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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Select column to sort.

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Results per page.

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
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp2 others(16): Show HG00323.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01257.hp2 HG01433.hp2 HG01978.hp2 HG01981.hp2 HG02683.hp2 HG02818.hp1 HG03490.hp2 HG04115.hp1 NA18943.hp2 NA18986.hp1 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(2): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0001c0004t0006 a0001c0004t0053 a0001c0007t0013 a0001c0007t0026 a0001c0007t0064 a0001c0008t0001 a0001c0008t0004 a0001c0008t0046 a0002c0006t0001	a0001c0002t0001g0152 a0001c0002t0001g0210 a0001c0002t0002g0057 others(16): Show a0001c0002t0001g0152 a0001c0002t0001g0210 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0005g0202 a0001c0002t0005g0204 a0001c0002t0005g0206 a0001c0002t0019g0034 a0001c0004t0006g0045 a0001c0004t0006g0060 a0001c0004t0053g0264 a0001c0007t0013g0251 a0001c0007t0026g0205 a0001c0007t0064g0314 a0001c0008t0001g0197 a0001c0008t0004g0180 a0001c0008t0004g0181 a0001c0008t0046g0095 a0002c0006t0001g0299	19	314	0.0605	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18962.hp2 NA18982.hp1 HG02132.hp2 NA18962.hp2 NA18982.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0020 a0001c0002 a0008c0020	a0001c0002t0001 a0001c0002t0002 a0008c0020t0001 a0001c0002t0001 a0001c0002t0002 a0008c0020t0001	a0001c0002t0001g0144 a0001c0002t0002g0110 a0008c0020t0001g0304 a0001c0002t0001g0144 a0001c0002t0002g0110 a0008c0020t0001g0304	3	314	0.0096	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0016 a0002c0010t0016	a0002c0010t0016g0035 a0002c0010t0016g0035	1	314	0.0032	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCT TTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18977.hp1 NA19009.hp2 HG00558.hp2 NA18977.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0196 a0001c0002t0001g0285 a0001c0002t0001g0287	3	314	0.0096	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(922): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0237 a0002c0006t0001g0237	1	314	0.0032	929	c.916 others(946): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCT TTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTC TTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCT TCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTT C	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SIGIRR_chr11_400716_419999	402342	C C	CGGCCCCG others(922): Show CGGCCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGAC CCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCC GCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACC CGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCG ACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCT CACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCG GCCCCGCTCACCCCGACCCCGCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	929	c.35 others(940): Show c.3553_*3554insCGGGGTGAGCGGGGTCGGGGTGAGCGGGGCCGGG GGTGAGCGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGTCCCGGGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCG GGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGC GGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGG GTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTGAGC GGGTCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGG GCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGT CCCGGGGTGAGCGGGGCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGTCG GGGTGAGCGGGTCCCGGGGTGAGCGGGGCGGGGGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3373		chr11	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(922): Show ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATAAATATATATATAAATATATAAAAATATATATAAATATATAT ATAAATATATATAAAAATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATAAATATATATAAAT ATATATATAAATATATAAAAATATATATAAATATATATAAATATATAAAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATATAAATATATAAAAATATATATAAATATATATAAATATATATAT AAATATATATAAATATATATAAATATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATAAATGTATATATAAATATATATATAAATATAT ATAAATATATATAACTATATATATAAATATATATATAAATATATATAAAT ATATATAACTATATATAAATATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATAAAAAATA TATATAAATATATAAATATATAAAAAATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATAAAAAATATATATATATAAAAATATA TATAAATATATAAAAATATATTTATATATATAAATATATTTATATATAAA TATAAATATATATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	186	0.0054	929	c.-50 others(940): Show c.-5060_-5059insTATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATAAATATATATATAAATATATAAAAATA TATATAAATATATATATAAATATATATAAAAATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TAAATATATATAAATATATATATAAATATATAAAAATATATATAAATATA TATAAATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATAAAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATGTATATATAAATA TATATATAAATATATATAAATATATATAACTATATATATAAATATATATA TAAATATATATAAATATATATAACTATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATAAAAAATATATATAAATATATAAATATATAAAAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATAAAAAATATAT ATATATAAAAATATATATAAATATATAAAAATATATTTATATATATAAAT ATATTTATATATAAATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418444	C C	CGTTTCCT others(922): Show CGTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTT CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCC CTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTC CTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCATTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTC CCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCGTTTC CTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTC CTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTC CTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCT TCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCC TTCCCTCCCTCCCTTTCCTTCCATTCCTTCCCTCCCTCTCTTTCCTTCCA TTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCC TTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTGGCCTTTCCTTCCATT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0082 a0005c0010t0002g0082	1	114	0.0088	929	c.215 others(946): Show c.2154+306_2154+307insGTTTCCTTCCCTCCCTCCGTTTCCTTCC CTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCC TCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCC ATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCC TCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCC TCCCTCCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT GGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGT TTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT CCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTC CCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTT CCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCATTCCTT CCCTCCCTCTCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTC CCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTC CGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCAT T	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(922): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTA AGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0042 a0002c0002t0007g0042	1	466	0.0022	929	c.46 others(940): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(922): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCA AGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTA AGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	466	0.0022	929	c.46 others(940): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69076789	C C	CCTGCCCT others(922): Show CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATG TCCCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTC CTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCAC CTGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCGTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGT CCCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCC TGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACC TGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTC CCTCCACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCT GCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCC CTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCC CTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTG CCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTG CCCTCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCCACCTG CCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTG CCCTCCTGCCCTCCTGCCATGTCCCTCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01123.hp2 HG00099.hp1 HG00323.hp1 HG01123.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102 a0008c0010t0006g0100 a0008c0010t0006g0101 a0008c0010t0006g0102	3	404	0.0074	929	c.123 others(948): Show c.1231-1456_1231-1455insATGTCCCTCCACCTGCCCTCGTGCCA TGTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTCCCTCCACTTGCCC TCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACCTGCCCTCCTGCTGT GTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCAC GTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCCTGCCCTCGTGCCATGTCCCTCCACTTGCCCT CCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATG TCCCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTC CTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTC CTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGT CTGTCCACTTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCC TGCCATGTCCCTCCAGCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCC TGCCCTCGTGCCATGTCCCTCCACTTGCCCTCCTGCCCTCATGCCATGTC CCTCCACTTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCT GCCATGCCCCTCCACCTGCCCTCCTGCTGTGTCCCTCCACCTGCCCTCCT GCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCT GCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204371	T T	TATGATGA others(922): Show TATGATGATATACTATATCATCATATGATGATATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0013 a0001c0001t0060g0013	1	174	0.0058	929	c.41- others(946): Show c.41-49126_41-49125insGATGATATACTATATCATCATATGATGA TATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA T	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(923): Show TTTATATATTTATATATTTATAGATAAATATATAAATATATAAATATATA TATATTTATAGATAAATATATAAATATATAAATATATATATATTTATAGA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATAGA TATATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGA TAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTATA TATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATA AATATTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAGTATTTTTATATTTATAGATAAACGTATAAGTATTTTTA TATTTATAGATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19087.hp1 HG00438.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0010 a0001c0006t0002 a0001c0005t0010 a0001c0006t0002	a0001c0005t0010g0104 a0001c0006t0002g0107 a0001c0005t0010g0104 a0001c0006t0002g0107	2	306	0.0065	930	c.130 others(949): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATCTAT AAATATAAAAATACTTATACGTTTATCTATAAATATAAAAATACTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAA ATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTAT AAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATAC GTTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAA ATATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTAT AAATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATAC GTTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAAAT ATATATCTATATATTTATATATTTATCTATAAATATATATATATTTATAT ATTTATCTATAAATATATATATATTTATATATTTATATATTTATCTATAA ATATATATATATTTATATATTTATATATTTATCTATAAATATATAAATAT ATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(923): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTA TATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGATA AATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TATAAATATTTATAGATAAATATATAAATATATAAATATATAAATATTTA TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0276 a0001c0002t0003g0276	1	306	0.0033	930	c.130 others(949): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATATATTTATCTATAAATAT TTATATATTTATATATTTATCTATAAATATATAAATATTTATATATTTAT ATATTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATATATTT ATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(923): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTCATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAA TATATAAATATATAAATATTTATAGATAAATATATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0285 a0001c0007t0001g0285	1	306	0.0033	930	c.130 others(949): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATATAAATATTTATATATATATATTTATCTATAAATATATAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATGAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(923): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	306	0.0033	930	c.130 others(949): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATATATTTATCTATAAATATTTATATATTTATATATTTAT CTATAAATATATAAATATTTATATATTTATATATTTATCTATAAATATAT AAATATTTATATATATATATTTATCTATAAATATATAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288475	T T	TCCCCCGT others(923): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCTGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCC CTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCTGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	295	0.0034	930	c.50 others(941): Show c.5088_*5089insGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGA CTCGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACA CAGGGAATGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGA ATGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAG CAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACAGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3915		chr1	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGG others(923): Show GGGGGTGGGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGT GGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCC GTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCT GGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCT GCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGT GGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCC GCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCT GGGGGGGCGTCCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGG CTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGG CGTCTGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGG TATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGG GGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGGTGTGG GGGCTCCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	286	0.0035	930	c.539 others(945): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCC CCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGC CCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGAT ACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCAGAC GCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAA GCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGG GAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCAC ACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGGACGCCCCCC CAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCG CGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCG CAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCC CAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCA CGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAGCCCC CACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACCCACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(923): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGT GTGGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCG GGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGGCTCCCGTGGGTATCTGG GGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGT GGGGGCTCCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTCC GCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCT GGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0044 a0004c0004t0001g0044	1	286	0.0035	930	c.539 others(945): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGGAGCCCC CACACCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCG CGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCC CCCAGATACCCACGGGAGCCCCCCACACCCCTGCAGACGCCCCCAGATAC CCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGACGC CCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGC CCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGA GCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCCA CACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCCGC AGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ATP9B_chr18_79064394_79383283	79336043	A A	ATGCCCTC others(923): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCC TCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	298	0.0034	930	c.202 others(947): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCA GG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(923): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCC TCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0013t0004g0108 a0001c0013t0004g0111	2	298	0.0067	930	c.202 others(947): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCA GG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA19057.hp2 NA18951.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	391	0.0051	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(923): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	391	0.0026	930	c.36 others(941): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1078565	A A	AGGCTGAG others(923): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCATCGGGGG AGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGG AGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGC TATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACT CCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGTCTATGGGGACTCCGTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	326	0.0031	930	c.43 others(941): Show c.4327_*4328insACCCCTCACGGAGTCCCCATAGACTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGT CCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGT CCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCTC GGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCCATAGCC ACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCC GCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGT CCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCCC CCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3257		chr1	TogoVar
CCDC88C_chr14_91266323_91422820	91293537	G G	GGCCCACC others(923): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCAC GGCCCACCTTCCTGTCCCCTCGCCTGCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG00639.hp1 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0050 a0001c0004t0001g0051	2	284	0.0070	930	c.411 others(947): Show c.4112+635_4112+636insTGTGGCAGGCGAGGGGACAGGAAGGTGG GCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(923): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATAATATATATTATATATGTAATATATATTATATATGTAATATATATTA TATATGTAATATATTACATATATAATATATATTACATATATAATATATAT TATATATGTAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATATTATATATATTATAT ATGTAATATATATTATATATATTATATATGTAATATATATTATATATTAT ATATGTAATATATATTATATATGTAATATATGTAATATATATTATATATG TAATATATGTAATATATATTATATATGTAATATATGTAATATATATTATA TATGTAATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	236	0.0042	930	c.342 others(951): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATAATATATATTATATATGTAATATA TATTATATATGTAATATATATTATATATGTAATATATTACATATATAATA TATATTACATATATAATATATATTATATATGTAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATATTATATATATTATATATGTAATATATATTATATATATTATAT ATGTAATATATATTATATATTATATATGTAATATATATTATATATGTAAT ATATGTAATATATATTATATATGTAATATATGTAATATATATTATATATG TAATATATGTAATATATATTATATATGTAATATATGTAATATATATTATA TATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1327944	A A	ACAGACAC others(923): Show ACAGACACATTCCATCCAGTTCCTCCTCTACAGACACATTCCATCCAGCT CCTCCTCTGCAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTCC ATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCTCCTCCTCTGCAGA CACATTCCATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCTCCTCC TCTACAGGATACATTCCATCCAGCTCCTCCTCTACAGGATACATTTCATC CAGCTACTCCTCTACGGACACATTTCATCCAGCTCCTCCTCTACAGGGAC ATTTCTTCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCT ACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCT CCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACATTTC ATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCCTCTACAGA CAGATTTCATCCAGCTCCTCCTCTACAGACACACTTCATCCAGCTCCTCC TCTACAGACAGTTTTCTTCCAGCTCCTTGTCTACAGACACATTTCATCCA GCTCCTCCTCTATAGACACATTCCATCCAGCTCCTCCTCTACAGACACAT TTCATCCAGCTCCTCCTCTACAGGGACACTCCATCCAGATCCTCCTCTAC AGACACATTTCATCCAGCTCCTGCTCTACAGACACATTGCATCCAGCTCC TCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTCCAT CCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGGA CATTCCATCCAGCTCCTCCTCTACAGACACATTTCATACAGCTCCTCCTC TACAGAGACATTGCATCCAGCTCCTCCTCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01496.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	370	0.0054	930	c.108 others(949): Show c.1081-2129_1081-2128insCAGAGGAGGAGCTGGATGCAATGTCT CTGTAGAGGAGGAGCTGTATGAAATGTGTCTGTAGAGGAGGAGCTGGATG GAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAGGA GCTGGATGGAATGTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCTGTA GAGGAGGAGCTGGATGCAATGTGTCTGTAGAGCAGGAGCTGGATGAAATG TGTCTGTAGAGGAGGATCTGGATGGAGTGTCCCTGTAGAGGAGGAGCTGG ATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTATAGAGGA GGAGCTGGATGAAATGTGTCTGTAGACAAGGAGCTGGAAGAAAACTGTCT GTAGAGGAGGAGCTGGATGAAGTGTGTCTGTAGAGGAGGAGCTGGATGAA ATCTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCCGTAGAGGAGGAGC TGGATGAAATGTGTCTGCAGAGGAGGAGCTGGATGAAATGTGTCTGTAGA GGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGCTGGATGAAATGTG TCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAGCTGGAA GAAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCCGTAGAGGAGT AGCTGGATGAAATGTATCCTGTAGAGGAGGAGCTGGATGGAATGTATCCT GTAGAGGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGCTGGATGGA ATGTGTCTGCAGAGGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGC TGGATGGAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGCAGA GGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAACTGGATGGAATGTG TCTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0140 a0002c0003t0002g0140	1	236	0.0042	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTT ACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGG CTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0225 a0002c0002t0009g0225	1	236	0.0042	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTT ACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGG CTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGTGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0130 a0004c0006t0003g0130	1	236	0.0042	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGG CTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCACCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACGTCCC others(923): Show CACGTCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGTTGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAAAGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGC GCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTA ACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGAT GGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT ACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0210 a0002c0003t0002g0211 a0001c0001t0003g0210 a0002c0003t0002g0211	2	236	0.0085	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCG TTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTA GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCTTT ACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGG CTGTAGGGCGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGA GTGTTACCCCAGCGCCAACCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGAC GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(923): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCC AGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATA GATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTG GGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGAG TACTTTATAGATAATATGAGGGGCGGGGTAGGGGGTGTAGTTTATAGATA ATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGG CAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTT TATAGATATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	272	0.0037	930	c.109 others(949): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATAT GGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGG GTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGT AATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCG GGGCAGGGGGAGTACTTTATAGATAATATGAGGGGCGGGGTAGGGGGTGT AGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAAT ATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCA GGGGGTGCAGTTTATAGATATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(923): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGGAGGGAGGGA GGAATGGAGGAATGGAGGGATGGGGAGGGGGGAGGGGAGTGGGAGGGGGG AGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGG GGAGGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGA GGGGGAGGGGAAGGGGAAGGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGG GGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACA GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0165 a0003c0003t0012g0165	1	216	0.0046	930	c.923 others(949): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC CCTCCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCT CCCCTCCCCCCTCCCACTCCCCTCCCCCCTCCCCATCCCTCCATTCCTCC ATTCCTCCCTCCCTCCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC TCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(923): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	345	0.0029	930	c.150 others(951): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACG CCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGA CCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAG GACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAA TAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(923): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACACATAT GCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACATATGTGTGTATACAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATATATGA GTGTATATGTGTGTATATACATATATATGAGTGTATATATGTGTATATAT ACATATATATGCGTGTATATATACGTATATATGCATGTATATATGTGTAT ACATACATATATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	148	0.0068	930	c.183 others(949): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTGTATACACACATATGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACATATATACACGCGCATATGTGTGTATACACATATATACA CGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATACA CATATATACACGCGCATATGTGTGTATACACATATATACACGCATATACA CACATATATGTATGTATACACACATATACACACATATATGTATATATACA CACATATATGTATATATACACATATATACACACATATATGTATGTATACA CATATATACACACATATATGTATGTATACACATATATACACACATATATG TATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(923): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCT CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCC TCACCCCCACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	930	c.39 others(941): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIP2C_chr10_269201_694668	425029	T T	TGATACAG others(923): Show TGATACAGCATAACCAGCAGTGACTAATGACATGGATGATACAGCATGAC CAGCAGTGACTAATATGACACGGATGATACAGCATGACCAGCGTTGACTA ATATGACACAGATGATATAGCATGACCAGCGGTGACTAATATGAAATGGA TACAGCATGACCAGCGGTGACTAATATGACATGGATGATACAGCATGACC AGCAGTGACTAATATGACACAGATGATACAGCATGACCAGCAGTGACTAA TATTACACAGATGATACAGCATGACCAGCGGTGACTAATATGACAGGGAT GATACAGCATGACCAGCGGTGACTAATATGACACAGATGATACAGCATGA CCAGCAGTGACTAATATGAAATGGATACAGCATGACCAGCGGTGACTAAT ATGACATGGATAATACAGCATGACCAGCAGTGACTAATATGAAATGGATA CAACATGACCAGCGGTGACTAATATGACATGGATGATACAGCATGACCAG CGGTGACTAATATGACATGGATGATACAGCATGACCAGCAGTGACTAATA TGAAATGGATACAGCATGACCAGCAGTAACTAATATGACACAGATGATAC AACATGACCAGCAGTGACTAATATGACACAGATGATACAGTATGAGCAGC GGTGACTAATATGAAATGGATGATACAGCATGACCAGCAGTGACTAATAT GACACGGATGATACAGCATGACCAGCGGTGACTAATATGAAATGGATACA GCATGACCAGCAGTGACTAATATGACACGGATTATACAGCATGACCAGCG GTGACTAATATGACACGGATTATACAGCATGACCAGCGGTGACTAATATG ACACGGATGATACAGCATGACCAGTGGTGACTAATATGACACGGATGATA CAGCATGACCAGCGGTGACTAATATGAAACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	930	c.395 others(947): Show c.395-1997_395-1996insCGTTTCATATTAGTCACCGCTGGTCATG CTGTATCATCCGTGTCATATTAGTCACCACTGGTCATGCTGTATCATCCG TGTCATATTAGTCACCGCTGGTCATGCTGTATAATCCGTGTCATATTAGT CACCGCTGGTCATGCTGTATAATCCGTGTCATATTAGTCACTGCTGGTCA TGCTGTATCCATTTCATATTAGTCACCGCTGGTCATGCTGTATCATCCGT GTCATATTAGTCACTGCTGGTCATGCTGTATCATCCATTTCATATTAGTC ACCGCTGCTCATACTGTATCATCTGTGTCATATTAGTCACTGCTGGTCAT GTTGTATCATCTGTGTCATATTAGTTACTGCTGGTCATGCTGTATCCATT TCATATTAGTCACTGCTGGTCATGCTGTATCATCCATGTCATATTAGTCA CCGCTGGTCATGCTGTATCATCCATGTCATATTAGTCACCGCTGGTCATG TTGTATCCATTTCATATTAGTCACTGCTGGTCATGCTGTATTATCCATGT CATATTAGTCACCGCTGGTCATGCTGTATCCATTTCATATTAGTCACTGC TGGTCATGCTGTATCATCTGTGTCATATTAGTCACCGCTGGTCATGCTGT ATCATCCCTGTCATATTAGTCACCGCTGGTCATGCTGTATCATCTGTGTA ATATTAGTCACTGCTGGTCATGCTGTATCATCTGTGTCATATTAGTCACT GCTGGTCATGCTGTATCATCCATGTCATATTAGTCACCGCTGGTCATGCT GTATCCATTTCATATTAGTCACCGCTGGTCATGCTATATCATCTGTGTCA TATTAGTCAACGCTGGTCATGCTGTATCATCCGTGTCATATTAGTCACTG CTGGTCATGCTGTATCATCCATGTCATTAGTCACTGCTGGTTATGCTGTA TC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(923): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTG TGTGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTATGTGTGT GTGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTG GTGTGTGGCTATGAGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGTG TGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTC TCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTG GTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGCG TGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGG CTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTACG AGTGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGG TGTGCATCCATGAGTGTGTGTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	380	0.0026	930	c.-27 others(941): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACTCATAGCCACACACCAC GCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACACA CACATAACACATAGCACACACACATAGCCACACACCACACATTCACACAC ACTCATAGCCACACACCACACATTCACACACACTCATAGCCACACACCAC ACATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCACA CACACAATCACACACACATAACCACACACCACACACACACTAGACAGAGC ACACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACA CACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACAC TCATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCATA GCCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATGG ACACACACCACACACACAATCACACACACATAACCACACACACACTAGAC AGAGAACACACACACTCATAACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(923): Show CACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTC TGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC ACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	204	0.0049	930	c.240 others(949): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTG GGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAG AGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGT GGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGG CTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(923): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTC TGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC ACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	204	0.0049	930	c.240 others(949): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTA GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGT GGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGG CTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(923): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACAGCACACCACTCCACACACACCACACA CCACTCCACACGCCACAGCACACCACACATCACACCACACACTACCACAC CACACACCACTCCACACCACATACCACTCCACACCAAAACATACCACACC ACGCCACACCACTCCACACAACGTGCCACACACCAGCCCACACCAAACCA CACACCACACACCACACATCACTCCACACCCCAAACACACCACACACCAC TCCACACACACCACACACCACTCCACACCAAACCACACCACTCCACACCA AACCACACCATGACACACCAAACCACACCACACACATCACACCACACCAC ACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACA CCACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCA CACACACCAAACCACACCACACCACACCACTCCACACTTCACACCAAACC ACACACCCCACCACACACACTCCACACCAAACCACATCACACCACACCAC TCCACACCATACACATCACATACCACACCACACACTGCTCCACACAACAC ATCGCACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATG ACACACACCACGGCACACACCACATACCACACTCCACACCAAACCACACC ACACCATATACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0202 a0001c0004t0001g0203	2	314	0.0064	930	c.310 others(945): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTATATGGTG TGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTGTG TCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGCGA TGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGTGG AGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTGTG TGGTTTGGTGTGAAGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGTGTGT GTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTG GTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGG TGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGTGTGGT TTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGG AGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGT GTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGCG TGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGT GGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTG GTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTG TGTGGAGTGGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTG GTGTGTTGTGTGGTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGT GTGTGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTG GTTTGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
HUNK_chr21_31868020_32009064	31979522	T T	TTTTTTTT others(923): Show TTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGCGTGAT CTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCTATTCTCCAGTCT CAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCTCACCTGGCTA ATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTTC TGGGATTACAGGCATAAGCCACCACGCCCAGCTGCATTCTTTATATGTTC TTTGTCAGATGTATGGTTTACAAATATTTTATCCCATTCCATAGATCTCT TTACTCTGTCGATTATTTCCTTTGTTGTGCAGAGCTTTTGAATTTGATGT AATTACATTTGTCTATTTGTGCTTTTGTTGCCTGTGCTTTGGGAGTCATG TCCAAAAAATCATTGTCCAGACCAATGTAATGAAGCCTTTTCTGTAGGTT GTCTTCTAGTAGATTTATAGTTTTGGATCTTGTTTGTTTGTTTATTTATT TATTTTTTGAGATGAAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGG TGTGATCTCAGCTCACCATGACCTCCACCTCCTGGGTTCAAGCGATTCTT GTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCC CAGCAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCA GGATGGTCTCAATCTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGGGCCCGGCCCCTATTGGCCAT TTCTATGTCTTTTGAGAAATGTCTTCAGATCCTATGTGCACTTTTTAATT GGGTTGTTTTCTGGCTATTGAGTTGTTTGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0315 a0002c0003t0019g0315	1	328	0.0031	930	c.117 others(949): Show c.1174-3993_1174-3992insGAGATGGAGTCTTGCTCTGTCACCCA GGCTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCT ATTCTCCAGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCAC CTCACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCTGCCCACCTTGGC CTCCCAAAGTTCTGGGATTACAGGCATAAGCCACCACGCCCAGCTGCATT CTTTATATGTTCTTTGTCAGATGTATGGTTTACAAATATTTTATCCCATT CCATAGATCTCTTTACTCTGTCGATTATTTCCTTTGTTGTGCAGAGCTTT TGAATTTGATGTAATTACATTTGTCTATTTGTGCTTTTGTTGCCTGTGCT TTGGGAGTCATGTCCAAAAAATCATTGTCCAGACCAATGTAATGAAGCCT TTTCTGTAGGTTGTCTTCTAGTAGATTTATAGTTTTGGATCTTGTTTGTT TGTTTATTTATTTATTTTTTGAGATGAAGTCTCACTCTGTCACCCAAGCT GGAGTGCAGTGGTGTGATCTCAGCTCACCATGACCTCCACCTCCTGGGTT CAAGCGATTCTTGTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTG CACCACCATGCCCAGCAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTTGTGATCTGCCTGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGGGCCCGGCC CCTATTGGCCATTTCTATGTCTTTTGAGAAATGTCTTCAGATCCTATGTG CACTTTTTAATTGGGTTGTTTTCTGGCTATTGAGTTGTTTGCATTTTTTT TTTT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(923): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACAT GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATATA TATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	323	0.0031	930	c.-36 others(941): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATACATGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACA TATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(923): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACAT GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATATA TATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	323	0.0031	930	c.-36 others(941): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATACATGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACA TATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599504	G G	GTCCGGGA others(923): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCG CCCTGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCTGGCCAGCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0051 a0011c0012t0003g0051	1	334	0.0030	930	c.369 others(947): Show c.369+2865_369+2866insTGGGAAGGCTGGCCAGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(923): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTA CCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCA CTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCA CCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCA CACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGG CACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGC ATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGG GTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCA GGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCA GAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCC AGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCC CAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGC CCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGC CCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTT CCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATG GCCCAGCACACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02293.hp1 HG02486.hp2 others(3): Show HG01168.hp1 HG02293.hp1 HG02486.hp2 HG03927.hp1 NA18970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0017g0184	6	364	0.0165	930	c.418 others(947): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCT TTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGC CCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATA CTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTG CCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGG TACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAG TATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGG GTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGG GTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTG GGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATG CAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTG GGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCAT GCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAAC TGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCT GTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCT TT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(923): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACAGCCGCC CCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCA AAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCC ACAGCCACCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp1 others(1): Show HG00140.hp2 HG00280.hp1 HG00735.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0048	4	312	0.0128	930	c.-41 others(945): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACAGCCGC CCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCC AAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCC CACAGCCACCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 6036 hits)