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
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 NA18946.hp1 others(3): Show HG01934.hp1 HG01943.hp1 NA18946.hp1 NA18973.hp2 NA18995.hp2 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0015 a0003c0005 a0001c0001 a0001c0015 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 a0003c0005t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0263 others(3): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0263 a0001c0001t0003g0062 a0001c0015t0001g0151 a0003c0005t0001g0157	6	264	0.0227	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATATATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	264	0.0038	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATATATAAATATATATATATTTATATATTTATAAATATATA TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(652): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATATATGTATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAAAAATATATATAAATATATATGT AAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATAT ATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATAT ATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTAT ATATAAATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	264	0.0038	659	c.181 others(678): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATATATAAATATATATATATTTATATATTTATAAATACATA TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(652): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0004 a0004c0017t0001g0004	1	344	0.0029	659	c.85- others(676): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924204	C C	CCCCCACA others(652): Show CCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAC CCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACT GACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCAC ACTAATCCGGCCCCCAACACTAACCCGGCCCCCACACTGACCCAGCCCCC ACACTGACCCAGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCC CACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACACTAACCCAGT CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACA CTAACCCTAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0266 a0008c0008t0002g0266	1	350	0.0029	659	c.489 others(676): Show c.489-1506_489-1505insAGTCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCC ACACTACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCC CCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTAATCCGGCCCCCAACACTAACCCGGCCCCCACACTGACCC AGCCCCCACACTGACCCAGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACACTA ACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCTCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGC CCCCACACTAACCCTAACCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(652): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0012 a0002c0003t0011g0013 a0002c0003t0011g0012 a0002c0003t0011g0013	2	288	0.0069	659	c.-7- others(674): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC CTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1164098	A A	AGATTTTT others(652): Show AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACA GATTTTTCTGTGAGCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTG ATTGTGAGCCCCCCAGGGTTTGTTTTCGTTTGTGGGGACAGATTTTTCTG TGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCC CCCCACGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAG GGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCCA GGGCCCCTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCC CGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCG TCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCCGTCATT TTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCGTTTT GGTTTGTGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	659	c.74- others(676): Show c.74-94736_74-94735insCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGG GACAGATTTTTCTGTGAGCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGG ACTGATTGTGAGCCCCCCAGGGTTTGTTTTCGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTG AGCCCCCCACGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCC CCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCC CCCAGGGCCCCTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAG GGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGG CCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCCGT CATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCG TTTTGGTTTGTGGGGATTTTTCTGTGAGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(652): Show GTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGT GGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	170	0.0059	659	c.86- others(672): Show c.86-495_86-494insGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAATTGTGGTGTCGT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FLT4_chr5_180596506_180654600	180635669	A A	AAGTATGG others(652): Show AAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTG GATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGG TGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGG TGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGG TGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATG TATGGAAGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGA TGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATG GATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCA TGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATG CATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGATGGGTGGGTGAG TGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGGTG GGTGGGTAGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0015 a0004c0007t0001g0015	1	388	0.0026	659	c.59- others(674): Show c.59-3892_59-3891insCCTACCCACCCACCCATCCACCCATCCACC CATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACCCA TCCACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACC CACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCA CCCATCCACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACC CACCCACCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCA CCCATCCACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATC CACCCACCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCA CCCATACTTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATC CACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCA TACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATC CATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCA TCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTCATCCATCC ATCCGTCCACCCACCCATCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(652): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0090 a0001c0001t0026g0090	1	188	0.0053	659	c.109 others(680): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRM3_chr7_86638909_86869879	86655539	C C	CAAAAATT others(652): Show CAAAAATTAGTATGCCTAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACATAACGGA ATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTATGCAGCCA TAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGAACTGGAA GCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAACACCGCA TGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGGACACAGG GAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGGGAGGAGG GAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATACCTAGGTG ATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTATGTAACA AACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAACAATGCA CAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAAAGGTTTC TTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	216	0.0046	659	c.-14 others(680): Show c.-141+10685_-141+10686insCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACA TAACGGAATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTAT GCAGCCATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGA ACTGGAAGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAA CACCGCATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGG ACACAGGGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGG GAGGAGGGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATAC CTAGGTGATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTA TGTAACAAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAA CAATGCACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAA AGGTTTCTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATTAGTATGCCTAG	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBQ1_chr16_175459_186179	186042	G G	GACACGGG others(652): Show GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG AGGAACAGCGACACGGAGGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	659	c.49 others(670): Show c.4934_*4935insACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG AGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGAGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGAG GGAACAGCGACACGGGGGGAACAGC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4864		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(652): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATAAATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGTAT ATATGGAACATATATACATATATGTATATATGGAACATATATACATATAT GGAACCAATACACATATGGAACATACACATGTGGAACCAATACACATATG GAACATATATATGTGGAACCAATACACATATGCAACATATATATGTGGAA CCAATACACATATGCAACATATATATGTGGAACCAATACACATATGCAAC ATATATATGTGGAACCAATACACATATGCAACATATATATGTGGAACCAA TACACATATGCAACATATATATGTGGAACCAATACACATATGCAACATAT ATATGTGGAACCAATACACATATGGAACATATATATGTGGAACCAATACA CATATGGAACATATATATGTGGAACCAATACACATATGGAACATATATAT GTGGAACCAATACACATATGGAACATATATATGTGGAACCAATACACATA TGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	323	0.0031	659	c.-36 others(670): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATAAATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGGAACCAATACACATATGGAACATACACATGTGGA ACCAATACACATATGGAACATATATATGTGGAACCAATACACATATGCAA CATATATATGTGGAACCAATACACATATGCAACATATATATGTGGAACCA ATACACATATGCAACATATATATGTGGAACCAATACACATATGCAACATA TATATGTGGAACCAATACACATATGCAACATATATATGTGGAACCAATAC ACATATGCAACATATATATGTGGAACCAATACACATATGGAACATATATA TGTGGAACCAATACACATATGGAACATATATATGTGGAACCAATACACAT ATGGAACATATATATGTGGAACCAATACACATATGGAACATATATATGTG GAACCAATACACATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(652): Show CAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTC CAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGG AAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAA ATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAAT TGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTT TGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTC CAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAG AAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGT GGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCAT CTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAA TCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGG TGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAA GGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01256.hp1 HG01884.hp2 others(8): Show HG01074.hp1 HG01256.hp1 HG01884.hp2 HG01993.hp2 HG02109.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 NA19058.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0197 others(8): Show a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0197 a0001c0001t0002g0210 a0001c0001t0002g0240 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0016g0178	11	286	0.0385	659	c.52 others(670): Show c.5260_*5261insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(652): Show CAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTC CAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGG AAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAA ATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAAT TGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTT TGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTC CAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAG AAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGT GGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCAT CTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTC TCTACTAAAAATACGAAATTACCTGGGCATGGTGGCACATGCACCTGTAA TCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGG TGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAA GGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02280.hp1 others(8): Show HG01109.hp1 HG02055.hp1 HG02280.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03486.hp2 HG06807.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0033 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0023g0031	11	286	0.0385	659	c.52 others(670): Show c.5260_*5261insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTCGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(652): Show CAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTCC AGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGGA AAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAAA TGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAATT GTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTTT GGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTCC AATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAGA AATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGTG GCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCATC TGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAAT CCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGGT GGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAAG GCTCTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	286	0.0035	659	c.52 others(670): Show c.5260_*5261insTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGG TGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTC CTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATG CCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGAC AGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCC AACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTT ATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATC TCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCA AATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTG TATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCA TGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCAC TTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAG ACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCC ATCATCCACTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982662	A A	AAAAAAAA others(652): Show AAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTC CAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGG AAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAA ATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAAT TGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTT TGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTC CAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAG AAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGT GGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCAT CTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAA TCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGG TGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAA GGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	286	0.0035	659	c.52 others(670): Show c.5258_*5259insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1057		chrX	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(652): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGG TGAGGGTGATGATGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATG GTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAAT GACGGTGGGGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGGGG TGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATG GTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGAT GGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGG TGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03704.hp2 HG00140.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0001g0096 a0001c0001t0001g0142	2	186	0.0108	659	c.956 others(676): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCAT CACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCATCGTCA TCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATTACCCCCACCCCACCGTCATTACCCCCACCCCCACC CCCACCATCACCCCCACCATCATCACCCTCACCATCATCACCCCCACCAT CACCATCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCA CCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(652): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATG GTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGT GGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGG TGATGACGATGATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACG GTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATG GTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGAT GGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGG TGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	186	0.0054	659	c.956 others(676): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCAT CATCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATTACCCCC ACCCCACCGTCATTACCCCCACCCCCACCCCCACCATCACCCCCACCATC ATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCCACCAT CATCACCCTCACCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTA CCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(652): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGT CCACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCC TGTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCAC CCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCC CCTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATC CGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGT CCAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCC ACCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCC TGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCAC CCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCCACCCGTCCCCCTGTC CAGCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCA CCTGTCCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACC GGACCGTCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	294	0.0034	659	c.664 others(676): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGGACAGGTGGGCGGACGGTCCAGTG GACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGG GTGGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGAC AGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGA CGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGG GGGACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGG GCGGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGAC AGGAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAA TGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGG ACATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGC GGATAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894234	T T	TCCCCCTG others(652): Show TCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCTGTCCACCGGAC CGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCCACCTGTCCC CCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCCTGTCCACCT GGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCACCCACCCGTC CCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCCTGTCCCCTGTCCA CCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGCCCACC CATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCAGCAGA ACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCC CCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCCTGTCCACC TGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCACCCACCCGT CCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCCAGCGGACC GTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCACCTGTCCCC CTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGGACCGTCCA CCCACCCGTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0015 a0015	a0015c0066 a0015c0066	a0015c0066t0001 a0015c0066t0001	a0015c0066t0001g0153 a0015c0066t0001g0153	1	294	0.0034	659	c.664 others(676): Show c.664-1163_664-1162insGACGGGTGGGTGGACGGTCCGGTGGACA GGGGATGGGTGGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGAC GGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGG ACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTC CAGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGG TGGGCAGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAG TCCAGTGGACAGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGAC GGGTGGGTGGACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGG TGGACAGGGGGACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGG GACAGGTGGGCGGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGT CCGGTGGACAGGAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGG GTGGGCGAATGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACG GTCTGATGGACATGGGGACGGGTGGGCGGACGGTCCGGTGGACAGGGGGA CGGGTGGGCGGATAGTCCAGTGGACAGGGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCCCT others(652): Show CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCCTCTCCTCCCCTC CCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCT CTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTACCCTCTCTCCTCCGCTCCCCTCCCCTC TCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTC CCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTC CTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTC TCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTC TCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCTCC TCTCCTCTCTCCTCCCCTCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	318	0.0031	659	c.-49 others(670): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGAGGGGAGGAGAGAGGAGAGGAGGGAGAGGAGTGGAGGAGAGA GGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGAGG GGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGC AGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGA GGGTAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGA AGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGA GGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCCCT others(652): Show CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCT CTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCT CCTCTCTCCTCCCCTCCCCTACCCTCTCTCCTCCGCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTC CTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCT CTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0116 a0001c0006t0002g0117 a0001c0006t0002g0116 a0001c0006t0002g0117	2	318	0.0063	659	c.-49 others(670): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGTAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(652): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGG GGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGA AGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGG AGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	272	0.0037	659	c.250 others(674): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTT CCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(652): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCTCTCCCCTCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCTCCTCCCTCCCCTCCTCCCTCCTCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCC CTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCC TCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCC CCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	140	0.0071	659	c.114 others(678): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCTCCCCT CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCTCCCCTCCTCCC TCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCAT CCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(652): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATAAAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATATAAATATAAATATATAAATATATATATATAATTATAT ATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATT TAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAAT ATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTT TGGTTATATG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	312	0.0032	659	c.293 others(678): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAAAATATATAAAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGA TTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGA TAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATT ATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATA TAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAAT ATATAAATATAAATATATAAATATATATATATAATTATATATATATATTT AGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCT GGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATAT AAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG TATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(652): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCG ATGGTGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGG TGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGC AGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTAATGATGGTGGTGACC ATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGT GGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0073 a0001c0001t0028g0073	1	384	0.0026	659	c.160 others(676): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATC ACCACCACCACCATCGCCGCCACCACCACCACCACCACCACCACCACCAC CACCACTACCACCACCACCACCACCACCACCATCACCACCACCACCACTA CCACCACCACCATCACCACCACCACCACTACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCGCCACCACCACCACCACCACCATCGCCGCCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCA CTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACC ACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYT1_chr20_64159452_64247253	64175431	T T	TAGCATCT others(652): Show TAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTC TTCTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTC CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGT CTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGG CTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTC CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTCTTCTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01074.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	223	0.0090	659	c.-99 others(678): Show c.-99+10720_-99+10721insTCCCCTCCCTGGCTTCTCCTCTTCTA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CTTCTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
PAK2_chr3_196734857_196837647	196811315	T T	TTCCCTCC others(652): Show TTCCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCCTCCCTTCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCC TTCCTTCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTTCCTT CCTTCCTTCCCTTCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCTT CCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTC CCGCCCTTCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	178	0.0056	659	c.773 others(674): Show c.773+663_773+664insCCCTCCCTTCCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT TCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCTTTTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTC CCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTT CCTTCCTTCCTTCCCTTCCCGCCCTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(652): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTAT ATATTATTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03209.hp1 HG02486.hp1 HG02622.hp2 HG03209.hp1	a0002 a0006 a0015 a0002 a0006 a0015	a0002c0021 a0006c0006 a0015c0013 a0002c0021 a0006c0006 a0015c0013	a0002c0021t0021 a0006c0006t0010 a0015c0013t0003 a0002c0021t0021 a0006c0006t0010 a0015c0013t0003	a0002c0021t0021g0047 a0006c0006t0010g0030 a0015c0013t0003g0035 a0002c0021t0021g0047 a0006c0006t0010g0030 a0015c0013t0003g0035	3	102	0.0294	659	c.595 others(676): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATATTATATATAATAATATA TAATATAGATTATATTATATTATATATAATAATATATAATATAGATTATA TTATATTATATATAATAATATATAATATAGATTATATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATAATATATAATAT AGATTATATTATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(652): Show AATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTATATATTATTATA TATAATATAATATAATCTATATTATATATTATTATATATAATATAATATA ATCTATATTATATATTATTATATATAATATAATATAATCTATATTATATA TTATTATATATAATATAATATAATCTATATTATATATTATTATATATAAT ATAATATAATCTATATTATATATTATTATATATAATATAATATAATCTAT ATTATATATTATTATATATAATATAATATAATCTATATTATATATTATTA TATATAATATAATATAATCTATATTATATATTATTATATATAATATAATA TAATCTATATTATATATTATTATATATAATATAATATAATCTATATTATA TATTATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATATAATCTATATTATATATTATTATATATAATATAATATAATCT ATATTATATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATCTATATTATATATTATTATATATAATATAATCTATATTAT ATATTATTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03209.hp2 HG02486.hp1 HG02622.hp1 HG03209.hp2	a0006 a0008 a0030 a0006 a0008 a0030	a0006c0008 a0008c0015 a0030c0028 a0006c0008 a0008c0015 a0030c0028	a0006c0008t0001 a0008c0015t0001 a0030c0028t0001 a0006c0008t0001 a0008c0015t0001 a0030c0028t0001	a0006c0008t0001g0027 a0008c0015t0001g0032 a0030c0028t0001g0044 a0006c0008t0001g0027 a0008c0015t0001g0032 a0030c0028t0001g0044	3	94	0.0319	659	c.595 others(676): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATATAATATAGATTATATTATATTATA TATAATAATATATAATATAGATTATATTATATTATATATAATAATATATA ATATAGATTATATTATATTATATATAATAATATATAATATAGATTATATT ATATTATATATAATAATATATAATATAGATTATATTATATTATATATAAT AATATATAATATAGATTATATTATATTATATATAATAATATATAATATAG ATTATATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATAATATATAATATAGATTATATTATATTATATATAATAATATA TAATATAGATTATATTATATTATATATAATAATATATAATATAGATTATA TTATATTATATATAATAATATATAATATAGATTATATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATAATATATAATAT AGATTATATTATATTATATATAATAATATATAATATAGATTATATTATAT TATATATAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PERM1_chr1_970198_987093	976715	C C	CCAACCCC others(652): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	408	0.0025	659	c.215 others(674): Show c.2150-92_2150-91insCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGTG GGGGGAGTGGGAGGCGGTTCCTGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(652): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	408	0.0025	659	c.215 others(676): Show c.2150-187_2150-186insTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	976715	C C	CCAACCCC others(652): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	422	0.0024	659	c.21 others(670): Show c.2140_*2141insCAACCCCAGGAACCGCCTCCCACTCCCCCCACAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		851		chr1	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(652): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGAGGTCGTGG GAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGG AGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGG AGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAGAC GGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGT GGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGGTG GTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	382	0.0026	659	c.-25 others(670): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCACCACCTCCCACCGTCTCCCAC CGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCACCATCTGCCAGT GTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCACTT CCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCACCT CCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGTCT CCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCACCGTCT CCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCGTCT GCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTACCT CCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207934	T T	TAGGGGCT others(652): Show TAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGG TTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT CGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCT GAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGC TGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGG AGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTC TGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGCCTGGATTCCTGGGT CTGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG03098.hp1 others(1): Show HG01891.hp1 HG02004.hp2 HG03098.hp1 HG03516.hp2	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0014	a0002c0104 a0003c0100 a0009c0106 others(1): Show a0002c0104 a0003c0100 a0009c0106 a0014c0099	a0002c0104t0001 a0003c0100t0001 a0009c0106t0002 others(1): Show a0002c0104t0001 a0003c0100t0001 a0009c0106t0002 a0014c0099t0001	a0002c0104t0001g0303 a0003c0100t0001g0299 a0009c0106t0002g0300 others(1): Show a0002c0104t0001g0303 a0003c0100t0001g0299 a0009c0106t0002g0300 a0014c0099t0001g0042	4	378	0.0106	659	c.52- others(672): Show c.52-736_52-735insCCTCCCTCAGACCCAGGAATCCAGGCCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCAGCCCCTCCTCCCTCAGACCCAGGCCCCCAGGCCCCCAGGCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACT CAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCT CCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAG GAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCC AACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCT CAGACCCAGGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGT CCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAG ACCCAGGAATCCAGACCCCCAGCCCCT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(652): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGG TGGTGGTGATAATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAAT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG04228.hp2 HG01081.hp2 HG04228.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0062 a0004c0006t0001g0064 a0004c0006t0001g0062 a0004c0006t0001g0064	2	374	0.0054	659	c.-46 others(670): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGATGATGGTGGTGGTGGTGATAATGGTGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCC GCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGA GGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGGG GAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCC GCGAGGGGAGGAGGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	67	0.0149	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCCTCGCGGCCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACACG GCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCC CACGCGCCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCC CTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACAC GCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCC CCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCC CTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACG CGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGGCCGCG TGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCG CCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAG GAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGG GGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGG AGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCG CGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGGCCGCGAGGGGAGGA GGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGC GCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCC ACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCT CCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGC CCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCCTCCTCCC CTCGCGGCCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCC CTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACG CGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAG GGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGC CGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGG AGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGC CGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGG AGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGA GGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCG CGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGGCCGCGAGGGGAGGA GGGGGGCCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	67	0.0149	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGG CGCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCC CACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCC TCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACG CCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCCC CTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCC TCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGC GGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTC CCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCC CCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(652): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGA GAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGGAGGGGGAGGGGT GGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	352	0.0028	659	c.12 others(670): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCCTCCTCT CCCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(652): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19009.hp2 HG00280.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0086 a0001c0001t0005 a0001c0001t0086	a0001c0001t0005g0302 a0001c0001t0086g0295 a0001c0001t0005g0302 a0001c0001t0086g0295	2	322	0.0062	659	c.597 others(676): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(652): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGC GAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGAGAAC GGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGG AGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAG AGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAG AGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGAGAGCGGGGTGGGAGAACGGGGTGGGAGCGGG GTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01167.hp1 others(5): Show HG00544.hp1 HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp2 HG02257.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0002c0009t0001	a0001c0001t0003g0330 a0001c0001t0004g0157 a0001c0001t0021g0069 others(5): Show a0001c0001t0003g0330 a0001c0001t0004g0157 a0001c0001t0021g0069 a0001c0002t0002g0243 a0001c0002t0003g0341 a0001c0002t0019g0309 a0001c0002t0019g0345 a0002c0009t0001g0128	8	364	0.0220	659	c.157 others(678): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCTCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCT CTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCT CCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCAC CCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(652): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGC GAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGAGAAC GGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGG AGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAG AGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAG AGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGCGGG GTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	364	0.0028	659	c.157 others(678): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCTCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCT CTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCT CCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCAC CCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(652): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACA CAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAG CAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAA TGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG TCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCC TACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGAC CTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGC TCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	314	0.0032	659	c.136 others(678): Show c.1360+6847_1360+6848insAGGTTGGCCCCCGAGCCCCATTGTCT GTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGG TTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCG TCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGG CCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGG CCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCT TCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCT GGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCC CCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTC CTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGT GTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(652): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCGTACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCC ATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATC CATCCTATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCA CCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCAC CACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCAC CCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCA TCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTG TCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCA TCCACCCATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18947.hp2 HG01934.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0214 a0001c0001t0006g0071 a0001c0001t0001g0214 a0001c0001t0006g0071	2	258	0.0078	659	c.113 others(678): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCGTACCCATCCTATCCACCCACC CACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCA TCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATC TGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCAC CCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCAC CCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCC GCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATAC ATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCC ACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM132D_chr12_129066726_129909025	129856190	G G	GGGGGAAC others(652): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTAT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCC CTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAA ACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCC TTGTAACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCG GGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGG ATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0064 a0001c0010t0005g0064	1	94	0.0106	659	c.79+ others(676): Show c.79+47070_79+47071insTGGACTCCGTTACAAGGGCACCCATCCC GTTCCCCCGGACTCCGTTACAAGGGCACCCATCCCGTTCCCCTGGACTCT GTTACAAGGGCACCCATCCCGTTCCCCCGGACTCTGTTATAAGGGCACCC ATCCCGTTCCCCCGGACTCCGTTACAAGGGCACCCATCCCGTTCCCCCGG ACTCTGTTATAAGGGCACCCATCCCGTTCCCCCGGACTCTGTTACAAGGG CAGCCATCCCGTTCCCCCGGACTCCGTTACAAGGGCACCCATCCCGTTCC CCTGGACTCTGTTACAAGGGCACCCATCCCGTTTCCCCGGACTCTGTTAC ACCCATCCCGCTCCCCCGGACTCTGTTATAAGGGCACCCATCCCGTTCCC CTGGACTCCGTTACAAGGGCACCCATCCCGTTCCCCTGGACTCCGTTACA AGGGCACCCATCCCGTTCCCCCGGACTCTGTTATAAGGGCACCCATCCCG TTCCCCCGGACTCCGTTACAAGGGCACCCATCCCGTTCCCCCGGACTCTG TTATAAGGGCACCCATCCCGTTCCCCCGGACTCCGTTACAAGGGCACCCA TCCCGTTTCCCCGGACTCTGTTACAAGGGCACCCATCCCGTTCCCCCGGA CTCCGTTACAAGGGCACCCATCCCGTTCCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(652): Show CTCTCCCCTCCCCTCTCCCCCCCGTCTCCCCTCTCCTCTGTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTT TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCTCCCCTCCCCCCTCTCCCCTCTCCCCTACCCTC TCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTC CCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCC CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	114	0.0088	659	c.-25 others(678): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCGTCTCC CCTCTCCTCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTTTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCC TCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTC TTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCC TCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCC ATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTC CCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(652): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACACACACGCACGCCACAAACGCACGCCACA CACGCACGCCACACACGCACGCCAGCCACACACGCACGCCACACACGAAC GCCACACAAACGCCACACACACGAATGCCACACGCACACCACACACGCAC GCCACACACGCACGCCACACACGCACGCCACACACAGGCATGCCACACAC ATGCACGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATG CCAAACACGCACGCCACACATGCATGCCACACACACAGGCACACCACACA CAGGCACGCCACACACACAGGCACGCCACACACATGCACGCCACACACGC ACGCCACACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	430	0.0023	659	c.961 others(674): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGT GTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTG GCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCG TGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGT GTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTGTGTGGCGT GCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(652): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATTATATATATATAAAAATTATATATATTATA TATAAAAATTATATATATATTATATATATATAAAATTATATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATATAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	272	0.0037	659	c.28 others(670): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATATAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATTATATATATATAAAA ATTATATATATTATATATAAAAATTATATATATATTATATATATATAAAA TTATATATATATTATATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATATAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar

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Search Results (Total: 10000 hits)