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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(617): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0169 a0001c0002t0004g0169	1	348	0.0029	624	c.927 others(639): Show c.927+710_927+711insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(617): Show ACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCAT CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACC ACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCAC CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC TACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATCACCACCATCACTGCT ATAACCACCACCACCACCACTATAACCACCACCACCACCACCACCACCAC TATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGATAA CCATCACCAACACCACTATAACCACCATCATCATCACCACCACTACCACT ACTATAACCATTACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0122 a0001c0002t0041g0122	1	230	0.0044	624	c.724 others(643): Show c.724-10675_724-10674insCAGTGATGGTGGTAATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGATGGT TATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAG TGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATA GCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGAT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTAT AGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGG TGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTG GTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGT GGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGA TGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DOCK8_chr9_209865_470255	400959	C C	CCACCACC others(617): Show CCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC CACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCA CCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCACC ACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCAC CAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCT CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCATC GCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATAT CACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCACCT CCACCATCACCACCTCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0030 a0030	a0030c0084 a0030c0084	a0030c0084t0003 a0030c0084t0003	a0030c0084t0003g0198 a0030c0084t0003g0198	1	256	0.0039	624	c.323 others(643): Show c.3234+1710_3234+1711insACCACCACCACCTCCACCACCACCAC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCC TTCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTC CACCACCACCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCA CCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACC ACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTA TCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACCTCCACC ACCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCTCC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928107	G G	GTGGTGGT others(617): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGAGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0111	1	288	0.0035	624	c.190 others(643): Show c.1909+7245_1909+7246insTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGG TGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM120B_chr6_170301758_170412067	170399739	T T	TCTTAGGA others(617): Show TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAATAGTAGTGAGTG GGAAGGTAGAACTATGTCATAACTCTAGGAGTGAGTGAACGAAAAGAGTG AGAACTCTGTCATAACTCATTAGGAGTGAGTGGGGAAGGTAGAACTATGT CAGAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGA GAAAGGTAGAACTATGTCATAACCTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATTAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA CCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAAGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	289	0.0035	624	c.269 others(643): Show c.2692+4176_2692+4177insAAAGGTAGAACTATGTCATAATAGTA GTGAGTGGGAAGGTAGAACTATGTCATAACTCTAGGAGTGAGTGAACGAA AAGAGTGAGAACTCTGTCATAACTCATTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCAGAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGAGAAAGGTAGAACTATGTCATAACCTTAGGAGTGAGTGGGGAAG GTAGAACTATGTCATTAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAAGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGAAGTGAGTGGGGAAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGGGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAG		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
GALR1_chr18_77244848_77282900	77252920	C C	CCACCATC others(617): Show CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0309 a0001c0001t0057g0309	1	366	0.0027	624	c.666 others(641): Show c.666+1708_666+1709insCCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(617): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	624	c.31 others(635): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGG GGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	441	0.0023	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGTCCACCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTG TTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	441	0.0023	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAAC GAGCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGA GTCCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACACGGTGGACTCGTTCGTGTTAGACGCCGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGG TGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTG GGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGG TTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCG TTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	441	0.0023	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAGT CCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCAC CGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCCG CGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCG TCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTC TAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTA ACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACGGCGTCTAACACGAACGAGTCCACCGTGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAG ACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp2 NA18970.hp1 others(2): Show HG02071.hp1 HG02083.hp2 NA18970.hp1 NA18972.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0166 a0001c0001t0001g0192 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0212	5	441	0.0113	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTG TGTTAGACACGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGG TGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTG GGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGG TTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCG TTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	441	0.0023	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAGT CCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCAC CGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCCG CGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCG TCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTC TAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTA ACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACCGCGTCTAACACGAACGAGTCCACCGTGTCTAACACAACACG AACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGT TCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	441	0.0023	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCA CCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGT TCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	441	0.0023	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCA CCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	441	0.0023	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0190 a0012c0014t0001g0190	1	441	0.0023	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18988.hp1 NA18995.hp2 others(1): Show HG02080.hp1 NA18988.hp1 NA18995.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0137 a0001c0001t0001g0204 a0001c0001t0001g0007 a0001c0001t0001g0137 a0001c0001t0001g0204	4	441	0.0091	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACC CTCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03834.hp1 NA19009.hp2 HG01257.hp1 HG03834.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0108 a0001c0001t0001g0216 a0001c0001t0001g0217	3	441	0.0068	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(617): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATG GATGGATAGGTGGATGAATGGATGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(44): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03490.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18964.hp1 NA18982.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19062.hp2 NA19066.hp2 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0012 a0001c0001 a0002c0002 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0004c0012t0001 a0004c0012t0002	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0053 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0002g0159 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0278 a0001c0001t0002g0300 a0001c0001t0003g0232 a0001c0001t0003g0270 a0001c0001t0010g0013 a0001c0001t0012g0027 a0002c0002t0003g0174 a0002c0002t0003g0225 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0260 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0285 a0002c0002t0003g0294 a0002c0002t0003g0298 a0002c0002t0003g0302 a0002c0002t0003g0304 a0002c0002t0004g0021 a0002c0002t0004g0036 a0002c0002t0004g0055 a0002c0002t0004g0067 a0002c0002t0004g0078 a0002c0002t0004g0113 a0002c0002t0004g0118 a0002c0002t0004g0134 a0004c0012t0001g0064 a0004c0012t0002g0263	47	310	0.1516	624	c.199 others(641): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGT GGGCGGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGA		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26						chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(617): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0130 a0002c0003t0001g0130	1	308	0.0033	624	c.127 others(643): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(617): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGGAA GGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAA AGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	386	0.0026	624	c.-46 others(635): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCC CCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCT CCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCT CCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTC CCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCC CCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTC TATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTT TCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4566		chr19	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(617): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	380	0.0026	624	c.507 others(641): Show c.507-8293_507-8292insATGAGATACTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(617): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATACATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	260	0.0039	624	c.125 others(641): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATACATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATATT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATATAAA others(617): Show TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTT ATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTAT GTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTAT TTATATATATTTATATATTTATATGTATTTATACATATATATTTATATGT ATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG01257.hp2 others(9): Show HG00140.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp1 HG03704.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0196 others(9): Show a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0196 a0001c0001t0001g0206 a0002c0002t0001g0014 a0002c0002t0001g0078 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0251 a0002c0002t0003g0030	12	260	0.0462	624	c.125 others(641): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTA		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6						chr10	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(617): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCGCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCT TACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCCCT GCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	414	0.0024	624	c.171 others(641): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACTG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGCG GGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACTGGGGGG GGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(617): Show ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACGCCCACAC TCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGC CCACACTTACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0055 a0001c0001t0025g0055	1	290	0.0035	624	c.129 others(641): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGC TTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACGCCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACTC ATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MBTPS1_chr16_84048763_84121942	84051959	C C	CCGCATGT others(617): Show CCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGC TACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAA GGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGCCGTATGT GGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCC GCATGTGCGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGG CAAGGCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGG AGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTG CGTAAGGACAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCC CCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCACGTGGGTAAGGA GAGCTGCAAGACCCCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGG GTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCG CATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18992.hp1 NA18952.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0001 a0001c0001t0001g0087	2	424	0.0047	624	c.24 others(635): Show c.2489_*2490insCCTTGCAGCTCTCCTTACCCACATGCGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGGG GCCTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTCTCCTTACCC ACGTGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCC GCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGG GCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCA CATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCCGCTCTCC TTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGGCCTTGCA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATACGGC CTTGCAGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCCTTACCCACA TGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTT ACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCG		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					1803		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(617): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0073 a0073	a0073c0083 a0073c0083	a0073c0083t0001 a0073c0083t0001	a0073c0083t0001g0032 a0073c0083t0001g0032	1	292	0.0034	624	c.377 others(641): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(617): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCC CCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACAC ACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCT GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCACACACAC ACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACACCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	399	0.0025	624	c.557 others(641): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGT GGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACAC ACACACACCCCCCCACACACACACCCCGCCCCACACACACACCCCCCGCC CCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCC GCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MUC4_chr3_195741771_195816929	195782475	G G	GGTGGATA others(617): Show GGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTA TGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTG GATGCTGAGGAAGTGTCGGTGTCAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATA CTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCT GAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGA GGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGG AAGCGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAA GCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGC GTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGA TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTCG GTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGACGAAGCGTCGGT GACAGGAAGAGGGGTGGTGTGACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp1 HG02895.hp1	a0094 a0094	a0094c0178 a0094c0178	a0094c0178t0004 a0094c0178t0004	a0094c0178t0004g0235 a0094c0178t0004g0235	1	249	0.0040	624	c.910 others(633): Show c.9104_9105insAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTC GTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCT CAGTGTTCACAGGTCATGCCACCTCTCTTCCTGTCACCATCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGT GTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGT CCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGTGTCC ACAGGTCACGCTACCCCTCTTCCTCTCACCAGCCTTTCCTCAGTATCCAC AGGTGACACCACGCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAG GTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGT GACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCA CGCCACCCCTCTTCCTGACACCGACACTTCCTCAGCATCCACAGGTCACG CCACCCTTCTTCCTGTCACCGACACTTCCTCAGCATCCATAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAATATCCAC	p.Thr others(639): Show p.Thr3035_Gly3036insGlyHisThrThrProLeuProValThrAsp AlaSerSerValSerThrGlyHisAlaThrSerLeuProValThrAspAl aSerSerValPheThrGlyHisAlaThrSerLeuProValThrIleProS erSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSer SerValSerThrGlyHisAlaThrSerLeuProValThrAspAlaSerSe rValSerThrGlyHisAlaThrProLeuProValThrAspAlaSerSerV alSerThrGlyHisAlaThrProLeuProLeuThrSerLeuSerSerVal SerThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSe rThrGlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerT hrGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerThr GlyHisAlaThrProLeuProAspThrAspThrSerSerAlaSerThrGl yHisAlaThrLeuLeuProValThrAspThrSerSerAlaSerIleGlyH isAlaThrSerLeuProValThrAspThrSerSerIleSerThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9216/16756	9104/16239	3035/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782941	G G	GGGGTGGT others(617): Show GGGGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGG GGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGA TGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTG GCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGC GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA CCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTG TGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTG GATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGA TACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATG CCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCT GAGGAAAGGCCGGTGACAGGAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0087 a0087	a0087c0184 a0087c0184	a0087c0184t0003 a0087c0184t0003	a0087c0184t0003g0215 a0087c0184t0003g0215	1	249	0.0040	624	c.863 others(633): Show c.8638_8639insATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCACAG GTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGT CACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCA CGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACG CCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACC ACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCT CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCTCT CTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCT TCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTCTT GTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCCTGT CACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCC	p.Thr others(639): Show p.Thr2879_Pro2880insHisLeuProValThrGlyLeuSerSerAla SerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAlaSe rThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValSerT hrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSerThr GlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerThrGl yAspThrThrProLeuProValThrSerProSerSerAlaSerThrGlyA spThrThrProLeuProValThrAspThrSerSerValSerThrGlyHis AlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisAl aThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaT hrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThr ProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIlePr oLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProL euProValThrSerLeuSerSerAlaSerThrGlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8750/16756	8638/16239	2880/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786951	G G	GGAAGTGT others(617): Show GGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGG AAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAA GTGTCGGTGTCAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGT GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGC TGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GAGAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGA CAGGAAGAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGG AAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGC GAGGTGGCGTGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGACACTGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02895.hp2 HG02895.hp2	a0074 a0074	a0074c0167 a0074c0167	a0074c0167t0001 a0074c0167t0001	a0074c0167t0001g0067 a0074c0167t0001g0067	1	249	0.0040	624	c.462 others(633): Show c.4628_4629insGTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGT CACCGACGCTTCCTCAGTGTTCACAGGTCACGCCACCTCGCTTCCTGTCA CCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCGA CGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACG CTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCACCGACACT TCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTCTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCA GTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGC ATCCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCC ACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTC	p.Ser others(639): Show p.Ser1543_Ser1544insSerValSerThrGlyHisAlaThrSerLeu ProValThrAspAlaSerSerValPheThrGlyHisAlaThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrProLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVal ThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValTh rAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValThrA spThrSerSerValSerThrGlyHisAlaThrProLeuProLeuThrSer LeuSerSerValSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLeuS erSerValSerThrGlyAspThrThrProLeuProValThrAspThrSer SerAlaSerThrGlyHisAlaThrProLeuProAspThrAspThrSerSe rAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerA laSerThrGlyHisAlaThrLeuLeuProValThrAspThrSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4740/16756	4628/16239	1543/5412			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(617): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA ATACACATCTATGTATTATATATCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	170	0.0059	624	c.332 others(643): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6161078	T T	TATATAAT others(617): Show TATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATAT AAAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTAT ATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATA AAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATA TATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAA AATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATAT ATTATATAGGATATAAAATATATTATTCTATATATTATATAGGATATAAA ATATATTATTCTATATATTATATAGGATATAAAATATATTATTCTATATA TTATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAAAA TATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATATAT AATATAGGATATATAATATATTATTCTATATATAATATAGGATATAAAAT ATATTCTATAAATAATATAGGATATAAAATATATTATTCTATATATAATA TAGGATATAAAATATATTATTCTAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp2 HG00741.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0050 a0001c0001t0004g0007 a0001c0001t0004g0050	2	128	0.0156	624	c.-30 others(643): Show c.-305-9308_-305-9307insGTAGAATAATATATTTTATATCCTAT ATTATATATAGAATAATATATTTTATATCCTATATTATTTATAGAATATA TTTTATATCCTATATTATATATAGAATAATATATTATATATCCTATATTA TATATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATAT TTTATATCCTATATTATATATAGAATAATATATTTTATATCCTATATAAT ATATAGAATAATATATTTTATATCCTATATAATATATAGAATAATATATT TTATATCCTATATAATATATAGAATAATATATTTTATATCCTATATAATA TATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTT TATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT ATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTT ATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATATA TAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTTA TATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5						chrX	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02280.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG02280.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 NA20300.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0003 a0001c0004 a0004c0021 others(1): Show a0001c0003 a0001c0004 a0004c0021 a0016c0038	a0001c0003t0001 a0001c0004t0003 a0004c0021t0003 others(1): Show a0001c0003t0001 a0001c0004t0003 a0004c0021t0003 a0016c0038t0001	a0001c0003t0001g0184 a0001c0003t0001g0204 a0001c0003t0001g0205 others(4): Show a0001c0003t0001g0184 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0209 a0001c0004t0003g0275 a0004c0021t0003g0206 a0016c0038t0001g0207	7	324	0.0216	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	324	0.0031	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGG AGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGG GGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp1 NA18973.hp2 HG02071.hp2 HG02129.hp1 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0013 a0001c0024 a0001c0007 a0001c0013 a0001c0024	a0001c0007t0009 a0001c0013t0003 a0001c0024t0001 a0001c0007t0009 a0001c0013t0003 a0001c0024t0001	a0001c0007t0009g0310 a0001c0013t0003g0223 a0001c0024t0001g0224 a0001c0007t0009g0310 a0001c0013t0003g0223 a0001c0024t0001g0224	3	324	0.0093	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCT GGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGG ACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0248 a0001c0008t0001g0248	1	324	0.0031	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(617): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACA GAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAG CCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCC CACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0170 a0001c0001t0024g0170	1	324	0.0031	624	c.140 others(641): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGC TCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGT GGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTC GGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATAAAGT ATATATATAATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATTATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0004g0251 a0001c0001t0004g0256	2	308	0.0065	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATAATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	308	0.0033	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(617): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATATAAAAT ATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0257	1	308	0.0033	624	c.730 others(641): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATAATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(617): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCC CCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	242	0.0041	624	c.360 others(643): Show c.360+30492_360+30493insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(617): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02922.hp2 HG02280.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0007g0023 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0007g0023	3	155	0.0194	624	c.155 others(643): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(617): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	155	0.0065	624	c.155 others(643): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(617): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTA TCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATT TTCAGACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG00741.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0298 a0001c0001t0002g0025 a0001c0001t0002g0298	2	366	0.0055	624	c.27 others(635): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGAC TGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCA CTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(617): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCAT GGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCA GACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTA TCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATT TTCAGACCACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03710.hp2 HG03831.hp2 others(1): Show HG03490.hp2 HG03710.hp2 HG03831.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0238 a0001c0001t0002g0256 a0001c0001t0002g0273 others(1): Show a0001c0001t0002g0238 a0001c0001t0002g0256 a0001c0001t0002g0273 a0001c0001t0004g0027	4	366	0.0109	624	c.27 others(635): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTG GTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTA CCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGAC TGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCA CTTACCCATGATACTGCTTTCCTTGAGTTCAGTTACTGTC		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding					2224		chr7	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CCGTGAGA others(617): Show CCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGGGGTT CCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA CTGTGTGAGAGGAGGGGATTCCGTGAGAGGAGGGGATTGTGTGAGAGGAG GGGGTTCTGTGAGAGGAGGGGACTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	367	0.0027	624	c.4-1 others(637): Show c.4-1188_4-1187insCAGTCCCCTCCTCTCACAGAACCCCCTCCTCT CACACAATCCCCTCCTCTCACGGAATCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCAGAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACA GTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCT CTCACACAGTCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCC TCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCC CTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAA CCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCAC AGAACCCCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCA CAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCT CTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACG		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGACAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	624	c.-26 others(635): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTG TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	436	0.0046	624	c.-26 others(635): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar

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Search Results (Total: 10000 hits)