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
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(614): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCT CACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCT CCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTT TACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCC TTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCC GCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03239.hp2 HG02055.hp1 HG03239.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0061 a0008c0013t0001 a0001c0001t0061 a0008c0013t0001	a0001c0001t0061g0186 a0008c0013t0001g0021 a0001c0001t0061g0186 a0008c0013t0001g0021	2	268	0.0075	621	c.-36 others(632): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATC CTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(614): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGGTCAAAGT TGCCATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTC ACATGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTC ATTTGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTG CAGATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATA GGTAGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTT CGTGAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTG ATACAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGA ATCACAGTGTTATATTTATTTCCACATATTCTATATTAATAATATAATTT TTAATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATG CAGCTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAG CTTTTATATTTAGATTTAAATATTTCAGTTGCATTTCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTACTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0212 a0001c0002t0005g0212	1	358	0.0028	621	c.122 others(638): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAATGCAACTGAAATATTTAAATCTAAATATAAAAGCTATTT TTAAATGGCTGAAATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATA CTTATAGCAGTTATTGAATGAAAACTTAAAATACATGGAATTAAAAATTA TATTATTAATATAGAATATGTGGAAATAAATATAACACTGTGATTCACAG AACTGGCTGTACTATCTTATGAATCTGCAACAAATTGTCTGTATCAAAAT TTCTTAGTCTGTAAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTT GGAGATAATGCTCTCCTCTGATCACACAGTTGTTACTTACTACCTATGTG ACCTTTGGTAAAGTATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAAT GGGAATAATCATGTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTA TGCATTTATATTAATAAAATATTAAGCACCTGTGTAACACATGTGAAGTG AAACATATGTATTTATTTTTAATGATAATAAACAATTAATGGCAACTTTG ACCAAAAAAAAAAAAAAAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(614): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGC CCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCC TCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTC CCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0206 a0001c0002t0008g0206	1	210	0.0048	621	c.273 others(638): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCC TCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTC CTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGC CCCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(614): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATATATA ATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATAATCT ATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTAT ATTATATATAATCTAGATTATATATATAATCTATATTATATAATCTATAT TATATATAATCTATATTATATATATAATCTATATTATATAATCTATATTA TATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATA TATAATATAGATTATATATATAATCTATATTATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATAATCTATATTATATATA ATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAAT ATAGATTATATATATAATCTATATTATATAATCTATATTATATATAATAT AGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0297 a0001c0002t0007g0297	1	382	0.0026	621	c.37 others(632): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATATATAATCTATATTATATATAATATAGATTATATATATAA TCTATATTATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTA TATTATATAATCTATATTATATATAATCTAGATTATATATATAATCTATA TTATATAATCTATATTATATATAATCTATATTATATATATAATCTATATT ATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTAT ATAATCTATATTATATATAATATAGATTATATATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAA TCTATATTATATATAATATAGATTATATATATAATCTATATTATATAATC TATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTA TATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(614): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATACTATATATATACTATATATATAGTTTATATATATACTA TATATATAGTTTATATATATACTATATATATAGTTTATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATATACTATATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATACTATATATATA GTTTATATATATATATACTATATATAGTTTATATATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATACTATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	304	0.0033	621	c.331 others(640): Show c.3314-1170_3314-1169insATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATATATAAACTATATATAGTATATATATATATAAACTATA TATATAGTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATATAGTATATATATAT ATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTAT ATATATATATACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAGTATATATAAACTATAT ATATAGTATATATATAGTATATATATACTATATATAGTATATATATATAA ACTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTA TATATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(614): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	298	0.0034	621	c.202 others(638): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(614): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	391	0.0026	621	c.36 others(632): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	T T	TCCTCCGC others(614): Show TCCTCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGACTGACC TCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTC CGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCG CACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCA CCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACC CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGA CTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGC GACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGA CCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGTGACC TCCGCACCCAGCGTGGCCGCGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	266	0.0038	621	c.460 others(638): Show c.460-4769_460-4768insTCGCGGCCACGCTGGGTGCGGAGGTCAC GGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGG CCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCC ACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACG CTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACACT GGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGG GTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTG CGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGA GGTCGCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGG TCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGGTC GCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGGTCAG TCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970645	C C	CAGCGTGG others(614): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGA CTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGC GACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGA CCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACC TCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGCGTGGCCGCGACCTC CGCACCCAGCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGC ACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCAC CCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCC AGCGTGGCCGCGACCTCCCCACCCAGTGTGGCCGTGACCTCCGCACCCAG TGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	266	0.0038	621	c.460 others(638): Show c.460-4900_460-4899insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACACTGGGTGGGGAGGTCGCGGCCACGCTGGGTGC GGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGG AGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAG GTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTGCGGAGGTC GCGGCCACGCTGGGTGCGGAGGTCACGGCCACACTGGGTGCGGAGGTCGC GGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGG CCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCC ACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACG CTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACACT GGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGG GTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTG CGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18950.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0228 a0001c0001t0001g0173 a0001c0001t0001g0228	2	330	0.0061	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TAAATATATATAATTATATATATAAAATTATATATATAATTATATATAAT ATATATAATTATATATATAATTTTATATATATATATAATTATATATATAT AAATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTATATATATAATTTTATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	330	0.0030	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATAAAATTATATATATAATTATATATATAATTATATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAAAATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATAATATATATATATAATTATATATAATATATA TATAATTATATATATAATTTTATATATATATATAATTATATATATATATA TAAATATATATAATTATATATATAAAATTATATATATAATTATATATAAT ATATATAATTATATATATAATTTTATATATATATATAATTATATATATAT AAATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02293.hp1 HG01123.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0147 a0001c0001t0020g0148 a0001c0001t0001g0147 a0001c0001t0020g0148	2	330	0.0061	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAAAATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATAATATATATATATAATTATATATAATATATA TATAATTATATATATAATTTTATATATATATATAATTATATATATATATA AATATATATAATTATATATATAAAATTATATATATAATTATATATAATAT ATATAATTATATATATAATTTTATATATATATATAATTATATATATATAA ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGGTGGGGTGGAGTGG GGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGC AGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	284	0.0035	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0268 a0001c0001t0024g0268	1	284	0.0035	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	284	0.0035	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCCACCCCTCCCCCACCCCACC CCCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCC CCCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0261 a0001c0001t0018g0261	1	284	0.0035	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGGAAGGGTGC AGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	284	0.0035	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCTC others(614): Show CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	256	0.0039	621	c.-45 others(642): Show c.-455+14579_-455+14580insCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(614): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	256	0.0039	621	c.-45 others(642): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(614): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATAT ATATATAATTTATATATAAATATATAAAATTATATATAAATATATATAAT TTATATATAAATATATATAATTTATATATATAAATAGATATAATTTTATA TATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTAT ATATAAAAATTTATATACAAATATATATAAATATATACAAATATATATAA ATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	116	0.0086	621	c.56- others(638): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATAATATATATAATT TTATATATTATATATAAATATATATATAATTTATATATAAATATATAAAA TTATATATAAATATATATAATTTATATATAAATATATATAATTTATATAT ATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTA TATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(614): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATAATATATATATAACATATATATAAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATAATATATATATAACATTTATAATATATATATAACATATA TATAATATATATATAACATATATATATTATATATATAACATATATATATT ATATATATATAACATATATATAATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATTATATATATAACA TATATATTATATATATAACATATATATTATATATATAACATATATATAAT ATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	232	0.0043	621	c.358 others(640): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATAACATATATATATAATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATAATATATATAT AACATATATATAATATATATAACATATATATAATATATATATAACATATA TATATTATATATATAACATATATATAATATATATATAACATTTATAATAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATATTATATATATATAACATATATATAATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TTATATATATAACATATATATTATATATATAACATATATATTATATATAT AACATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(614): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATAATATATATATAACATATATATAAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATAATATATATATAACATTTATAATATATATATAACATATA TATAATATATATATAACATATATATATTATATATATAACATATATATATT ATATATATATAACATATATATAATATATATAACATATATATATAATATAT ATATAACATATATATATTATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATTATATATATAACA TATATATTATATATATAACATATATATAATATATATAACATATATATAAT ATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01993.hp1 HG01106.hp1 HG01361.hp2 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0007t0001g0155 a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0007t0001g0155	3	232	0.0129	621	c.358 others(640): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATAACATATATATATAATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATAATATATATAT AACATATATATAATATATATAACATATATATAATATATATATAACATATA TATATTATATATATAACATATATATAATATATATATAACATTTATAATAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATATTATATATATATAACATATATATAATATATATAACATA TATATATAATATATATATAACATATATATATTATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TTATATATATAACATATATATTATATATATAACATATATATAATATATAT AACATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(614): Show GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGA AGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAG GGAGGGGAGAAAAAGGGAGGGGAGAAGAAGGGAGGAGAGGGGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAAGGGA GGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGG GGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGG GGCGAAGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	621	c.158 others(638): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCTTCGCCCCTCCC CTCCCTGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTT CCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCTTCTTCTTCCCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCC TTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCC CTCCCCTCTCCTCCCTTCTTCTCCCCTCCCTTTTTCTCCCCTCCCTTCTT CTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCC CTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCC TTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	759059	C C	CTTCCCAT others(614): Show CTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGA CAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACCC CCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCGTTATCAAT ACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTAT CAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCA TTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCGACAGCCTT CCCATTATCAATACCCCCAACAGCCTTCCCATTATCAATACCCCCCACAA CCTTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCG ACAGCCTTCCCATTATCAATACCCCCCACAGCCTTCCTGTTATCAATACC CGCAACAGCCTCCCTGTTGTCAATACCCCCCACAGCCTTCCTGTTACCAA TACCCGCAACAGCCTCCCTGTTGTCAATACCCCCGACAGCCTTCCCATTA TCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCC ATTATCAATACCCCTGACAGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	621	c.18+ others(638): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACC CCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCGTTATCAA TACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTA TCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCGACAGCCT TCCCATTATCAATACCCCCAACAGCCTTCCCATTATCAATACCCCCCACA ACCTTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCC GACAGCCTTCCCATTATCAATACCCCCCACAGCCTTCCTGTTATCAATAC CCGCAACAGCCTCCCTGTTGTCAATACCCCCCACAGCCTTCCTGTTACCA ATACCCGCAACAGCCTCCCTGTTGTCAATACCCCCGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCC CATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	759113	C C	CTTCCCAT others(614): Show CTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCTGA CAGCCTTCCCATTATCAATACCCCCGACAGCTTTCCCATTATCAATACCC CTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAAT ACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTAT CAATACCCCCCACAACCTTCCCATTATCAATACCCCTGACAGCCTTCCCA TTATCAATACCCCCGACAGCTTTCCCATTATCAATACCCCTGACAGCCTT CCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAACAG CCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCG ACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACC CCCCACAACCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAA TACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTA TCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCTGACAGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	621	c.18+ others(638): Show c.18+21307_18+21308insCCACAACCTTCCCATTATCAATACCCCT GACAGCCTTCCCATTATCAATACCCCCGACAGCTTTCCCATTATCAATAC CCCTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCA ATACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCATTATCAATACCCCTGACAGCCTTCC CATTATCAATACCCCCGACAGCTTTCCCATTATCAATACCCCTGACAGCC TTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAAC AGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCC CGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATA CCCCCCACAACCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATC AATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCAT TATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTC CCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(614): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACCACCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCA CCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCA TCATCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACC ACCACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCAC CAGCACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACAC CACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0002 a0002c0002t0029g0002	1	38	0.0263	621	c.113 others(640): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAACCTCTAC CACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCA ACCCATCATCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCT CCACCACCACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACC ACCACCAGCACCACTATCACCACTATCACCACCACCCCCACCATCACCTC CACACCACCTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGAGACGGTGGGAGGTGGTGG GAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGG GAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAGA CGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	364	0.0028	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCAC CATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACC TCCCACCGTCTCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02055.hp1 others(20): Show HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG03486.hp1 HG03834.hp2 NA18941.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0003 a0001c0007 a0001c0021 others(3): Show a0001c0003 a0001c0007 a0001c0021 a0002c0001 a0005c0019 a0008c0020	a0001c0003t0001 a0001c0007t0001 a0001c0021t0001 others(3): Show a0001c0003t0001 a0001c0007t0001 a0001c0021t0001 a0002c0001t0002 a0005c0019t0001 a0008c0020t0001	a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0091 others(9): Show a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0091 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0007t0001g0096 a0001c0007t0001g0097 a0001c0021t0001g0102 a0002c0001t0002g0041 a0005c0019t0001g0100 a0008c0020t0001g0101	23	364	0.0632	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02970.hp2 HG01515.hp2 HG01517.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	3	364	0.0082	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGATGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02257.hp2 others(10): Show HG00741.hp2 HG01243.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02809.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0008 a0001c0003t0001g0066 a0001c0003t0001g0092 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0066 a0001c0003t0001g0092 a0001c0003t0001g0103 a0001c0005t0001g0014	13	364	0.0357	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCATCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(614): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATTATATATTATATATT ATATATAATATATAATTATATGTTATATATTATATATATTATATATTATA TATATATTATATATATAATATATATTATATATTAAATTATATATAATATA TATTATATATATAATTTATATATATAAAATATATTATATATTATATAAAT ATATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGA AATGTATATTATATAATATATAATTATATATAATTATATATTATATAATA TATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATA AATATATATTATATACTATATAATGCATTATAAATATATTATATTTATAT ATTATAAATATATTACATATTTATATATTATATATATAATATATATATTA TATATTATAAATATATTTTATAAAATATAATATATATATTATTATTATAT TTTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	220	0.0046	621	c.551 others(640): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATAATAATATATATATTATATTTTATAAAATATATTTATAATATATAAT ATATATATTATATATATAATATATAAATATGTAATATATTTATAATATAT AAATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATA ATATATTTATATATTATACATTATAAATATATAATATAGAAATATATATT ATATAATATATAATTATATATAATTATATATTATATAATATACATTTCTA TATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTT ATATAATATATAATATATTTTATATATATAAATTATATATATAATATATA TTATATATAATTTAATATATAATATATATTATATATATAATATATATATA ATATATAATATATATAATATATAACATATAATTATATATTATATATAATA TATAATATATAATTATATATAATATATTATATTTTATATAATATATATAA TATATAATATATTATATATTATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(614): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG01884.hp1 others(2): Show HG00738.hp1 HG01433.hp1 HG01884.hp1 HG01975.hp2 HG06807.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0002 a0002c0001 a0002c0022 others(2): Show a0001c0002 a0002c0001 a0002c0022 a0002c0068 a0010c0015	a0001c0002t0001 a0002c0001t0001 a0002c0022t0001 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0022t0001 a0002c0068t0001 a0010c0015t0001	a0001c0002t0001g0189 a0002c0001t0001g0187 a0002c0022t0001g0116 others(2): Show a0001c0002t0001g0189 a0002c0001t0001g0187 a0002c0022t0001g0116 a0002c0068t0001g0040 a0010c0015t0001g0142	5	208	0.0240	621	c.282 others(640): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(614): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG01952.hp2 HG01167.hp2 HG01261.hp2 HG01952.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0196 a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0196	3	208	0.0144	621	c.282 others(640): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAG TCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTAT ACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
GBF1_chr10_102240532_102387896	102280519	T T	TAACAGAG others(614): Show TAACAGAGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGTAGCCCAGAGGTCCTTTATTTTTTTTTTTAACACCTATTATGC CATGAATTCATAGGGAATAGGTTCCAGCAGCTCAGGCTCCTTCCCATTGG TTCTCACAAAGTGTGCTTCTCTGGGTGGAGCAGGCTGGCGCTTTAGTTGA ACCCAGGTACCTTTCTCTTTGGCTTCTTTCTTTTTCTGATCATTTTCCTT CACACGTTTCAGGAAGCTATCTCGGCTCTTAGAGTGCTTAATGTGCTCAA TACGCACATTAATTCTCTTGGCAAGAATCTTGCCCTTAACTTGTTTGTTT ACAACAATGCCAACAGCATGCTGGGTAACATTGTAGACTCTTCCAGTTTT GCCATGGTAACACTTGTGGGGCATTCCTTTTTGAACAGTACCCATTCCCT TGATGTCTACAATATCACCTTTCTTATAGATTCGCATATATGTGGCCAAA GGAACAACTCCATGTTTTCTAAAAGGCCTAGAGAACATATATCGGGTGCC TCTCCTCTTTCCCTTTGTGTTCGTCATTTTGGCGAATTACTGGAAGATGG CGGTTCCGGCCGAAAGGAAAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	330	0.0030	621	c.163 others(640): Show c.163+20418_163+20419insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGTAGCCCAGAGGTCCTTTATTTTTTTTTTTAACACC TATTATGCCATGAATTCATAGGGAATAGGTTCCAGCAGCTCAGGCTCCTT CCCATTGGTTCTCACAAAGTGTGCTTCTCTGGGTGGAGCAGGCTGGCGCT TTAGTTGAACCCAGGTACCTTTCTCTTTGGCTTCTTTCTTTTTCTGATCA TTTTCCTTCACACGTTTCAGGAAGCTATCTCGGCTCTTAGAGTGCTTAAT GTGCTCAATACGCACATTAATTCTCTTGGCAAGAATCTTGCCCTTAACTT GTTTGTTTACAACAATGCCAACAGCATGCTGGGTAACATTGTAGACTCTT CCAGTTTTGCCATGGTAACACTTGTGGGGCATTCCTTTTTGAACAGTACC CATTCCCTTGATGTCTACAATATCACCTTTCTTATAGATTCGCATATATG TGGCCAAAGGAACAACTCCATGTTTTCTAAAAGGCCTAGAGAACATATAT CGGGTGCCTCTCCTCTTTCCCTTTGTGTTCGTCATTTTGGCGAATTACTG GAAGATGGCGGTTCCGGCCGAAAGGAAAACAACAGAGTTATTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(614): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATAATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAAT ATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATAT TTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATAT AAATATATATAAATATACATGTATATTTATTCACATATAAATATATATAA ATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	208	0.0048	621	c.-97 others(638): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATAATTTATTCATATAT AAATATATATAAATATACATGTATATTTATTCATATATAAATATATATAA ATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTAT ATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCACATATAAATATATATAAATATACATGT ATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCAC ATATAAATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HELZ2_chr20_63553086_63579239	63566523	G G	GGGCACCC others(614): Show GGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGG GCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGC AGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCAC CAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGAC AAGGAGACGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGA GGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGA TGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCA CCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCAC CCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGAC TCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGC TCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGA GACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGGCGCAGTGAGGACT GGGCCACCCCCGACAAGGAGAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19057.hp2 NA18943.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0099 a0002c0002 a0002c0099	a0002c0002t0063 a0002c0099t0007 a0002c0002t0063 a0002c0099t0007	a0002c0002t0063g0037 a0002c0099t0007g0038 a0002c0002t0063g0037 a0002c0099t0007g0038	2	390	0.0051	621	c.251 others(636): Show c.2515-71_2515-70insGTCTCCTTGTCGGGGGTGGCCCAGTCCTCA CTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTC GGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTG GGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCG TCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTAGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04204.hp1 HG00099.hp1 HG04204.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0106 a0002c0005t0011 a0002c0005t0106	a0002c0005t0011g0324 a0002c0005t0106g0277 a0002c0005t0011g0324 a0002c0005t0106g0277	2	390	0.0051	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCTAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(87): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02738.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0002 a0005 a0011 others(13): Show a0002 a0005 a0011 a0012 a0018 a0019 a0020 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0062	a0002c0002 a0002c0005 a0002c0015 others(23): Show a0002c0002 a0002c0005 a0002c0015 a0002c0091 a0002c0097 a0002c0098 a0002c0100 a0002c0108 a0005c0007 a0011c0028 a0011c0104 a0012c0027 a0012c0101 a0018c0030 a0019c0029 a0020c0106 a0020c0107 a0039c0092 a0040c0093 a0041c0103 a0042c0102 a0043c0096 a0044c0109 a0045c0095 a0046c0094 a0062c0047	a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 others(48): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0017 a0002c0002t0018 a0002c0002t0022 a0002c0002t0031 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0064 a0002c0005t0005 a0002c0005t0006 a0002c0005t0011 a0002c0005t0017 a0002c0005t0018 a0002c0005t0059 a0002c0005t0065 a0002c0015t0007 a0002c0015t0022 a0002c0091t0005 a0002c0097t0017 a0002c0098t0005 a0002c0100t0005 a0002c0108t0033 a0005c0007t0005 a0005c0007t0007 a0005c0007t0032 a0011c0028t0027 a0011c0104t0021 a0012c0027t0021 a0012c0027t0022 a0012c0101t0007 a0018c0030t0021 a0018c0030t0033 a0019c0029t0006 a0019c0029t0011 a0020c0106t0017 a0020c0107t0006 a0039c0092t0007 a0040c0093t0027 a0041c0103t0007 a0042c0102t0066 a0043c0096t0067 a0044c0109t0034 a0045c0095t0005 a0046c0094t0034 a0062c0047t0017	a0002c0002t0005g0006 a0002c0002t0005g0032 a0002c0002t0005g0270 others(74): Show a0002c0002t0005g0006 a0002c0002t0005g0032 a0002c0002t0005g0270 a0002c0002t0005g0279 a0002c0002t0005g0282 a0002c0002t0005g0314 a0002c0002t0006g0031 a0002c0002t0006g0033 a0002c0002t0006g0311 a0002c0002t0007g0007 a0002c0002t0007g0332 a0002c0002t0011g0273 a0002c0002t0011g0312 a0002c0002t0011g0333 a0002c0002t0017g0313 a0002c0002t0018g0340 a0002c0002t0022g0306 a0002c0002t0022g0310 a0002c0002t0031g0036 a0002c0002t0057g0305 a0002c0002t0058g0307 a0002c0002t0060g0304 a0002c0002t0061g0308 a0002c0002t0062g0309 a0002c0002t0064g0286 a0002c0005t0005g0029 a0002c0005t0005g0272 a0002c0005t0005g0346 a0002c0005t0006g0030 a0002c0005t0006g0041 a0002c0005t0006g0276 a0002c0005t0006g0299 a0002c0005t0006g0303 a0002c0005t0006g0336 a0002c0005t0006g0337 a0002c0005t0011g0297 a0002c0005t0011g0302 a0002c0005t0011g0338 a0002c0005t0017g0335 a0002c0005t0018g0300 a0002c0005t0018g0301 a0002c0005t0059g0285 a0002c0005t0065g0284 a0002c0015t0007g0028 a0002c0015t0007g0278 a0002c0015t0022g0281 a0002c0091t0005g0290 a0002c0097t0017g0298 a0002c0098t0005g0342 a0002c0100t0005g0283 a0002c0108t0033g0280 a0005c0007t0005g0035 a0005c0007t0005g0339 a0005c0007t0007g0317 a0005c0007t0007g0318 a0005c0007t0032g0034 a0011c0028t0027g0319 a0011c0028t0027g0320 a0011c0104t0021g0043 a0012c0027t0021g0291 a0012c0027t0022g0292 a0012c0101t0007g0315 a0018c0030t0021g0330 a0018c0030t0033g0331 a0019c0029t0006g0322 a0019c0029t0011g0323 a0020c0106t0017g0321 a0020c0107t0006g0274 a0039c0092t0007g0293 a0040c0093t0027g0294 a0041c0103t0007g0316 a0042c0102t0066g0104 a0043c0096t0067g0341 a0044c0109t0034g0329 a0045c0095t0005g0295 a0046c0094t0034g0296 a0062c0047t0017g0287	90	390	0.2308	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAGCGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0047 a0047	a0047c0105 a0047c0105	a0047c0105t0021 a0047c0105t0021	a0047c0105t0021g0271 a0047c0105t0021g0271	1	390	0.0026	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0289 a0005c0007t0005g0289	1	390	0.0026	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(614): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCA CCACTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18973.hp2 NA18999.hp1 HG02735.hp2 NA18973.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0051 a0001c0001t0001g0227 a0001c0001t0001g0237	3	314	0.0096	621	c.-25 others(638): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCATCACCATCATCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACC ACCACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(614): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTTCATCACCACTACCCCCACCA CTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACC ACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCA CCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02818.hp2 others(4): Show HG02055.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0098 a0001c0001t0002g0195 a0001c0002t0002g0142 others(4): Show a0001c0001t0002g0098 a0001c0001t0002g0195 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0003g0118 a0001c0002t0004g0246 a0001c0002t0005g0004	7	274	0.0256	621	c.804 others(638): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(614): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp2 NA18950.hp1 HG00621.hp1 NA18941.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0021 a0001c0003t0002 a0002c0001t0021	a0001c0003t0002g0169 a0002c0001t0021g0163 a0002c0001t0021g0164 a0001c0003t0002g0169 a0002c0001t0021g0163 a0002c0001t0021g0164	3	282	0.0106	621	c.623 others(638): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(614): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGC CCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCC TCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTC CCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	276	0.0036	621	c.65 others(632): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGAGGAGAGGAGGAAGTGGGAGGAGGAGGAGAGAAGAG GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGAG GATGAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTCATCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCTTCTCTCCT CCTCCTCCCACTTCCTCCTCTCCTCCTCCTCTTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGAGGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAGAAGGGAGGAAGGAGGGGGAGGAGGAGAGGA AAGAGTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	386	0.0026	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCCTTCTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTC CTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCCTCCTTCCTCTCCTCCTCCTCCCCTCCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC CTCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGA GGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGA AGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGG AGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp2 NA19079.hp1 NA18998.hp1 NA18998.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0013g0123 a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0013g0123	3	386	0.0078	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229292	C C	CCACTCAC others(614): Show CCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAA AGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCAC CCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCTGAGAGATCCCTCTCCACCCCGCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCCAACCACCACTCACCCTAAAGATCCCT CCCCATCCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCCCCATCC CCCCCCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACT CACCTGAGATCCCTCTCCACCCCCGCCATCACCACTCACCTGAAAGATCC CTCTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTCCCCATC CCCCCCCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACTCACCCGAA AGATCCCTCTCCATGCCCCCCCACCACCAAACACTCACCTGAAAGATCCC TCTCCACCCCCCCACCACCAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA19057.hp1 others(1): Show NA18747.hp1 NA18951.hp1 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0146 a0001c0004t0149 a0001c0004t0054 a0001c0004t0146 a0001c0004t0149	a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0146g0053 others(1): Show a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0146g0053 a0001c0004t0149g0063	4	398	0.0101	621	c.64+ others(638): Show c.64+11347_64+11348insTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGGG TGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTG ATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGGGGGGGATGGG GAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCT TTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCAGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGGGGGGGATGG GGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGATGGGGAGGGAT CTTTAGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGT GTTTGGTGGTTGCGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGG TGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LUC7L_chr16_183990_234449	186527	G G	GGAGGAAC others(614): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	350	0.0029	621	c.26 others(632): Show c.2670_*2671insTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC TCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2462		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(614): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTA AATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATA TATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGT ATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATA TAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATA TAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATA TATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATA TAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTA AATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19084.hp2 NA18951.hp1 NA19084.hp2	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0035 a0020c0023t0002g0039 a0020c0023t0002g0035 a0020c0023t0002g0039	2	330	0.0061	621	c.197 others(640): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA TTTACAAAATATGTATATATTTATATATATTTACAAAATATATATATATT TACAAAATATATATATTTATATATTTACAAAATATATATATTTTTATATA TTTACAACATATATTTTTATATATTTACAAAATGTATATATTTTTATATA TTTACAAAATGTATATATTTATATATTTACAAAATGTATATATTTACAAA ATATATATACATATTTACAAAATATATATATTTACAAAATATATATACAT ATTTACAAAATATATATATTTACTATATATATTTACAAAATATATATATA ATTTACAATATATATATAATTCACAAAATATATATTTATATATATTTACA ATATATATTTACAAAATATATATATATTTACAAAATATATATTTATATAT TTACAAAACATATATATATTTATATATATTTACAAAACATATATATTTAT ATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATTT ATATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar

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Search Results (Total: 10000 hits)