATATATGTTTGGAATATATATATATGGAA TATATATGTTTGGAATATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATATGGAATATATGTATATGGAATATATATATGGAATATATATATATG GAATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1803		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(555): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCC CCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCT GCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02293.hp2 HG03704.hp2 HG02132.hp1 HG02293.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0241 a0001c0001t0003g0127 a0001c0001t0003g0273 a0001c0001t0001g0241 a0001c0001t0003g0127 a0001c0001t0003g0273	3	312	0.0096	562	c.-41 others(577): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGC CCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGC TGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(555): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGCTGGGGGT GATGACGGTAGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGTGATGA CGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGATGGTGAGGGTGATGGTGGGGGTGGGGGTGGGGGTGATG ATGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGATGGTGAGGGTGATGGTGGGGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGGTGGGGGTGGGGGTGAGGGTGATGATG GTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGG GGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0067 a0067	a0067c0076 a0067c0076	a0067c0076t0001 a0067c0076t0001	a0067c0076t0001g0160 a0067c0076t0001g0160	1	186	0.0054	562	c.956 others(579): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCCCCACCATCACCCTCACCATCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCC CACCCCCACCATCACCCTCACCATCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCCA CCCCCATCATCACCGTCATCACCCCTACCGTCATCACCCCCAGCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCATCATCAC CCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(555): Show ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATAT TTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGTT ATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTT ATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATATATAT ATTTATATATATATATTTTTATATATATATTTATATATATATATTTTTAT ATATATATTTATATATATTTATATATATTTATATATATAAATATATATAT ATTTATATATATATTTATATATATAAATATATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATTTATATATTTATATATGTAT TTATATATATTTATATATGTATTTATATATATTTATATATAATTATATGT ATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0089 a0003c0003t0002g0089	1	260	0.0039	562	c.125 others(579): Show c.125+9673_125+9674insTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATATTTATATATATATATTTTTATATATATTTATAT ATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTAT GTATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTT ATATATAGTTATATATATATTTATATATATATATTTTTATATATATATTT ATATATATATATTTTTATATATATATTTATATATATTTATATATATTTAT ATATATAAATATATATATATTTATATATATATTTATATATATAAATATAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATTT ATATATTTATATATGTATTTATATATATTTATATATGTATTTATATATAT TTATATATAATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857683	A A	AGTGGTGT others(555): Show AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0011 a0003c0015t0001g0011	1	294	0.0034	562	c.153 others(581): Show c.1530-2978_1530-2977insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(555): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAG TGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGG TGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0005 a0003c0009t0001g0005	1	294	0.0034	562	c.153 others(581): Show c.1530-4282_1530-4281insACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTC CCCTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(555): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 homoSapiens_chm13v2.hp1 HG01081.hp1 HG01258.hp2 homoSapiens_chm13v2.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0007c0011 a0004c0007 a0007c0011	a0004c0007t0002 a0007c0011t0002 a0004c0007t0002 a0007c0011t0002	a0004c0007t0002g0240 a0007c0011t0002g0002 a0004c0007t0002g0240 a0007c0011t0002g0002	3	296	0.0101	562	c.368 others(579): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(555): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0094 a0003c0005t0002g0094	1	296	0.0034	562	c.368 others(579): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA18983.hp1 NA18997.hp1 HG01993.hp2 NA18983.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	398	0.0075	562	c.-42 others(573): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	562	c.-42 others(573): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTC CACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(555): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01070.hp2 HG00280.hp1 HG00741.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	398	0.0075	562	c.-42 others(573): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTC CACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC74A_chr14_76821408_76875304	76867095	T T	TGGGGGGG others(555): Show TGGGGGGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTT GGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGTGTGTGTGTGTTGGGG GTGGGGTGTGTGGTGGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGT GGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTT GGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAG TGTGTGTGGGGGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTG GGGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	408	0.0025	562	c.130 others(579): Show c.1309-255_1309-254insGGTGTGTTGGGGGGTGGGGTGTGTGTGT GGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGT GTGTGTGTGTTGGGGGTGGGGTGTGTGGTGGTGTGTGTGGGGGAGTGTGT GTGTTGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTG GGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGG ATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGG GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTG TGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGT GTGTGTGTGTGGTAGTGTGTGTGGGGGTGTGTGTTGGGGGGGTGGGGTGT GTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(555): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTATATATGTACATATATGTGTATATATGTATATATATGCAAACATATA TGTGTATATATGTGTATATATGCAAACATATATGTGTATATATGTATATA TGCAAACATATATGTACATACATATATACACACATATATATGTACATACA TATATACACACATATATATGTACATACATATATACACACATATATATGTA CATACATATATACACACATATATATGTACATACATATATACACACATATA TATGTACATACATATATACACACATATATATGTACATACATATATGCACA CATATATATGTACATACATATATGCACACATATATATGTGCATACATATA TGCACACATATATATGTACATACATATATGCACACATATATATGTACATA CATATATGCACACATATATATGTACATACATATATGCACACATATATATG TACATACATATATGCACACATATATATGTACATACATATATGCACACATA TATATGTACATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0028 a0002c0007t0028	a0002c0007t0028g0068 a0002c0007t0028g0068	1	116	0.0086	562	c.62+ others(581): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTATATATGTACATATATGTGTATATATGT ATATATATGCAAACATATATGTGTATATATGTGTATATATGCAAACATAT ATGTGTATATATGTATATATGCAAACATATATGTACATACATATATACAC ACATATATATGTACATACATATATACACACATATATATGTACATACATAT ATACACACATATATATGTACATACATATATACACACATATATATGTACAT ACATATATACACACATATATATGTACATACATATATACACACATATATAT GTACATACATATATGCACACATATATATGTACATACATATATGCACACAT ATATATGTGCATACATATATGCACACATATATATGTACATACATATATGC ACACATATATATGTACATACATATATGCACACATATATATGTACATACAT ATATGCACACATATATATGTACATACATATATGCACACATATATATGTAC ATACATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(555): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATAGATTCA TATATAGATTCATATATAGATTCATATATAGATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	191	0.0052	562	c.343 others(579): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATCTATATATGAATCTATATATGAATCTATATATGAATCTATATATGA ATCTATATATGAATATATATATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(555): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGATTTGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAG TGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGT GTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAG TGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0036 a0003c0003t0003g0036	1	360	0.0028	562	c.57+ others(579): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGATTTGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAG GGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGAT GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(555): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAG TGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGT GTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAG TGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0133 a0001c0001t0025g0133	1	360	0.0028	562	c.57+ others(579): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAG GGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGAT GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(555): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0247	1	360	0.0028	562	c.57+ others(579): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(555): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGT GTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGT GTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAG TGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0223 a0001c0001t0016g0223	1	360	0.0028	562	c.57+ others(579): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGG TGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGG GGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGAT GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TGATATAT others(555): Show TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTTTATATATATAAAATCTTACTTTATATATATTTTA TATATATATAAAATCTTACTTTATATATATTTTATATATATATAAAATCT TATTCTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAA ATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0088 a0001c0001t0018g0088	1	330	0.0030	562	c.-5+ others(577): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATATAGAATAAGATTTTATATATATAT AAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGT AAGATTTTATATATATAAAAAATATATATAAAGTAAGATTTCATATATAT AAAATATAAAGTAAGATTTTATATATATATAAAATATATATCAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATAAAAAATATATATC	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(555): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0176 a0002c0002t0002g0176	1	364	0.0028	562	c.394 others(577): Show c.394-653_394-652insGTTCATATATATACTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0031 a0004c0004t0001g0031	1	364	0.0028	562	c.394 others(577): Show c.394-662_394-661insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	364	0.0028	562	c.394 others(577): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTACAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	364	0.0028	562	c.394 others(577): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTACATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19009.hp2 HG04184.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0293 a0002c0002t0002g0182 a0002c0002t0002g0293	2	364	0.0055	562	c.394 others(577): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589033	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	364	0.0028	562	c.394 others(577): Show c.394-610_394-609insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(555): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0188 a0002c0023t0002g0188	1	364	0.0028	562	c.394 others(577): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(555): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	2	364	0.0055	562	c.394 others(577): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	364	0.0028	562	c.394 others(577): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	364	0.0028	562	c.394 others(577): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(555): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATGCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0300 a0002c0002t0002g0300	1	364	0.0028	562	c.394 others(577): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATG CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(555): Show CTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACTGTGTATATATACACA GTATGTATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGC ATGCAGTATGTATACTGTATATATACTGCATGCAGTATGTATACTGTATA TATACACTATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0104 a0001c0001t0001g0112	2	362	0.0055	562	c.-75 others(581): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATA TATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTAT TGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACA TACTGCATGCAGTATATATACAGTATACATACTGCATGCAGTATGTATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACAGTATACATACTGCATGCAGTATACATACTGTGTATATATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(555): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0025 a0001c0005t0008g0025	1	324	0.0031	562	c.140 others(579): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(555): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAG AGGGAGGGGAGGGGGAGAGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGA GAGAGGGAGAGGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0012 a0001c0005t0017g0012	1	386	0.0026	562	c.92 others(573): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCT CCCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCC TCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCC TCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCT CTCTCCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTCCCTCTCC CTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(555): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAG AGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG02056.hp2 others(9): Show HG00408.hp1 HG00621.hp1 HG02056.hp2 HG02647.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18953.hp1 NA18973.hp1 NA18986.hp1 NA18988.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0007 a0001c0005 a0002c0007	a0001c0005t0003 a0001c0005t0009 a0001c0005t0017 others(3): Show a0001c0005t0003 a0001c0005t0009 a0001c0005t0017 a0001c0005t0029 a0001c0005t0092 a0002c0007t0029	a0001c0005t0003g0331 a0001c0005t0009g0100 a0001c0005t0009g0223 others(9): Show a0001c0005t0003g0331 a0001c0005t0009g0100 a0001c0005t0009g0223 a0001c0005t0009g0301 a0001c0005t0009g0302 a0001c0005t0009g0319 a0001c0005t0017g0013 a0001c0005t0017g0014 a0001c0005t0017g0015 a0001c0005t0029g0309 a0001c0005t0092g0106 a0002c0007t0029g0306	12	386	0.0311	562	c.92 others(573): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCC TCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCT CTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCC CTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(555): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAG AGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAG AGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03516.hp1 HG03540.hp2 HG02630.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0293 a0001c0005t0003g0354 a0001c0005t0003g0355 a0001c0005t0003g0293 a0001c0005t0003g0354 a0001c0005t0003g0355	3	386	0.0078	562	c.92 others(573): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCC TCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCT CTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCC CTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCTG others(555): Show TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	242	0.0041	562	c.360 others(581): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGGA GAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCTG others(555): Show TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	242	0.0041	562	c.360 others(581): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(555): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGAAAAGAAAAAAAGAAAGA AAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	342	0.0029	562	c.20- others(577): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(555): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAATGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAA GAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGA AAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0159 a0003c0008t0001g0159	1	188	0.0053	562	c.147 others(581): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCCTTCTTC CTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCT TTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTT CTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCT TTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCT TCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTC TTCCTTCTTCCTCTTCTTTCTTCTTCTTCATTCTTCTTCTTTCTTCCTTC TTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCT TCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTC TTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(555): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAATGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGGAAGAAGAA GGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGAAG AAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp1 HG01106.hp2 HG03098.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0020 a0014c0020t0001g0022 a0014c0020t0001g0020 a0014c0020t0001g0022	2	188	0.0106	562	c.147 others(581): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTC TTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTT CCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTT CTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCT TCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCT TCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTC TTCCTTCTTCCTCTTCTTTCTTCTTCTTCATTCTTCTTCTTTCTTCCTTC TTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCT TCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTC TTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGTGAG others(555): Show TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTG AGTGAGTGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGTGAGTG AGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	398	0.0025	562	c.194 others(579): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTC ACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCACTC ACTCACTCTCACTCACTCACTCACTCTCACTCACTCACTCACTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCTCACTCACTCACTCACTCACTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACACTCACTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKAG2_chr7_151551127_151882115	151855078	T T	TGCTCCAC others(555): Show TGCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACAC CACCATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCA TCCTCCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCC CTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCACCCT CCACACACACCACCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCAC ACACACCGCCCTCCACACACACCACCCTCCACACACCACCCTCCACACAC ACCACCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACAC CACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACACCA CCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCGCC CTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACCGCCCT CCACACACACCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0207 a0004c0008t0002g0207	1	252	0.0040	562	c.114 others(581): Show c.114+21428_114+21429insGCGGTGTGTGTGGAGGGCGGTGTGTG TGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTG GAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGA GGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGT GGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTG TGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTG TGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTG GAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGA GGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGT GGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PTP4A3_chr8_141387021_141437454	141429666	A A	AGGTCCCC others(555): Show AGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCA CAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGC ACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCG CACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAG CGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGA GCGCACAGTCCGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0050 a0001c0001t0029g0050	1	323	0.0031	562	c.405 others(579): Show c.405-1260_405-1259insGTCCCCGCTGTAAGGACCAGGTGGCGGG GACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACC AGATGGCGGGGACAGGGTGAGCGCACAGTCCGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
REPS2_chrX_16941658_17158272	17050133	C C	CCTTCTTC others(555): Show CCTTCTTCTTCCTTCTCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTTCTTTCTGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT GTTCTTTCTTTTTCTTCTTTCTTTCTTTCTTTCGTTCTTCTTCTTTCGTT CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTGTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTTC ATTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTGTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	166	0.0060	562	c.908 others(579): Show c.908-2246_908-2245insCTTCTTCCTTCTCTTCCTTCCTTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTGTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTCTGTTCTTTCTTTTTCTTCTTTCTTTCTTTCTTT CGTTCTTCTTCTTTCGTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTTCATTTCTTTCCTTTCTTTCTTTCTTTCTTTCTT TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTGTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RHBDD1_chr2_226831054_227004210	226940101	T T	TAAAAAAA others(555): Show TAAAAAAATCAGCTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATATACCAACCCAAATGTCCAACAATGAT AGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAG CCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTG GAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCG CATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACA GGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGG GAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGG TGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATAAAA AAAAAATAAAGAGAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	264	0.0038	562	c.856 others(581): Show c.856+25764_856+25765insCAAGTCTTTGCTATTGTGAATAGTGC CGCAATAAACATACGTGTGCATGTGTCTTTATATACCAACCCAAATGTCC AACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC ATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAATAAAAAAAAAATAAAGAGAAAACAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATCAGCTC	RHBDD1	ENSG00000144468.17	transcript	ENST00000392062.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(555): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTGTTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	332	0.0030	562	c.632 others(579): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(555): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	332	0.0030	562	c.632 others(579): Show c.632+8265_632+8266insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ATCCCCCC others(555): Show ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACC CCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCC ACAAGCATAGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACA AGCATCACTCCAGCCCTCCCCCATTCTCCTCACTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCAC TCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTC CAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAAC CCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCC TCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCACTC TCCTCATTCTACC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0017 a0001c0020t0017	a0001c0020t0017g0014 a0001c0020t0017g0014	1	280	0.0036	562	c.89- others(575): Show c.89-494_89-493insGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CTATGCTTGGGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAAT GCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGC TTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGG ATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGAT AGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGT GAGGAGAATGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAG GAGAGTAGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGA GTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGG GGGAGGGTTGGAGCAATGCTTGTGGGGGGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77485004	G G	GGGTGATG others(555): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTG TGGTGGTAGTGGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	150	0.0067	562	c.914 others(579): Show c.914-2410_914-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGAT GGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGG GTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGT GATGGTGATTGTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)