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
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(568): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC TTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCT CTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03486.hp1 HG03041.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0256 a0001c0002t0004g0258 a0001c0002t0013g0257 a0001c0002t0004g0256 a0001c0002t0004g0258 a0001c0002t0013g0257	3	270	0.0111	575	c.162 others(596): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCT CCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCT TCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCC T	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133748	T T	TTCTCTCC others(568): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTGTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	223	0.0045	575	c.-42 others(586): Show c.-4296_-4295insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4013		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(568): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATATATCAGATATATAT ATCATATATATCATATATATCATTTGTATCATATATATATCATATATATC ATATGTATCATATATATCATGTATATATCATATATATCATATATATCATA TATGTATTCATATATATCATATATATTCATATATCATATATATTCATATA TATCATATATTCATATATATCATATATATTCATATATATCATATATTCAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATATCATATATATTCATATATATATCATATATATT CATATATATATCATATATATTCATATATATATCATATATATTCATATATA TATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	182	0.0055	575	c.267 others(592): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATATATCAGATATATATAT CATATATATCATATATATCATTTGTATCATATATATATCATATATATCAT ATGTATCATATATATCATGTATATATCATATATATCATATATATCATATA TGTATTCATATATATCATATATATTCATATATCATATATATTCATATATA TCATATATTCATATATATCATATATATTCATATATATCATATATTCATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATATCATATATATTCA TATATATATCATATATATTCATATATATATCATATATATTCATATATATA TCATATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(568): Show TATAAATATATATAAATATATAAATATATATAAATATAAATATATATAAA TATATAAATATATAAATATATATAAATATATAAATATATATAAATATATA TAAATATAAAAATATATATAAATATATAAATATATATAAATATATATGTA AATATATAAATATATATAAATATATATGTAAATATATAAATATATATAAA TAAATATATATAAATATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATATA TAAATATATATATATTTATAAATATATAAATATATATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAAAT ATATATAAATATATATATAAATATATATATAAATATATATATAAATATAT ATATAAATATATATATATAAATATATATAAATATATAACTATATAAATAA ATATATATAAATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	264	0.0038	575	c.181 others(594): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTACATATATTTATATATTTATATATATTTATATTTTTTATATATTTA TATATATTTTTATATATATTTATATATTTATAAATATATATATATTTATA TATTTATAAATATATATATATTTATATATTTATAAATATATATATATTTA TATATTTATAAATATATTTATATTTATATATATTTACATATATATTTAGA ATTACATATTTATATATATATTTATATTTATATATATTTATATATATTTA TTTATATATATTTATATATTTACATATATATTTATATATATTTATATATT TACATATATATTTATATATATTTATATATTTATATATATTTTTATATTTA TATATATTTATATATATTTATATATTTATATATATTTATATATTTATATA TTTATATATATTTATATTTATATATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL6A1_chr21_45976770_46010048	45988422	G G	GGTCCAGA others(568): Show GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC CAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCA GATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGGACGGCGGGGGTCCAG ATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGACGGCGGG GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTC CAGATGGAGGGGACGGCGGGGGACGGCGGGGTCCAGATGGAGGGGACGGC GGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG GACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACG GCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGG GAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGG TCCAGATGGAGGGGACGGCGGGGACGGCGGGGTCCAGATGGAGGGGATGG CGGGGTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0016 a0001c0017t0003g0016	1	128	0.0078	575	c.805 others(590): Show c.805-661_805-660insTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGA GGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGG GGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGG GACGGCGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGGACGGCGGGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCA GATGGAGGGGACGGCGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGG GTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCC AGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGACGGCGGGG TCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(568): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC ACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18983.hp1 NA18969.hp1 NA18983.hp1	a0006 a0009 a0006 a0009	a0006c0007 a0009c0010 a0006c0007 a0009c0010	a0006c0007t0001 a0009c0010t0003 a0006c0007t0001 a0009c0010t0003	a0006c0007t0001g0093 a0009c0010t0003g0229 a0006c0007t0001g0093 a0009c0010t0003g0229	2	350	0.0057	575	c.488 others(592): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCC TCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3448345	G G	GAAGGAAG others(568): Show GAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGG GAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGG AAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGAG GAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGGAAGGAAGGAAGGAAGA AGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGG AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGA AGGGAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGG AGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGG GAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGGAAGGAAGGAAGGA AGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGAGGAGGAAGGGAGGG GGGAGGGAGGGAGGGAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0045 a0001c0111t0045	a0001c0111t0045g0063 a0001c0111t0045g0063	1	126	0.0079	575	c.156 others(596): Show c.1561+20366_1561+20367insTCCTTCCTCCTCCCTCCCTCCCTC CCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTT CTTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTCCCCCCTCCCTTCCTCC TCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTTC CTCCTCCCTCCCTCCCTCCCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCC CTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTC CTTCTTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTCCCCCCTCCCTTCC TCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCC TTCCTCCTCCCTCCCTCCCTCCCCCCTCCCTTCCTCCTCCCTCCTCCCCC TCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTTCCTTCCTCCCTCCC TCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTTCTTCCTTCCTTCCT T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
DCDC2C_chr2_3698575_3853008	3725811	A A	AAGGCTGC others(568): Show AAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGTGATGAGGCT GCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGAGATGAGGCTGCCAGG TGGATCCTGGAGGGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGAT CCCGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTCGGTGGATCCCAGA GGGAGATGAGCAGAGAGTGATGAGGCTGCTCGGTGGATCCCAGAGGGAGA TGAGCAGAGAGAGATGAGGCTGCCAGGTGGATCCTGGAGGGAGACTGCCA GAGAGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATGAGTAGAGAG TGATAAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGTGATGA GGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGAGATGAGGCTGC CAGGTGGATCCTGGAGGGAGACTGCCAGAGAGTGATGAGGGTGGCCAGGT GGATCCCGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTCGGTGGATCC CAGAGGGAGATGAGCAGAGAGTGATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02145.hp1 HG02451.hp1	a0005 a0005	a0005c0010 a0005c0014 a0005c0010 a0005c0014	a0005c0010t0013 a0005c0014t0013 a0005c0010t0013 a0005c0014t0013	a0005c0010t0013g0243 a0005c0014t0013g0241 a0005c0010t0013g0243 a0005c0014t0013g0241	2	324	0.0062	575	c.340 others(592): Show c.340-1153_340-1152insTGATGAGGCTGCTCGGTGGATCCCAGAG GGAGATGAGCAGAGAGAGATGAGGCTGCCAGGTGGATCCTGGAGGGAGAC TGCCAGAGAGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATGAGTA GAGAGTGATAAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGT GATGAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAGAGATGAG GCTGCCAGGTGGATCCTGGAGGGAGACTGCCAGAGAGTGATGAGGGTGGC CAGGTGGATCCCGGAGGGAGATGAGTAGAGAGTGATAAGGCTGCTCGGTG GATCCCAGAGGGAGATGAGCAGAGAGTGATGAGGCTGCTCGGTGGATCCC AGAGGGAGATGAGCAGAGAGAGATGAGGCTGCCAGGTGGATCCTGGAGGG AGACTGCCAGAGAGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATG AGTAGAGAGTGATAAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGA GAGTGATGAGGCTGCTCGGTGGATCCCAGAGGGAGATGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875284	C C	CCACCCCC others(568): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCGCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCGCACCCGCACCCGCACCCCCACCCTCACCCTCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCGCACCCCACCCCCACC CCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCTCACCCTCA CCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACC CTCACCCGCACCCGCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	320	0.0031	575	c.39 others(586): Show c.3948_*3949insAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGAGGGTG AGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGA GGGTGAGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTGCGGGTGCGGGTGC GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2458		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(568): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGGGGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0072 a0072	a0072c0215 a0072c0215	a0072c0215t0001 a0072c0215t0001	a0072c0215t0001g0100 a0072c0215t0001g0100	1	252	0.0040	575	c.118 others(594): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTC CCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTC CTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(568): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(57): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02486.hp1 HG02683.hp1 HG02809.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03942.hp1 HG06807.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18963.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19009.hp2 NA19043.hp2 NA19064.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0024	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0001c0016 a0001c0017 a0001c0019 a0001c0024 a0001c0025 a0001c0027 a0001c0048 a0001c0049 a0001c0074 a0006c0085 a0008c0045 a0024c0029	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0006t0002 a0001c0011t0001 a0001c0013t0001 a0001c0016t0002 a0001c0017t0001 a0001c0019t0002 a0001c0024t0001 a0001c0025t0001 a0001c0025t0002 a0001c0027t0001 a0001c0048t0002 a0001c0049t0002 a0001c0074t0001 a0006c0085t0001 a0008c0045t0001 a0024c0029t0001	a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 others(57): Show a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0002t0001g0108 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0001g0105 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0121 a0001c0003t0001g0123 a0001c0003t0001g0131 a0001c0003t0001g0157 a0001c0006t0001g0070 a0001c0006t0001g0138 a0001c0006t0002g0153 a0001c0006t0002g0170 a0001c0011t0001g0075 a0001c0013t0001g0057 a0001c0013t0001g0083 a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0017t0001g0034 a0001c0017t0001g0039 a0001c0019t0002g0165 a0001c0024t0001g0054 a0001c0024t0001g0125 a0001c0025t0001g0115 a0001c0025t0002g0188 a0001c0027t0001g0141 a0001c0048t0002g0028 a0001c0049t0002g0178 a0001c0074t0001g0134 a0006c0085t0001g0168 a0008c0045t0001g0132 a0024c0029t0001g0104	60	192	0.3125	575	c.441 others(594): Show c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618604	G G	GGTGTGTG others(568): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTG TGTGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(64): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG06807.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19064.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0008 a0010 a0019 a0026	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0018 a0001c0019 a0001c0024 a0001c0025 a0001c0028 a0001c0050 a0001c0051 a0001c0079 a0005c0034 a0007c0027 a0008c0091 a0010c0046 a0019c0049 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0016t0001 a0001c0018t0001 a0001c0019t0002 a0001c0024t0001 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0050t0001 a0001c0051t0002 a0001c0079t0001 a0005c0034t0002 a0007c0027t0007 a0008c0091t0002 a0010c0046t0001 a0019c0049t0001 a0026c0030t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0002t0001g0003 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0098 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0002g0161 a0001c0006t0001g0072 a0001c0006t0001g0121 a0001c0006t0002g0151 a0001c0006t0002g0176 a0001c0008t0001g0109 a0001c0008t0001g0126 a0001c0008t0002g0157 a0001c0009t0001g0053 a0001c0009t0001g0064 a0001c0009t0001g0089 a0001c0016t0001g0026 a0001c0016t0001g0027 a0001c0018t0001g0088 a0001c0018t0001g0100 a0001c0019t0002g0171 a0001c0024t0001g0054 a0001c0024t0001g0085 a0001c0025t0001g0012 a0001c0025t0002g0191 a0001c0028t0001g0060 a0001c0050t0001g0028 a0001c0051t0002g0195 a0001c0079t0001g0068 a0005c0034t0002g0153 a0007c0027t0007g0159 a0008c0091t0002g0174 a0010c0046t0001g0066 a0019c0049t0001g0104 a0026c0030t0001g0016	67	208	0.3221	575	c.446 others(594): Show c.4465-1940_4465-1939insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(568): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0317 a0001c0003t0001g0317	1	384	0.0026	575	c.215 others(592): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(568): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0029 a0001c0014t0001g0029	1	384	0.0026	575	c.215 others(592): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(568): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG01943.hp2 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0001 a0003c0004t0003	a0003c0004t0001g0141 a0003c0004t0003g0143 a0003c0004t0001g0141 a0003c0004t0003g0143	2	384	0.0052	575	c.215 others(592): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(568): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0331	1	384	0.0026	575	c.215 others(592): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(568): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	384	0.0026	575	c.215 others(592): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM240C_chr2_241888988_241905464	241896500	G G	GTTGGGGG others(568): Show GTTGGGGGTGTGGGTGTTGGGGGTGTGGGTGTTGGGGGTGTGGGTGTTGG GGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGGTGTGG GTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGG GTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGT GTGGGGGTGTGGGTGAGGGGGTGTGGGTGAGGGGGTGTGGGTGTTGGGGT GTGGGTGAGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGT TGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGT GGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGAGG GGGTGTGGGTGTGGGGGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGT GAGGGGGTGTGTGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGT GTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGTGTGT TGGGGTGTGGGTGTTGGGGTGTGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	37	0.0270	575	c.161 others(590): Show c.161+685_161+686insACCCACACCCCAACACCCACACCCCAACAC ACACACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCACACCC CAACACCCACACCCCAACACCCACACCCCAACACACACACCCCCTCACCC ACACCCCCACACCCACACCCCCACACCCACCCCCACACCCACACCCCCTC ACCCACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACAC CCCTTCACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACAC CCACACCCCAACACCCACACCCCAACACCCACACCCCCTCACCCACACCC CAACACCCACACCCCCTCACCCACACCCCCTCACCCACACCCCCACACCC ACACCCCAACACCCACACCCCTTCACCCACACCCCAACACCCACACCCCA ACACCCACACCCCTTCACCCACACCCCAACACCCACACCCCCACACCCAC ACCCCCAACACCCACACCCCTTCACCCACACCCCCACACCCACACCCCAA CACCCACACCCCCAACACCCACACCCCCAACACCCACACCCCCAA	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FLT3_chr13_27998274_28105576	27999069	G G	GTATGTAT others(568): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATACATTTATATACATATAAATATATACATATATACATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATATATTTATATATATATAAATATATATATATTTGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0002 a0004c0006t0007g0002	1	292	0.0034	575	c.49 others(586): Show c.4982_*4983insAATTTATATGTATATAAATATATATTTATATGTA TATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATA ATTATATATTTATATGTATATAAATATATATTTATATGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACAAATATATATATATTTATATATATATAAATATATATAAATATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTATA TGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTA TGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4204		chr13	TogoVar
FLT4_chr5_180596506_180654600	180615704	T T	TTCCTTTT others(568): Show TTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCT TTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATC CACTGTCTTTCGGAGCACTGGGGCCCCGCTGGTCACCTCCCTTCTCCACT TCCGAAATCCACTTCCTTTAGGAGCACTGGGTCCCGCTGGTCACCTCCCT TCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCC ACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTC CGAAATCCACTGTCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTC TCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGCCCGCCGGTCACC TCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTT CTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCAC TTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACTGGGCCTGCCGGTCACC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0036 a0003c0005t0001g0036	1	388	0.0026	575	c.321 others(592): Show c.3219+662_3219+663insGGTGACCGGCAGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGG TGACCGGCGGGCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGA AGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGACAGTGGATTTCGGA AGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGG AGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAG GGAGGTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGA TTTCGGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAG GAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
GALNT9_chr12_132191372_132334589	132234298	C C	CAGAGGAG others(568): Show CAGAGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGAC AGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAG CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	183	0.0055	575	c.107 others(596): Show c.1077+13611_1077+13612insCTCACGCCATCGAGTGTGTGGCAC TAGGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACCA GGGACTCCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGG GGCTCCACACTGTCTCCTCTGTCACCCCATCGAGTGTGTGGCACTAGGGA CTCCACGCTGTCTCCTCTCTCACGCCATCGAGTGTGTGGCACTAGGGACT CCACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGGGGCTCC ACGCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGGGGCTCCAC GCTGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCAGTAGGGACTCCACGC TGTCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGGGGCTCCACGCTG TCTCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGGGACTCCACGCTGTC TCCTCTGTCGCCCCATCGAGTGTGTGGCACTAGGGGCTCCACGCTGTCTC CTGTCGCCCCATGGAGTGTGTGGCAGTAGGGGACTCCACGCTGTCTCCTC T	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(568): Show CGGGACACATCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGG GACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	143	0.0070	575	c.35 others(586): Show c.3535_*3536insATGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAG GGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGT GGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGG GGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3220		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(568): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00621.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	575	c.31 others(586): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG7_chr19_2506219_2707694	2553987	T T	TATATAAT others(568): Show TATATAATATATTACACATATGTATATATTATATGTAATATATAATATAT TACACATATGTATATATTATATGTAATATATAATATATTACACATATGTA TATATTATATGTAATATATAATATATTACACATATGTATATATTATATGT AATATATAATATATTACACATATGTATATATTATATGTAATATATAATAT ATTACACATATGTATATATTATATGTAATATATAATATATTACACATATG TATATATTATATGTAATATATAATATATTACACATATGTATATATTATAT GTAATATATAATATATTACACATATGTATATATTATATGTAATATATAAT ATATTACACATATGTATATATTATATGTAATATATAATATATTACACATA TGTATATATTATATGTAATATATAATATATTACACATATGTATATATTAT ATGTAATATATAATATATTACACATATGTATATATTATATGTAATATATA ATATATTACACATATGTATATATTATATGTAATATATAATATATTACACA TATGTATATATTATATGTAATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0016 a0001c0001t0050g0016	1	206	0.0049	575	c.-38 others(592): Show c.-38+1161_-38+1162insTATATATTACATATAATATATACATATG TGTAATATATTATATATTACATATAATATATACATATGTGTAATATATTA TATATTACATATAATATATACATATGTGTAATATATTATATATTACATAT AATATATACATATGTGTAATATATTATATATTACATATAATATATACATA TGTGTAATATATTATATATTACATATAATATATACATATGTGTAATATAT TATATATTACATATAATATATACATATGTGTAATATATTATATATTACAT ATAATATATACATATGTGTAATATATTATATATTACATATAATATATACA TATGTGTAATATATTATATATTACATATAATATATACATATGTGTAATAT ATTATATATTACATATAATATATACATATGTGTAATATATTATATATTAC ATATAATATATACATATGTGTAATATATTATATATTACATATAATATATA CATATGTGTAATATATTATATATTACATATAATATATACATATGTGTAAT ATATTATATATTACATATAATATATACATATGTGTAATATATTATAT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GP6_chr19_55008705_55043264	55019678	C C	CTTTTTTT others(568): Show CTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCGTCCAGGCTG GAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTC ACACCATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCT GCCATCACGCCTGGCCAACTTTTTTTTTTGTACTTTAGTAGAGGCGGGGT TTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CTCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCTGCGCCTGGCCACAGA CTGTTTTTCAAAGCAGCTGCACCATTTTATATTCCCACCAGCAATATAAG AAGGTTCTTCCAAATCCTCACCAATACTTCTTGTCCGTTTGTTTTGTTTT AAAAATCATAGTCATCCTAGTTGGCATGGTGAATTTTATGGTATGTGAAT TATATCTCAGTTTGAATAATAAGATGTGGATCCATGTCTTCGTGAGCCTA GAGGAAGAATGAGCTCGTGTTAGCCTCAGAACACGGGATCTCCACCTTCC AACTTAGGCCATTTTCTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	441	0.0023	575	c.665 others(590): Show c.665-968_665-967insAAGAAAAAAAGAAAATGGCCTAAGTTGGAA GGTGGAGATCCCGTGTTCTGAGGCTAACACGAGCTCATTCTTCCTCTAGG CTCACGAAGACATGGATCCACATCTTATTATTCAAACTGAGATATAATTC ACATACCATAAAATTCACCATGCCAACTAGGATGACTATGATTTTTAAAA CAAAACAAACGGACAAGAAGTATTGGTGAGGATTTGGAAGAACCTTCTTA TATTGCTGGTGGGAATATAAAATGGTGCAGCTGCTTTGAAAAACAGTCTG TGGCCAGGCGCAGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGAGGGTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCC CGCCTCTACTAAAGTACAAAAAAAAAAGTTGGCCAGGCGTGATGGCAGGT GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATGGTGTGAAC CCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGC CTGGACGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55019678	C C	CTTTTTTT others(568): Show CTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCGTCCAGGCT GGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTT CACACCATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACC TGCCATCACGCCTGGCCAACTTTTTTTTTTGTACTTTAGTAGAGGCGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCAC CCTCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCTGCGCCTGGCCACAG ACTGTTTTTCAAAGCAGCTGCACCATTTTATATTCCCACCAGCAATATAA GAAGGTTCTTCCAAATCCTCACCAATACTTCTTGTCCGTTTGTTTTGTTT TAAAAATCATAGTCATCCTAGTTGGCATGGTGAATTTTATGGTATGTGAA TTATATCTCAGTTTGAATAATAAGATGTGGATCCATGTCTTCGTGAGCCT AGAGGAAGAATGAGCTCGTGTTAGCCTCAGAACACGGGATCTCCACCTTC CAACTTAGGCCATTTTCTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	441	0.0023	575	c.665 others(590): Show c.665-968_665-967insAGAAAAAAAGAAAATGGCCTAAGTTGGAAG GTGGAGATCCCGTGTTCTGAGGCTAACACGAGCTCATTCTTCCTCTAGGC TCACGAAGACATGGATCCACATCTTATTATTCAAACTGAGATATAATTCA CATACCATAAAATTCACCATGCCAACTAGGATGACTATGATTTTTAAAAC AAAACAAACGGACAAGAAGTATTGGTGAGGATTTGGAAGAACCTTCTTAT ATTGCTGGTGGGAATATAAAATGGTGCAGCTGCTTTGAAAAACAGTCTGT GGCCAGGCGCAGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGAGGGTGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCC GCCTCTACTAAAGTACAAAAAAAAAAGTTGGCCAGGCGTGATGGCAGGTG CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATGGTGTGAACC CGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCC TGGACGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7			chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524848	G G	GTGGAAAG others(568): Show GTGGAAAGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0156 a0002c0002t0008g0156	1	188	0.0053	575	c.109 others(594): Show c.1099-9960_1099-9959insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCTTTCCA	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(568): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCTCCTCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCC CCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCTCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0028 a0001c0020t0001g0028	1	290	0.0035	575	c.427 others(592): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTC CCCCCCCTCCTCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	313971	C C	CCCCCACC others(568): Show CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA ATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCTGTTGGAATCT TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCT CCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCAC CCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATGTCCTCAAATGC TACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCTTCCA GGGCTGAGAAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGAC CCCAGCCGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTC CTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACC CTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATGTCCTCAAATGCT ACCAGGAGACGGAGACCCCAGCTGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0076 a0002c0005t0004g0076	1	155	0.0065	575	c.757 others(590): Show c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA TTTGAGGACATAGGAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTG GGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGA CCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCT CCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTTCTCAGCCCTGGA AGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCAT TTGAGGACATAGGAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGG GGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGAC CCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTC CGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGAT TCCAACAGGGTGGGGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGA GGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	5/9			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(568): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATGTATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATACATATGGAACATATATACGGA ATATATACATATGGAACATATATATACGGAATATATACATATGGAACATA TATATACGGAATATATACATATGGAACATATATATGGAATATATACATAT GGAACATATATATGGAATATATACATATGGAACATATATATGGAATATAT ACATATGGAACATATATATGGAATATATACATATGGAACATATATATGGA ATATATACATATGGAACATATATATGGAATATATACATATGGAACATATA TATGGAATATATACATATGGAACATATATATGGAATATATATATATGGAA CATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	323	0.0031	575	c.-21 others(586): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATGTATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATACATATG GAACATATATACGGAATATATACATATGGAACATATATATACGGAATATA TACATATGGAACATATATATACGGAATATATACATATGGAACATATATAT GGAATATATACATATGGAACATATATATGGAATATATACATATGGAACAT ATATATGGAATATATACATATGGAACATATATATGGAATATATACATATG GAACATATATATGGAATATATACATATGGAACATATATATGGAATATATA CATATGGAACATATATATGGAATATATACATATGGAACATATATATGGAA TATATATATATGGAACATATATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(568): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03486.hp1 HG02818.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189	3	375	0.0080	575	c.-22 others(586): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(568): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAG GGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGA GGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGG GAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAA GGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGA AGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAA GGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0002 a0021c0023t0002	a0021c0023t0002g0086 a0021c0023t0002g0086	1	88	0.0114	575	c.507 others(594): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAGGAAGGA AAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAA GGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAG GGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAG GGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(568): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02135.hp1 HG02602.hp2 others(1): Show HG01993.hp1 HG02135.hp1 HG02602.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0142	4	194	0.0206	575	c.71- others(588): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(568): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATATATAATTATATTATAGATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATATTATAAC TTATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATA TAATATGTTATAATATATAATTATATTCTATATATAATTATATATAATAT AATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	575	c.-32 others(586): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATATAATTATATATAATATATTATATATTATAATACTATTAATATAATTA TATTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATAT ATAATATAATTATATATTATATAATATATAATATAATTATATATTATATA ATCTATAATATAATTATATATTATATAATATATAATATAATTATAGATTA TATAATATATAATATAATTATAGATTATATAATATATAATATAATTATAT ATTATATAATATATAATATAATTATATATTATATAATATGTTTAATATAA TTATATATAATATAATTATATTATATATTATATTATAATTATATAATATA TAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATA TATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(568): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCATCCCCTCCC CTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0023 a0002c0004t0001g0023	1	140	0.0071	575	c.114 others(594): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCC CTCCTCCCCTCATCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYDGF_chr19_4652545_4675342	4663639	C C	CCCCACCC others(568): Show CCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACC CACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCA CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCAT TCTACACAGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTACAGCC TCCAGTATACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTCTCCAA TCTGTGCTCTCCCCACCCACCCCATCCTCATTCTACAAAGCCTCCAATCT ACCCTCCCCACCCACCCCATCCTCATTCTACACAGTCTCCAATCTGTGCC CTCTCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCA CCTCATCCTCATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCTGTC CTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATCCTC ATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCCATCCTCATTCTAC ACAGTCTCCAATCTGTGCTCTCCCCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0104	1	410	0.0024	575	c.287 others(592): Show c.287+1236_287+1237insTGGGGAGAGCACAGATTGGAGACTGTGT AGAATGAGGATGGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGA GGATGGGGTGGGTGGGGAGAGCACAGATTGGAGACTGTGTAGAATGAGGA CAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGAGGATGAGGTG GGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGAGAGGG CACAGATTGGAGACTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAG ATTGGAGGCTTTGTAGAATGAGGATGGGGTGGGTGGGGAGAGCACAGATT GGAGACTGTGTAGAATGAGGACAGGGTGGGTGGGGAGGGTATACTGGAGG CTGTAGAATGAGGATGAGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTG GGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGG TGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(568): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	384	0.0052	575	c.160 others(592): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCAT CATGGTCACCACCATCATTACCACTACCACCACGACTACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGC CGCCACCACCACCACCACCACCATCACCACCATCACCACCATCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(568): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGCGGCGATGGTGGTGGTGGT GATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	384	0.0026	575	c.160 others(592): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCA CCACCATCACCACCATCACCACCACCACCACCATCACCACCACCACCATC ATGGTCACCACCATCATTACCACTACCACCACGACTACCACCACCACCAC CACTACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCAC CACCACCACCATCGCCGCCACCACCACCATCACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(568): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	350	0.0029	575	c.-28 others(586): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(568): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA TAGTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATA TAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATA GTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATA GTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAAC TATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATT TTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02630.hp2 others(7): Show HG02257.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03579.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0001 a0003c0012t0001 a0001c0002t0001 a0003c0012t0001	a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 others(7): Show a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0003c0012t0001g0219 a0003c0012t0001g0220 a0003c0012t0001g0221	10	244	0.0410	575	c.342 others(594): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTA TATAAACTATATAGTTTTAAACTATATATAAACTATATAGTTTAAAACTA TATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAAC TATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAA ACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCACGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCACATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA19030.hp2 HG01169.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0110 a0001c0002t0001g0246 a0001c0001t0001g0110 a0001c0002t0001g0246	2	370	0.0054	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCACGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCACATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACATACACACACCACACACACACAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	370	0.0027	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACA CACAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCGCATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCACATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19002.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0005 a0003c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 a0003c0008t0001 a0004c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(155): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0002g0349 a0001c0001t0003g0024 a0001c0002t0001g0002 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0082 a0001c0002t0001g0099 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0180 a0001c0002t0001g0192 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0244 a0001c0002t0001g0254 a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0281 a0001c0002t0001g0291 a0001c0002t0001g0297 a0001c0002t0001g0343 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0006t0001g0086 a0001c0006t0001g0173 a0001c0006t0001g0174 a0001c0007t0001g0220 a0002c0003t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0087 a0002c0003t0001g0103 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0136 a0002c0003t0001g0147 a0002c0003t0001g0159 a0002c0003t0001g0164 a0002c0003t0001g0191 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0001g0201 a0002c0003t0001g0203 a0002c0003t0001g0211 a0002c0003t0001g0235 a0002c0003t0001g0256 a0002c0003t0001g0269 a0002c0003t0001g0285 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0328 a0002c0003t0001g0356 a0002c0005t0001g0259 a0002c0005t0001g0261 a0002c0005t0001g0263 a0002c0005t0001g0319 a0003c0008t0001g0034 a0004c0010t0001g0326	161	370	0.4351	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCACATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCA CACACACAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02145.hp2 others(2): Show HG01346.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0289 a0001c0001t0001g0345	5	370	0.0135	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCGCATACACACACCACACACACAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01358.hp1 others(11): Show HG00099.hp2 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG02451.hp2 HG02647.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0133 others(11): Show a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0005g0223 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0048 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0355 a0002c0003t0001g0212	14	370	0.0378	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCGCATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGATACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCACATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACACATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	370	0.0027	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGATACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCACATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACACATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(568): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGTGCGACACA CGTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAA CATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACA CATGCGCACACACACAGAATAACACCACACACACGCGCATACACACACCA CACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAA TACCACCACACACACATGCACAAATGCATACAGACATACATCACACACAC AATAACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0350 a0001c0001t0001g0014 a0001c0001t0001g0350	2	370	0.0054	575	c.19- others(592): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGTGCGACACACGTGCACACATAGACATACACACACCACACACA CAGAATAACACCAGAAACATGCACACACAGACATACACACACCACACACG GAATAACACCACCCACACATGCGCACACACACAGAATAACACCACACACA CGCGCATACACACACCACACACAGAGTAACACACACGCACACACACAGAT ATACACCACACACAGAATACCACCACACACACATGCACAAATGCATACAG ACATACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
PAK2_chr3_196734857_196837647	196811266	T T	TTCCCTCC others(568): Show TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACC CTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0027 a0001c0001t0049g0027	1	178	0.0056	575	c.773 others(590): Show c.773+618_773+619insCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTTCCTTCCCTACCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCT TCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(568): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTG CACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCT CCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCC ATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCC TCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCC TCACCCTGCACCTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG03688.hp2 HG02083.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0058 a0001c0002t0001g0032 a0001c0002t0001g0058	2	360	0.0056	575	c.37 others(586): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCAC CTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAAT CCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTAC CTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCAC CTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCC CTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(568): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0228 a0001c0006t0001g0228	1	262	0.0038	575	c.129 others(592): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar

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Search Results (Total: 10000 hits)