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
ABCB11_chr2_168915781_169036324	168975403	A A	AAATATTT others(493): Show AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG ATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAA ATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATAT TTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAAT ATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATTTTTATATTTAT AGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATAT C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0027 a0001c0002t0004 a0001c0002t0027	a0001c0002t0004g0135 a0001c0002t0027g0129 a0001c0002t0004g0135 a0001c0002t0027g0129	2	306	0.0065	500	c.130 others(519): Show c.1308+1173_1308+1174insGATATATTTATCTATAAATATAAAAA TATTTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATT TATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATA TTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAA TATTTATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATT TATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATA TATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATA AATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATA TTTATCTATAAATATAAAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(493): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0008 a0002c0004t0004g0008	1	306	0.0033	500	c.130 others(519): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(493): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0221 a0002c0028t0001g0221	1	306	0.0033	500	c.130 others(519): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(493): Show CCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTATTCTTTTCTTTTC T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	249	0.0040	500	c.49- others(515): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTATTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(493): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA19072.hp2 NA18959.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	500	c.-10 others(511): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATAAAT TTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(493): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA19005.hp2 HG01943.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	500	c.-10 others(511): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATAAAT TTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(493): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	500	c.-10 others(511): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATA TATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATAAAT TTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(493): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTC CCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCC TTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCC T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01168.hp2 others(7): Show HG00099.hp1 HG01074.hp1 HG01168.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG02148.hp1 HG02738.hp2 HG03041.hp1 NA19240.hp2	a0003 a0018 a0041 a0003 a0018 a0041	a0003c0003 a0003c0015 a0018c0063 others(1): Show a0003c0003 a0003c0015 a0018c0063 a0041c0035	a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 others(5): Show a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 a0003c0003t0090 a0003c0015t0009 a0003c0015t0087 a0018c0063t0088 a0041c0035t0091	a0003c0003t0008g0105 a0003c0003t0009g0035 a0003c0003t0009g0161 others(7): Show a0003c0003t0008g0105 a0003c0003t0009g0035 a0003c0003t0009g0161 a0003c0003t0022g0191 a0003c0003t0022g0243 a0003c0003t0090g0242 a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228 a0041c0035t0091g0239	10	262	0.0382	500	c.106 others(519): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGGAGGG AGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(493): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACACGTATACGTA TACACACATATACACGTATACGTATACACACATATACACGTATACGTATA CGTGTACACACATATACACGTATATACGTATACGTGTACACACATATACA CGTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTG TACACACATATATATACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACACG T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	169	0.0059	500	c.48- others(517): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACACGT ATACGTATACACACATATACACGTATACGTATACACACATATACACGTAT ACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACAC ATATACACGTATATACGTATACGTGTACACACATATACACGTATATACGT ATACGTGTACACACATATATATACACGTATATATACGTATACGTGTACAC ACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTAT ACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTAT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(493): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGGTGGGAGGG GAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGG AGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAG GGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGG GGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0259 a0006c0009t0001g0259	1	350	0.0029	500	c.248 others(515): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCCTCCCCCTCCCCTCCCATCCTCCC CTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCC TCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCAC CCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCC CTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACC TCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCAC CTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP19_chr10_97217179_97297637	97251782	A A	AAGGGAAG others(493): Show AAGGGAAGGGAAGGAAAGGGGAAAAGGGAAGGGGAAAAGGAAGGGAAGGG GAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGG AAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGG AAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGA GGGGAAGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAG GGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGG AAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGA CGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGG AAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	242	0.0041	500	c.927 others(517): Show c.927+4535_927+4536insCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCTCCCCTCTCTTCCCCTCCC CTCTCTTTTTTTCGTCCTGTCCGTCCATCCGTCCTTCCTTCCTCCCTCCC TCCCTCTCTTCCCTTTTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCA CTTCCCCCTCCCCTTCCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCC CTTCCCCTCCCCTTCCCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCC CTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCC TTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCT TCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTT CCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTT TTCCCCTTTCCTTCCCTTCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(493): Show CGTGACCACTCATTTACAGTGAGCACTTCCCACCCCCGTGACCACACACC AGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCC CGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACT AGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCATTTC CCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCCGTGACC ACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTG AGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	246	0.0041	500	c.-21 others(511): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GTAAATGAGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(493): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACC TGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTG CACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGT CCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACC T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	363	0.0028	500	c.-48 others(517): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCACCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCC ACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACC CGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(493): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGC ACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCTGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGC ACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTC CCCCCGCACTCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCTGCACC T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0152 a0002c0152	a0002c0152t0002 a0002c0152t0002	a0002c0152t0002g0019 a0002c0152t0002g0019	1	363	0.0028	500	c.-48 others(517): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCA CCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCC GCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCCGCACCCCACCT GTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(493): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0001 a0004c0058t0001	a0004c0058t0001g0051 a0004c0058t0001g0051	1	300	0.0033	500	c.654 others(519): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(493): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATATACTATATATATAGTATATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTA TATATATATACTATATATATTTTATATATATATATACTATATATATAGTT T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	304	0.0033	500	c.331 others(519): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATATACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATAAACTA TATATATAGTATATATATAAACTATATATATAGTATATATATAAACTATA TATATAGTATATATATATAAACTATATATATAGTATATATATAGTATATA TATACTATATATAGTATATATATATAAACTATATATAGTATATATATATA AACTATATATATAGTATATATAAACTATATATATAGTATATATATATAAA CTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(493): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCCTCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTG GGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	326	0.0031	500	c.144 others(517): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCTC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(493): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGG GGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0216 a0003c0003t0001g0216	1	326	0.0031	500	c.144 others(517): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(493): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	326	0.0031	500	c.144 others(517): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(493): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	326	0.0031	500	c.144 others(517): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185638	C C	CGAGTAGA others(493): Show CGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0004 a0003c0015t0004	a0003c0015t0004g0060 a0003c0015t0004g0060	1	338	0.0030	500	c.300 others(517): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44181912	A A	ACACACAT others(493): Show ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACACTCACATACAGACACAACCACACCACACACACACACACTCAC AGACACAACCACACCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACATACACTCACATACAGACACAACCACACCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACACATACACACTCACATACAGACAC AACCACACCACACACACACACACTCACATACAGACACAACCACACCACAC T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02717.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0002 a0008c0008t0002 a0003c0003t0002 a0008c0008t0002	a0003c0003t0002g0377 a0003c0003t0002g0378 a0003c0003t0002g0380 others(1): Show a0003c0003t0002g0377 a0003c0003t0002g0378 a0003c0003t0002g0380 a0008c0008t0002g0302	4	460	0.0087	500	c.193 others(517): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACACACACACACTCACAGACACAACCACACCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACACACACACACATACACTCACATACAGACACAACCACAC CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(493): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACACACACACACACA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	460	0.0022	500	c.193 others(517): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACACTCACATACAGACACAACCACAC CACACACACACACACACACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACTCA CATACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(493): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02155.hp1 HG02155.hp2 others(5): Show HG00609.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp2 NA18971.hp1 NA18979.hp2 NA18991.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0390 a0001c0001t0002g0021 a0001c0001t0002g0058 others(5): Show a0001c0001t0001g0390 a0001c0001t0002g0021 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0393	8	460	0.0174	500	c.193 others(517): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACTCA CATACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(493): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACATACACACTCACATACAGA CACAACCACACCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACTCA CATACAGACACAACCACACCACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACACTCACATACAGACACAACCACA C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03540.hp2 HG03041.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0423 a0003c0003t0003g0334 a0003c0003t0002g0423 a0003c0003t0003g0334	2	460	0.0044	500	c.193 others(517): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACTCACATACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACACACTCA CATACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(493): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCT CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0233 a0001c0013t0003g0233	1	410	0.0024	500	c.-22 others(517): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(493): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCC ACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG02683.hp2 HG03017.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0114 a0001c0006t0001g0117 a0001c0006t0001g0114 a0001c0006t0001g0117	2	410	0.0049	500	c.-22 others(517): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC TCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBY2_chr13_45697320_45719559	45698358	T T	TTAAAAAG others(493): Show TTAAAAAGATTTACCAAATGCCCAACAATGATAGACTGGATTAAGAAAAT GTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGT TCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGT AAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGG TGGGAATTGAACAATGAGATCACATGGCCACAGGAAGGGGAATATCACAC TCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAG ATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGG CACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAGAGTATAATAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAA TTATAAATAAAACAAAGAAGAATAAAAAAAAAAAAAAAAAGAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG03486.hp2 others(1): Show HG01891.hp2 HG02280.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	4	440	0.0091	500	c.-40 others(511): Show c.-4033_-4032insTAAAAAGATTTACCAAATGCCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGCCACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAGAA TTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAAAAAAA AAAAAGAAAAAAAAAA	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding		3961		chr13	TogoVar
CCDC110_chr4_185440182_185476733	185471291	C C	CGGAGAGA others(493): Show CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGCAATT AGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGG AGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCGGAGGGATGGGGCGGGGCAGGGCTAACGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGCAATT AGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGG A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02723.hp1 others(3): Show HG02109.hp2 HG02257.hp1 HG02723.hp1 HG03453.hp2 HG06807.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0006 a0001c0008 a0002c0002 others(2): Show a0001c0006 a0001c0008 a0002c0002 a0005c0010 a0007c0011	a0001c0006t0003 a0001c0008t0003 a0002c0002t0002 others(2): Show a0001c0006t0003 a0001c0008t0003 a0002c0002t0002 a0005c0010t0003 a0007c0011t0003	a0001c0006t0003g0287 a0001c0008t0003g0027 a0002c0002t0002g0288 others(2): Show a0001c0006t0003g0287 a0001c0008t0003g0027 a0002c0002t0002g0288 a0005c0010t0003g0286 a0007c0011t0003g0285	6	428	0.0140	500	c.11- others(513): Show c.11-243_11-242insTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAGCCCCGCCCCCTCCTAATTGCCTCCGCCCCGCCCTCCCGGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCGTTAGCCCTGCCCCGCCCCATCCCTCCGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCCTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAGCCCCGCCCCCTCCTAATTGCCTCCGCCCCGCCCTCCCGGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185471291	C C	CGGAGAGA others(493): Show CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCGGGGAGGGCGGGGCGGAGGGAATT AGGAGGGGGCGGGTTTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGG CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGCAATT AGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGG A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp2 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0007 a0009c0021	a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0003t0002 a0004c0007t0001 a0009c0021t0002	a0001c0001t0001g0300 a0002c0002t0002g0373 a0002c0004t0001g0374 others(7): Show a0001c0001t0001g0300 a0002c0002t0002g0373 a0002c0004t0001g0374 a0002c0004t0002g0302 a0002c0004t0003g0301 a0002c0004t0003g0303 a0003c0003t0002g0304 a0003c0003t0002g0372 a0004c0007t0001g0371 a0009c0021t0002g0375	10	428	0.0234	500	c.11- others(513): Show c.11-243_11-242insTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAGCCCCGCCCCCTCCTAATTGCCTCCGCCCCGCCCTCCCGGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCCGCCCCATCCCATCCCTGCGCCCCGCCCCAGCC TTCAAACCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCTCCCCGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGGGA others(493): Show TGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC C	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19085.hp2 HG03704.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0090 a0001c0003t0003g0076 a0001c0001t0002g0090 a0001c0003t0003g0076	2	288	0.0069	500	c.303 others(519): Show c.303+24118_303+24119insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCC TGGCTTTCCTTTCCTTCTCCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(493): Show GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG C	intron_variant intron_variant	MODIFIER	HG00741.hp1 homoSapiens_chm13v2.hp1 HG00741.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0001 a0001c0003t0003 a0002c0004t0001	a0001c0003t0003g0153 a0002c0004t0001g0152 a0001c0003t0003g0153 a0002c0004t0001g0152	2	288	0.0069	500	c.303 others(519): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTC CTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTT CCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDH4_chr20_61247261_61945617	61943023	A A	ATGGCCGC others(493): Show ATGGCCGCCCCTTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03927.hp2 HG01496.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0016 a0001c0001t0040 a0002c0002t0016	a0001c0001t0040g0055 a0002c0002t0016g0075 a0001c0001t0040g0055 a0002c0002t0016g0075	2	106	0.0189	500	c.60 others(511): Show c.6080_*6081insTGGCCGCCCCTTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2407		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943023	A A	ATGGCCGC others(493): Show ATGGCCGCCCCTTCTCACCGATCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACC GTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG04115.hp1 HG04204.hp1 HG01106.hp2 HG04115.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0004 a0002c0002t0023 a0002c0005t0024 a0002c0002t0004 a0002c0002t0023 a0002c0005t0024	a0002c0002t0004g0077 a0002c0002t0023g0102 a0002c0005t0024g0048 a0002c0002t0004g0077 a0002c0002t0023g0102 a0002c0005t0024g0048	3	106	0.0283	500	c.60 others(511): Show c.6080_*6081insTGGCCGCCCCTTCTCACCGATCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACT GCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACT GCGACCGTCTGCACCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2407		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943391	C C	CGACGACG others(493): Show CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC CGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0082 a0002c0002t0012g0082	1	106	0.0094	500	c.64 others(511): Show c.6448_*6449insGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCTTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACCGTG GCCGCCCCCTCTCACT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2775		chr20	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(493): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0302 a0001c0004t0086g0302	1	334	0.0030	500	c.-25 others(511): Show c.-2517_-2516insCAATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(493): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCCTTCCCACTCCCCCTTCCCACTTCC CACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCC CCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCG TCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCAC TCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTC TCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTC TCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTT C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	194	0.0052	500	c.75- others(517): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCCTTCC CACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCC TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CTCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(493): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTTC C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	194	0.0052	500	c.75- others(517): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCTCCCTCTTCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11283968	T T	TGGATGAG others(493): Show TGGATGAGGGATGAGTATGTGGTGGGTGGATGAGGGATGAGTGTGTGGTG GGTGGATGAGGGATGAGTGTGTGGTAAGTGGATGATGGATGGAGGGGTGG GTGGATGATGGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGT GGGTGGATGAGGGATGAGTGGTGGGTGGATGATGGATGAGTGTGTGGTGA GTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGGAGGGGTGGG TGGATGATGGATGACTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTG AGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGACGGAGGGGTGGGTGG ATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGCGTGGTGGGT GGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGG G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03540.hp1 others(1): Show HG03041.hp2 HG03139.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0054 a0001c0002t0002g0049 a0001c0002t0002g0061 others(1): Show a0001c0002t0001g0054 a0001c0002t0002g0049 a0001c0002t0002g0061 a0001c0002t0002g0068	4	194	0.0206	500	c.842 others(517): Show c.842-4444_842-4443insGGGATGAGTATGTGGTGGGTGGATGAGG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTAAGTGGATGA TGGATGGAGGGGTGGGTGGATGATGGATGAGTGTGTGGTAGGTGGATGAT GGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGGTGGGTGGATGATGG ATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAG GGATGGAGGGGTGGGTGGATGATGGATGACTGTGGTAGGTGGATGATGGA TGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATG GATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGA CGGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGAT GAGTGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGG ATGAGTGTGTGGTGGGGGATGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11283968	T T	TGGATGAG others(493): Show TGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTG GGTGGATGAGGGATGAGTGTGTGGTAAGTGGATGATGGATGGAGGGGTGG GTGGATGATGGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGT GGGTGGATGAGGGATGAGTGGTGGGTGGATGATGGATGAGTGTGTGGTGA GTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGGAGGGGTGGG TGGATGATGGATGACTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTG AGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGACGGAGGGGTGGGTGG ATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGCGTGGTGGGT GGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGG G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01978.hp2 HG02145.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18975.hp2 NA18983.hp1 NA19002.hp1 NA19010.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(24): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0021 a0001c0001t0035 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0029 a0001c0002t0033 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0003t0024 a0001c0003t0039 a0001c0004t0001 a0001c0004t0007 a0001c0009t0006	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0097 others(53): Show a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0006g0117 a0001c0001t0008g0186 a0001c0001t0017g0004 a0001c0001t0021g0076 a0001c0001t0035g0095 a0001c0001t0046g0069 a0001c0002t0001g0014 a0001c0002t0001g0032 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0107 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0001g0154 a0001c0002t0001g0167 a0001c0002t0001g0176 a0001c0002t0002g0073 a0001c0002t0002g0101 a0001c0002t0003g0078 a0001c0002t0003g0105 a0001c0002t0004g0147 a0001c0002t0005g0005 a0001c0002t0008g0028 a0001c0002t0015g0143 a0001c0002t0016g0035 a0001c0002t0018g0084 a0001c0002t0018g0135 a0001c0002t0029g0106 a0001c0002t0033g0001 a0001c0003t0001g0046 a0001c0003t0002g0082 a0001c0003t0002g0093 a0001c0003t0002g0181 a0001c0003t0003g0137 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0016g0003 a0001c0003t0016g0070 a0001c0003t0024g0142 a0001c0003t0039g0034 a0001c0004t0001g0091 a0001c0004t0001g0098 a0001c0004t0001g0113 a0001c0004t0001g0152 a0001c0004t0007g0045 a0001c0004t0007g0059 a0001c0009t0006g0125	56	194	0.2887	500	c.842 others(517): Show c.842-4444_842-4443insGGGATGAGTGTGTGGTGGGTGGATGAGG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTAAGTGGATGA TGGATGGAGGGGTGGGTGGATGATGGATGAGTGTGTGGTAGGTGGATGAT GGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGGTGGGTGGATGATGG ATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAG GGATGGAGGGGTGGGTGGATGATGGATGACTGTGGTAGGTGGATGATGGA TGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATG GATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGA CGGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGAT GAGTGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGG ATGAGTGTGTGGTGGGGGATGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(493): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGGT GGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAG TGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAG GTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTAT TTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGT GGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGG ATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGT GGATGAGTGGATGGGTGGATGGGTGGGTGGATGGATGAATGAATGGATGG G	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18980.hp2 HG04184.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0066 a0001c0002t0005g0093 a0001c0001t0001g0066 a0001c0002t0005g0093	2	262	0.0076	500	c.259 others(519): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGG ATGAGTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAAT GATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAA TGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGT GGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGG GTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGAT GAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAG GTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGAT GGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCC TCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	354	0.0028	500	c.69 others(511): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCC CCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	354	0.0028	500	c.69 others(511): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	354	0.0028	500	c.69 others(511): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(493): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGG CACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCA CCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp2 others(58): Show HG00140.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18522.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0014 a0021	a0001c0003 a0001c0027 a0001c0029 others(5): Show a0001c0003 a0001c0027 a0001c0029 a0003c0005 a0007c0009 a0009c0012 a0014c0011 a0021c0025	a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 others(7): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0001c0027t0001 a0001c0029t0001 a0003c0005t0001 a0007c0009t0008 a0009c0012t0001 a0014c0011t0001 a0021c0025t0001	a0001c0003t0001g0102 a0001c0003t0001g0123 a0001c0003t0001g0141 others(58): Show a0001c0003t0001g0102 a0001c0003t0001g0123 a0001c0003t0001g0141 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0313 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0009g0008 a0001c0027t0001g0167 a0001c0029t0001g0103 a0003c0005t0001g0107 a0003c0005t0001g0130 a0007c0009t0008g0337 a0009c0012t0001g0178 a0014c0011t0001g0166 a0014c0011t0001g0176 a0021c0025t0001g0156	61	346	0.1763	500	c.360 others(519): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGA CGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGGTGAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20129.hp1 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0002 a0001c0001t0005g0007	2	270	0.0074	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0184 a0001c0005t0048g0184	1	270	0.0037	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCCTCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	270	0.0037	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCCTC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03486.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0040 a0001c0001t0019 a0001c0001t0040	a0001c0001t0019g0083 a0001c0001t0019g0084 a0001c0001t0040g0035 a0001c0001t0019g0083 a0001c0001t0019g0084 a0001c0001t0040g0035	3	270	0.0111	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(493): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTC TCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp1 HG01106.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0087 a0001c0001t0030 a0001c0001t0087	a0001c0001t0030g0037 a0001c0001t0087g0036 a0001c0001t0030g0037 a0001c0001t0087g0036	2	270	0.0074	500	c.162 others(521): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCC TCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)