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
MCF2L2_chr3_183173041_183433619	183314943	T T	TTGAGACA others(509): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	176	0.0057	516	c.753 others(533): Show c.753+3124_753+3125insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(509): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0166 a0006c0006t0001g0166	1	292	0.0034	516	c.377 others(533): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GGAGGAGA others(509): Show GGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGGG AAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp2 HG02735.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0014 a0001c0002t0012g0048 a0001c0002t0001g0014 a0001c0002t0012g0048	2	250	0.0080	516	c.225 others(533): Show c.225-2388_225-2387insGGAGAGAGAGGGAAAGAGAGAGAGAAGG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAG AGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(509): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCTCTCTTCCCTCCCCTCCCC TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCC TCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0010	1	140	0.0071	516	c.114 others(535): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCC TCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250637	A A	AGAAGAAG others(509): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGCAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAA GAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGA AGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAG AGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA GAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGA GGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAG AAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAG GAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGA AGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGG AAGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	294	0.0034	516	c.677 others(531): Show c.677+268_677+269insCTCTTCTTCCTCTTCTTCCTCTTCTTCCTC TTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTT CCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCT TCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTC CTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTT CTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCC TCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTC TTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCT CTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TGCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(509): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0032	1	364	0.0028	516	c.394 others(531): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(509): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTC CTCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	223	0.0045	516	c.289 others(533): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCC TCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(509): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGCGCAC ACATGCACATACATACTGGCACACGTACATGCACACATGAGCACATGTGC ACACATGCACATACAGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACGTACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACAT GCACACATGAACACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA20129.hp1 HG02572.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	2	350	0.0057	516	c.-30 others(527): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGCGCACACATGCACATACATACTGGCACACGTACATGCACA CATGAGCACATGTGCACACATGCACATACAGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACGTACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATG CACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACCGG CACACGTACACACATGCACACATGAACACGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(509): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC CGGCACACGTACACACATGCACACATGAACACATGTGCACACGTACACAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACATGCATACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC CCATACACACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACACACTGGCACACACGTACACACACATGCACACAT GAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACATGC ACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	350	0.0029	516	c.-27 others(527): Show c.-2720_-2719insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACCGGCACACGTACACACATGCACACATGAACACATG TGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACACACATGCATACATGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCA CATGTGCACACATGCCCATACACACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCA CACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
OTOF_chr2_26452203_26483124	26476546	A A	ACCTTCCC others(509): Show ACCTTCCCCACCTTCCTTCCCCACCCCCTTCCCCTCCCACCCCTTCCCCC ACCTCCTTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCTCCTTCCCCA CCCTTCCCCCACCCCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CTCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACC CCTTCCCCCACCCCTTCCCCACCCTTCCCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCCTT CCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCCACCCCTTCCC CCACGTCCCTTCCCCAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	330	0.0030	516	c.436 others(531): Show c.436-230_436-229insGTGGGGAAGGGACGTGGGGGAAGGGGTGGG GGAAGGAGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGAGGTGGGG GAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGAAGGAGGTGGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGGGAAGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGGGTGGGGGAAGGGTGGGGAAGGAGGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAAGGAGGTGGGGGAAGGGGTG GGAGGGGAAGGGGGTGGGGAAGGAAGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476546	A A	ACCTTCCC others(509): Show ACCTTCCCCACCTTCCTTCCCCACCCCCTTCCCCTCCCACCCCTTCCCCC ACCTCCTTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCTCCTTCCCCA CCCTTCCCCCACCCCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CTCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACC CCTTCCCCCACCCCTTCCCCACCCTTCCCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCCTT CCCCACCCCTTCCCCCACCCCTTCCCCACCTCCTTCCCCCACCCCTTCCC CCACGTCCCTTCCCCAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0092 a0001c0015t0001g0092	1	284	0.0035	516	c.267 others(533): Show c.2677-230_2677-229insGTGGGGAAGGGACGTGGGGGAAGGGGTG GGGGAAGGAGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGAGGTGG GGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGAAGGAGGTGGGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGGGAAGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGGGTGGGGGAAGGGTGGGGAAGGAG GGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAAGGAGGTGGGGGAAGGGG TGGGAGGGGAAGGGGGTGGGGAAGGAAGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PNPLA7_chr9_137454952_137555402	137503801	G G	GGAAGAAG others(509): Show GGAAGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCA GAAAGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAA AGAAGAAGAAGGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAA GAAGAAGGAAGAATGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0004 a0016c0017t0004	a0016c0017t0004g0053 a0016c0017t0004g0053	1	188	0.0053	516	c.147 others(535): Show c.1473+1812_1473+1813insTTCATTCTTCCTTCTTCTTCCTTCTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTT CTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTC TTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCT TCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCT TCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTC TTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTT CTTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTT CTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTT CTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTC TTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRDM16_chr1_3064203_3443621	3162861	C C	CTCTAGAG others(509): Show CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAG GGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGG CTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGA GAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGG ATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGAT GTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCTGGCATGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0042 a0001c0001t0046g0042	1	210	0.0048	516	c.38- others(533): Show c.38-23189_38-23188insCCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTGCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGG GGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGG ATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGAT GTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124192	T T	TGTAGTTA others(509): Show TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTG GTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA CGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	286	0.0035	516	c.335 others(535): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCA AGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(509): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCCTCCCTCCCC TCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCT TTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCTCTCCCCGCCCTCCCCTCCCCTTCTCTCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTA CACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCATCCCCTTCCCTCCCTTC CCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCC CCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCC CCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	218	0.0046	516	c.80+ others(533): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCC TCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCTCTCCCCGCCCTCCCCTCCCCTTCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCATC CCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCT CTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCC CTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(509): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCTCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0088 a0001c0005t0088	a0001c0005t0088g0106 a0001c0005t0088g0106	1	218	0.0046	516	c.80+ others(533): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCTCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCC TTTCCCTCCCCTCCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(509): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGGGGAGGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGA GGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	516	c.36 others(527): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(509): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCA CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC TGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGA GGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	204	0.0049	516	c.880 others(533): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RIN2_chr20_19753258_20007456	19924535	T T	TTCATACC others(509): Show TTCATACCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATACCC CACCTCCATACCCCACCTCCATACCCCACCTTCCTACCCCCACCTTCATA CCCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCCCACCT TCATACCCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACC TCACCTTCATACCCCACCTCCATACCCCACCTTCATACCCCCACCTTCAT TCCCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACCTCACC TTCATACCCCACCTCCATACCCCACCTTCATACCCCCACCTTCATTCCCC ACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACCTCACCTTCAT ACCCCACCTCCATACCCCACCTTCATACCCCCACCTTCATACCCCACCTT CATACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATACCCT CACCTTCATAACCTCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0198 a0002c0004t0001g0198	1	276	0.0036	516	c.58- others(533): Show c.58-10564_58-10563insTCATACCCTCACCTTCATACCCTCACCT CCATACCCCACCTTCATACCCCACCTCCATACCCCACCTCCATACCCCAC CTTCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATAC CCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTT CATACCCTCACCTTCATAACCTCACCTTCATACCCCACCTCCATACCCCA CCTTCATACCCCCACCTTCATTCCCCACCTTCATACCCCCACCTTCATAC CCTCACCTTCATAACCTCACCTTCATACCCCACCTCCATACCCCACCTTC ATACCCCCACCTTCATTCCCCACCTTCATACCCCCACCTTCATACCCTCA CCTTCATAACCTCACCTTCATACCCCACCTCCATACCCCACCTTCATACC CCCACCTTCATACCCCACCTTCATACCCCCACCTTCATACCCTCACCTTC ATACCCCCACCTTCATACCCTCACCTTCATAACCTCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(509): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATAATATATTATATATAATATATATTATATATTATATATAATATATAA TATATATTATATATAATATATAATATATATAATATATATTATATATAATA TATATTATATATTATATATAATATATAATATATATTATATATAATATATA TTATATGTTATATATAATATATAAATATATATTATATATAATATATATTA TATATAATATATATTATATATTATATATATTATATATTATATATTATATA TAATATATATTATATATTATATATATTATATATTATATATTATATATAAT ATATAAATATATTATATATAATATATAATATATAATATATATATATTATA TATAATATATAAATATATATTATATATTATATATAATATATAATATATTA TATATATATTTAATATATATTTTATATATAAATATATATTATATATATTT AATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03139.hp1 HG02896.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0123 a0002c0004t0002g0047 a0001c0001t0002g0123 a0002c0004t0002g0047	2	188	0.0106	516	c.193 others(535): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATATTATATATTATATATTATATATAATATATTTATATATTATATAT AATATATAATATATAATATATATAATATATAATATATATTATATATAATA TATAATATATAATATATATAATATATAATATATATTATATATAATATATA TTATATATAATATATATTTATATATTATATATAACATATAATATATATTA TATATAATATATATTATATATTATATATAATATATAATATATATTATATA TAATATATATTATATATATTATATATTATATATAATATATATTATATATT ATATATAATATATAATATATATTATATATAATATATTATATATTATATAT AATATATTATATATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289219	T T	TCCGTCCC others(509): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCTGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	290	0.0035	516	c.166 others(535): Show c.1663-1045_1663-1044insGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCTGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(509): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0205 a0001c0001t0001g0208	2	324	0.0062	516	c.115 others(533): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77485059	G G	GGTGAAGG others(509): Show GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGTAATATGGGTGA TGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTTGTGGTGTGGTAATGGTGATGGTGGTAAAG GGGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTG TGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0002 a0002c0002t0043g0002	1	150	0.0067	516	c.914 others(533): Show c.914-2362_914-2361insAAGGGGGTGATGGTGATTGTGATGGTGG TGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATG GTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTTGTGGTGTGGTA ATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTG ATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485059	G G	GGTGAAGG others(509): Show GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGTAATATGGGTGA TGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTTGTGGTGTGGTAATGGTGATGGTGGTAAAG GGGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTG TGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0124 a0002c0002t0028g0124	1	158	0.0063	516	c.860 others(533): Show c.860-2362_860-2361insAAGGGGGTGATGGTGATTGTGATGGTGG TGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATG GTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTTGTGGTGTGGTA ATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGT GATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTG ATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(509): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	405	0.0025	516	c.865 others(531): Show c.865-483_865-482insAGGGAGCAGCCTGCGGCCGAGCCTGTCCCA CCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCC CATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCC GGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCA GCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCG GCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(509): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	405	0.0025	516	c.865 others(531): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCC ACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(509): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02738.hp2 others(8): Show HG01256.hp2 HG01258.hp2 HG02738.hp2 NA18955.hp2 NA18984.hp1 NA18989.hp1 NA19055.hp1 NA19067.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0243 a0001c0001t0001g0274 a0002c0002t0001g0004 others(3): Show a0001c0001t0001g0243 a0001c0001t0001g0274 a0002c0002t0001g0004 a0002c0002t0001g0108 a0002c0003t0001g0035 a0002c0003t0001g0156	11	405	0.0272	516	c.865 others(531): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(509): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	405	0.0025	516	c.865 others(531): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(509): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01346.hp1 HG01928.hp1 others(7): Show HG01256.hp1 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02273.hp2 HG02300.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0244 a0002c0002t0001g0003 a0002c0002t0001g0129 others(2): Show a0001c0001t0001g0244 a0002c0002t0001g0003 a0002c0002t0001g0129 a0002c0002t0001g0134 a0002c0002t0001g0136	10	405	0.0247	516	c.865 others(531): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(509): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAG GGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCG GAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGA GGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGA GGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGG GGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGG AGGCGGGGGGGCAGGAGGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGG GCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	222	0.0045	516	c.914 others(535): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCTGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCT CCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGC CCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCC CCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	373	0.0027	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(83): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18945.hp1 NA18955.hp1 NA18956.hp2 NA18968.hp2 NA18978.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0028 a0001c0003t0001 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0016 a0001c0003t0019 a0001c0003t0024 a0001c0004t0001 a0001c0004t0008 a0001c0007t0001 a0001c0007t0002 a0001c0007t0014 a0001c0008t0001 a0001c0009t0005 a0001c0010t0015 a0001c0010t0022 a0001c0012t0004 a0001c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0153 a0001c0001t0001g0246 a0001c0001t0001g0305 a0001c0001t0001g0334 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0072 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0002g0222 a0001c0001t0002g0292 a0001c0001t0006g0056 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0002t0001g0184 a0001c0002t0003g0019 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0096 a0001c0002t0003g0119 a0001c0002t0003g0361 a0001c0002t0004g0273 a0001c0002t0028g0293 a0001c0003t0001g0037 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0005g0348 a0001c0003t0009g0023 a0001c0003t0009g0135 a0001c0003t0009g0349 a0001c0003t0009g0350 a0001c0003t0012g0134 a0001c0003t0016g0214 a0001c0003t0019g0036 a0001c0003t0024g0009 a0001c0004t0001g0251 a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0296 a0001c0004t0008g0263 a0001c0007t0001g0137 a0001c0007t0001g0141 a0001c0007t0001g0271 a0001c0007t0002g0047 a0001c0007t0002g0138 a0001c0007t0014g0136 a0001c0007t0014g0139 a0001c0008t0001g0202 a0001c0008t0001g0248 a0001c0009t0005g0020 a0001c0009t0005g0022 a0001c0010t0015g0258 a0001c0010t0015g0259 a0001c0010t0015g0261 a0001c0010t0022g0257 a0001c0012t0004g0250 a0001c0019t0001g0034	86	373	0.2306	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0144 a0001c0003t0045g0144	1	373	0.0027	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCTCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	373	0.0027	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG AGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0247 a0001c0004t0001g0247	1	373	0.0027	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19009.hp2 NA18612.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0337 a0001c0002t0001g0339 a0001c0001t0001g0337 a0001c0002t0001g0339	2	373	0.0054	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCATGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	2	373	0.0054	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCATGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(509): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCATGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03942.hp1 HG03927.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	373	0.0054	516	c.654 others(531): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCATGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168595255	C C	CTTTCTAG others(509): Show CTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGC ATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGG GCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACG GGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCAT GGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCA TGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGAAGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTAAG GCCTCACAAGGGGCATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0049 a0001c0004t0005g0049	1	180	0.0056	516	c.638 others(533): Show c.638-3548_638-3547insTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACA AGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCA CAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGG CCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAG GCCTCATGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAAGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTAAGGCCTCACAAGGGGCATGTTTCTAGAGGATCGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168595255	C C	CTTTCTAG others(509): Show CTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGC ATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGG GCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACG GGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCAT GGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCA TGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTAAG GCCTCACAAGGGGCATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037	3	180	0.0167	516	c.638 others(533): Show c.638-3548_638-3547insTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACA AGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCA CAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGG CCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAG GCCTCATGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTAAGGCCTCACAAGGGGCATGTTTCTAGAGGATCGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(509): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTTATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19007.hp2 NA18977.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0019 a0002c0002t0002g0020	2	302	0.0066	516	c.12+ others(531): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTTATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0088 a0001c0001t0013g0088	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(509): Show AAGGGGAAGGGGGAAGGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	251	0.0040	516	c.34 others(525): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(509): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAATAAATC AAAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp1 others(15): Show HG00280.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02004.hp1 HG02300.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 NA19240.hp1 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0018 a0004c0004t0003 a0004c0004t0018	a0004c0004t0003g0008 a0004c0004t0003g0040 a0004c0004t0003g0041 others(10): Show a0004c0004t0003g0008 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0042 a0004c0004t0003g0317 a0004c0004t0003g0320 a0004c0004t0003g0321 a0004c0004t0003g0323 a0004c0004t0003g0324 a0004c0004t0003g0325 a0004c0004t0003g0326 a0004c0004t0003g0327 a0004c0004t0018g0318	18	398	0.0452	516	c.43 others(527): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CGCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCAT GCCAGGCTCATTTTTTGTGTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTT TTGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGT CCCACATAATAACTGTCTGGATCCCGTCTCTACTAAAAATACAAAAAATT AGCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGA GGCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(509): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAAATAATAAATC AAAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	398	0.0025	516	c.43 others(527): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTT TTGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGT CCCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATT AGCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGA GGCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(509): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAATAATAATAAATC AAAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	2	398	0.0050	516	c.43 others(527): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCC AGGCTCATTTTTTGTGTTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTT TTGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGT CCCACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATT AGCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGA GGCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar

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Search Results (Total: 10000 hits)