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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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
HPCAL1_chr2_10297904_10432604	10399442	T T	TCACCACC others(779): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCA CCATCACCACCACCATCACCATCACCACCACCGCCGCCACCACCACCATC ACCATCATCACCGCCGCCACCACCACCATCACCATCATCACCGCCGCCAC CACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCACCA CCATCATCACCGCCACCACCACCACCACCATCACCATCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCATCACCACCACAACCA CCACCACCACCACCATCACCACCACAACCACCACCAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0189 a0001c0001t0002g0190	2	314	0.0064	786	c.-25 others(803): Show c.-25+2527_-25+2528insCCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCATCACCACCACCACCACC ATCACCATCATCACCACCATCACCACCACCATCACCATCACCACCACCGC CGCCACCACCACCATCACCATCATCACCGCCGCCACCACCACCATCACCA TCATCACCGCCGCCACCACCACCACCATCACCACCACCACCACCATCACC ATCACCACCACCACCACCATCATCACCGCCACCACCACCACCACCATCAC CATCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACC ATCACCACCACAACCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(779): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATAGATGGATTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	376	0.0027	786	c.666 others(803): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(779): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATAGATGGATTGGTTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	376	0.0027	786	c.666 others(803): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAT others(779): Show TGGAATATATATGGAATACATATATATGGAATATATATATGGAATACATA TATATGGAATACATATATATGGAATACACATATGGAATACATATATATGG AATACATATATGGAATACATATATATGGAATACATATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATATGGAATACATATA TGGAATACATATATGTGGAATACATATATGGAATATATATATATGTGGAA TATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATACATGGAATAT ATATATGGAATATATATACATGGAATATATATATGGAATATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATAGAATATATA CATATGGAATATATATATGGAATATATACATATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACATATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0246 a0002c0004t0002g0246	1	323	0.0031	786	c.-21 others(797): Show c.-2147_-2146insGGAATATATATGGAATACATATATATGGAATATA TATATGGAATACATATATATGGAATACATATATATGGAATACACATATGG AATACATATATATGGAATACATATATGGAATACATATATATGGAATACAT ATATGGAATACATATATATGGAATACATATATGGAATACATATATATGGA ATACATATATGGAATACATATATATGGAATACATATATGGAATACATATA TATGGAATACATATATGGAATACATATATGTGGAATACATATATGGAATA TATATATATGTGGAATATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATACATGGAATATATATATGGAATATATATACATGGAATATATATATG GAATATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATAGAATATATACATATGGAATATATATATGGAATATATACATATGG AATATATATATGGAATATATACATATGGAATATATATATGGAATATATAC ATATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(779): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGGGGG AGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCA GGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGG CTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAG GCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGA GGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGG GCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGG AGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTG GAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGG GGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp1 homoSapiens_chm13v2.hp1 HG00323.hp1 HG01258.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0002 a0001c0004t0016 a0001c0006t0002 a0001c0002t0002 a0001c0004t0016 a0001c0006t0002	a0001c0002t0002g0261 a0001c0004t0016g0223 a0001c0006t0002g0258 a0001c0002t0002g0261 a0001c0004t0016g0223 a0001c0006t0002g0258	3	282	0.0106	786	c.623 others(803): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGG AGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCA GGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCA GGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAG GCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGG GGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGG GCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGA GGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAG GGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGG GGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGA GGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(779): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	312	0.0032	786	c.-41 others(801): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCC GCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62360411	A A	AGGTGGGT others(779): Show AGGTGGGTGCGTGGGTGAATAGGTAGGGGGGTGGGTGGGTGGATAAGTGG CGGGTGGGTGGGTGCATAGGTAGGGGGGTGGGTGGCTGGGTGGATAGGTA TGGGGGTGGATGGGTCAGCAGGCAGCGGGATGGGATAGGATAGGTGGGTG GATAGGTGGGGGCTGGGTGGATAGGTGGGGGGCGGGTGGGTGGGTCAGCA GGCAGAGGGATGATGGAATAGGATGGGTGGGTGGGTGGATAGGTAGGGAG GTGGGTGAGTAGGTGGGTGGATAGGTGGGGGGGTGGGTGGGTCAGCAGGC AGCGGGATGGGATAGGATAGGTGGGTGGATGGGTGGATAGGTGGGGGGGT GGGTAGGTGGGGGGTGGGGGGTGGATAGGTAGGTGGGTGGGTGGGTGGAT AAGTTGGGGGGTGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGCAG GCAGCGGGATGGGATAGGATAGGTGGGTGGATAGGTGGGGGGTGGGTGGC TGGGTGGGTCAGCAGGTAGCAGGATGGGCTAGGATAGGTGGGTGGGTGGA TGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAAGGATA GGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGA TAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGG AGGGATAGATGGGGGGGTGGAAGGATAGGTGGGTGGGTGGGTGGAGGGAT AGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0091 a0091	a0091c0029 a0091c0029	a0091c0029t0001 a0091c0029t0001	a0091c0029t0001g0180 a0091c0029t0001g0180	1	186	0.0054	786	c.450 others(803): Show c.450+1988_450+1989insCACCCATCTATCCCTCCACCCACCCACC CCCCCATCTATCCCTCCACCCACCCACCCACCTATCCTTCCACCCCCCCA TCTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCC CCCCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTCCACCCAC CCACCCACCTATCCTTCCACCCACCCATCTATCCCTCCACCCACCCACCC ACCTATCCATCCACCCACCCACCTATCCTAGCCCATCCTGCTACCTGCTG ACCCACCCAGCCACCCACCCCCCACCTATCCACCCACCTATCCTATCCCA TCCCGCTGCCTGCTGACCCATCCACCCCCCTACCTATGCACCCACCCACC CCCCAACTTATCCACCCACCCACCCACCTACCTATCCACCCCCCACCCCC CACCTACCCACCCCCCCACCTATCCACCCATCCACCCACCTATCCTATCC CATCCCGCTGCCTGCTGACCCACCCACCCCCCCACCTATCCACCCACCTA CTCACCCACCTCCCTACCTATCCACCCACCCACCCATCCTATTCCATCAT CCCTCTGCCTGCTGACCCACCCACCCGCCCCCCACCTATCCACCCAGCCC CCACCTATCCACCCACCTATCCTATCCCATCCCGCTGCCTGCTGACCCAT CCACCCCCATACCTATCCACCCAGCCACCCACCCCCCTACCTATGCACCC ACCCACCCGCCACTTATCCACCCACCCACCCCCCTACCTATTCACCCACG CACCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360411	A A	AGGTGGGT others(779): Show AGGTGGGTGCGTGGGTGAATAGGTAGGGGGGTGGGTGGGTGGATAAGTGG CGGGTGGGTGGGTGCATAGGTAGGGGGGTGGGTGGCTGGGTGGATAGGTA TGGGGGTGGATGGGTCAGCAGGCAGCGGGATGGGATAGGATAGGTGGGTG GATAGGTGGGGGCTGGGTGGATAGGTGGGGGGCGGGTGGGTGGGTCAGCA GGCAGAGGGATGATGGAATAGGATGGGTGGGTGGGTGGATAGGTAGGGAG GTGGGTGAGTAGGTGGGTGGATAGGTGGGGGGGTGGGTGGGTCAGCAGGC AGCGGGATGGGATAGGATAGGTGGGTGGATGGGTGGATAGGTGGGGGGGT GGGTAGGTGGGGGGTGGGGGGTGGATAGGTAGGTGGGTGGGTGGGTGGAT AAGTTGGGGGGTGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGCAG GCAGCGGGATGGGATAGGATAGGTGGGTGGATAGGTGGGGGGTGGGTGGC TGGGTGGGTCAGCAGGTAGCAGGATGGGCTAGGATAGGTGGGTGGGTGGA TGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGAAGGATA GGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGA TAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGG AGGGATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGAA GGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0061 a0061	a0061c0036 a0061c0036	a0061c0036t0001 a0061c0036t0001	a0061c0036t0001g0181 a0061c0036t0001g0181	1	186	0.0054	786	c.450 others(803): Show c.450+1988_450+1989insCCCCCATCTATCCCTCCACCCACCCACC CACCTATCCTTCCACCCCCCCATCTATCCCTCCACCCACCCACCCCCCCA TCTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCC CCCCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTCCACCCAC CCACCCACCTATCCTTCCACCCACCCATCTATCCCTCCACCCACCCACCC ACCTATCCATCCACCCACCCACCTATCCTAGCCCATCCTGCTACCTGCTG ACCCACCCAGCCACCCACCCCCCACCTATCCACCCACCTATCCTATCCCA TCCCGCTGCCTGCTGACCCATCCACCCCCCTACCTATGCACCCACCCACC CCCCAACTTATCCACCCACCCACCCACCTACCTATCCACCCCCCACCCCC CACCTACCCACCCCCCCACCTATCCACCCATCCACCCACCTATCCTATCC CATCCCGCTGCCTGCTGACCCACCCACCCCCCCACCTATCCACCCACCTA CTCACCCACCTCCCTACCTATCCACCCACCCACCCATCCTATTCCATCAT CCCTCTGCCTGCTGACCCACCCACCCGCCCCCCACCTATCCACCCAGCCC CCACCTATCCACCCACCTATCCTATCCCATCCCGCTGCCTGCTGACCCAT CCACCCCCATACCTATCCACCCAGCCACCCACCCCCCTACCTATGCACCC ACCCACCCGCCACTTATCCACCCACCCACCCCCCTACCTATTCACCCACG CACCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(779): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	284	0.0035	786	c.126 others(803): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATAT GGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(779): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATTTT ATATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATTATATAATATATTATATATAATATATATTATA TATTATATATTATATAATATATATATAATATATTATATATTATATATTAT ATAATATATTATATATAATATATATTATATATTATATATTATATAATATA TAATATATAATATATATTATATATATATTATATAATATATTATATATATA ATATATTATATAATATATTATATATATAATATATATTATATATAATATAT ATAATTGTATATATAATATATAATATATAATATATAATATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATAATATATAATATATAATATATAATATATAATATATAAAATATATAT ATAAAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	86	0.0116	786	c.683 others(805): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATATATAATATATTATATATTAT ATATTATATAATATATTATATATAATATATATTATATATTATATATTATA TAATATATAATATATAATATATATTATATATATATTATATAATATATTAT ATATATAATATATTATATAATATATTATATATATAATATATATTATATAT AATATATATAATTGTATATATAATATATAATATATAATATATAATATATA TAATATATAATATATAATATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATAATATATAATATATAAAA TATATATATAAAATATATTATGTATTATATATTATATAATATATTATATA TAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(779): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATAGTC ATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATATAT AGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTAT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAT AGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAG TTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTATGTAAAACTATAGTTATATATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	422	0.0024	786	c.-30 others(797): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATATGTA TATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATAGTTATATA TGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATG TATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAA AC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(779): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTAT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAT AGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAG TTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTATGTAAAACTATAGTTATATATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	422	0.0024	786	c.-30 others(797): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATAGTTATATA TGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATG TATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAA AC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(779): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02559.hp2 HG03579.hp2 HG00639.hp1 HG02559.hp2 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0018 a0001c0001 a0011c0018	a0001c0001t0001 a0011c0018t0001 a0001c0001t0001 a0011c0018t0001	a0001c0001t0001g0093 a0001c0001t0001g0103 a0011c0018t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0103 a0011c0018t0001g0083	3	228	0.0132	786	c.337 others(805): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG TTTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MCF2L_chr13_112964214_113104742	113101123	C C	CGGCTCAC others(779): Show CGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCC CAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAATT AGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCA TGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAA AAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACT TTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGG CGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCA GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0018 a0001c0001t0023g0018	1	116	0.0086	786	c.42 others(797): Show c.4264_*4265insGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGC CGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGC TCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAT TAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCC GGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCG GCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCGGTGGCTCACGCC TGTCATCCCAGCACTTTGGGAGGCCGAGGCGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTATTAAAAAT ACAAAATTAGCCGGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGG GAGGCCGAGGCGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGGGCGCG GT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding		1382		chr13	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(779): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCCTCTCACCCGCTACCCCCTGCCCCCGGCTCTCACCCCGCTACCCCT GCCCCCGCTCTCACCCGCTACCCCCGGCCCCGCGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACACCCGGCCCCCCGGCTCTCACCCG CTACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCC CTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCT CACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	394	0.0025	786	c.-8+ others(799): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGGCCGGGTGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGG GGCCGGGGTAGGAGGTGAGAGCGCGGGGCCGGGGGTAGCGGGTGAGAGCG GGGGCAGGGGTAGCGGGGTGAGAGCCGGGGGCAGGGGGTAGCGGGTGAGA GGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGG GTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(779): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAGATT TTATATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	330	0.0030	786	c.-5+ others(801): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATCTTATATATATATAAAATCTTATTTTATATATATATAAAA TCTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTT ATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATA TATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATAT ATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATA TATATCAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(779): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0022 a0022	a0022c0101 a0022c0101	a0022c0101t0001 a0022c0101t0001	a0022c0101t0001g0130 a0022c0101t0001g0130	1	249	0.0040	786	c.148 others(805): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGATGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGT GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTT CCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCG CTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(779): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0021 a0021	a0021c0039 a0021c0039	a0021c0039t0001 a0021c0039t0001	a0021c0039t0001g0124 a0021c0039t0001g0124	1	249	0.0040	786	c.148 others(805): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACACCTT CCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGT GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTT CCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCG CTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690423	A A	AGTATATA others(779): Show AGTATATACATAAATATATATATTTAAATATAAGTATATACATAAATATA TATATTTAAATATAAGTATATACATAAATATATATATTTAAATATAAATA TATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATA TATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAA TATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGCATATAAATATATATATTTCAATATAAGTATGCATATAAATATATA TATTTCAATATAAGTATGCATATAAATATATATATTTCAATATAAGTATG CATATAAATATATATATTTCAATATAAGTATGCATATAAATATATATATT TCAATATAAGTATGCATATAAATATATATATTTCAATATAAGTATGCATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAG TATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATATT TCAATATAAGTATATATATAAATATATATATTTCAATATAAGTATATATA TAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0020 a0001c0001t0028g0020	1	326	0.0031	786	c.358 others(803): Show c.358+3155_358+3156insGTATATACATAAATATATATATTTAAAT ATAAGTATATACATAAATATATATATTTAAATATAAGTATATACATAAAT ATATATATTTAAATATAAATATATATTTCAATATAAGTATATATAAATAT ATATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTAT ATATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCA ATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAA ATATATATATTTCAATATAAGTATGCATATAAATATATATATTTCAATAT AAGTATGCATATAAATATATATATTTCAATATAAGTATGCATATAAATAT ATATATTTCAATATAAGTATGCATATAAATATATATATTTCAATATAAGT ATGCATATAAATATATATATTTCAATATAAGTATGCATATAAATATATAT ATTTCAATATAAGTATGCATATAAATATATATATTTCAATATAAGTATGT ATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTT CAATATAAGTATATAAAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAATATATATATTTCAATATAAGTATATATATAAATATATAT ATTTCAATATAAGTATATATATAAATATATATATTTAAATATAAGTATAT ATAAAAAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(779): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCCTCTCACCCGCTACCCCCTGCCCCCGGCTCTCACCCCGCTACCCCT GCCCCCGCTCTCACCCGCTACCCCCGGCCCCGCGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACACCCGGCCCCCCGGCTCTCACCCG CTACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCC CTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCT CACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	786	c.15 others(797): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGG TAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGGCCGGGTGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCGCGGGGCCGGGGGTAGCGGGTGAGAGCGGG GGCAGGGGTAGCGGGGTGAGAGCCGGGGGCAGGGGGTAGCGGGTGAGAGG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTGTAGTT others(779): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTA GTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAG GGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTGGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	286	0.0035	786	c.335 others(805): Show c.335-10909_335-10908insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCG TGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATG GCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTA GGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(779): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATA CATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTA TATGTAATATATATTATACATTATTATATAAGCATATAATATATAATACA TAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0139 a0001c0001t0068g0139	1	220	0.0046	786	c.24+ others(803): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACATTATACATTATTATAT AAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATATA TTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATAT AAGCATATAATATATAATACATAATACATTATATATAAGCATATAACAAT ACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(779): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAAGCTAACTTATAACTTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	304	0.0033	786	c.66+ others(801): Show c.66+3414_66+3415insAGCTAACTTATAACTTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SAMD11_chr1_918923_949574	934437	G G	GGCTGCGT others(779): Show GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0194 a0003c0006t0003g0194	1	434	0.0023	786	c.843 others(803): Show c.843-1332_843-1331insGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCG GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(779): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	370	0.0027	786	c.284 others(805): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC12A7_chr5_1045384_1117063	1082030	A A	AGGCTTCC others(779): Show AGGCTTCCCGTCTCGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGGTTC TGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGGGAAGTCCGGGCTTCC CGTCTCAGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGGTTCTGGAAAGT CCGGGCTTCCTCTCTAGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGGT TCTGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGAAAGCCTGGGCTTC CTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGGTTCTGGAAAG CCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGG TTCTGGAAAGCCTGGGCTTCCCATCTCAGGTTCTGGAAAGTCCAGGCTTC CCGTCTTGGGTTCTGGAAAGCCTGGGCTTCCCATCTTGGGTTCTGGAAAG CCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCCGTCTCGG GTTCTGGGGAAGTCCGGGCTTCCCGTCTCAGGTTCTGGAAAGTCCGGGCT TCCCGTCTCGGGTTCTGGAAAGTCCGGGCTTCCTCTCTAGGGTTCTGGAA AACCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCCGTCTC GGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGC TTCCCGTCTCGGGTTCTGGAAAGTCCAGGCTTCCCGTCTCGGGTTCTGGA AAGTCCAGGCTTCCCGTCTCGGGTTCTGGAAAGCCTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	118	0.0085	786	c.113 others(803): Show c.1130-287_1130-286insCAGGCTTTCCAGAACCCGAGACGGGAAG CCTGGACTTTCCAGAACCCGAGACGGGAAGCCTGGACTTTCCAGAACCCG AGACGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTT CCAGAACCCGAGACGGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAA GCCCAGGTTTTCCAGAACCCTAGAGAGGAAGCCCGGACTTTCCAGAACCC GAGACGGGAAGCCCGGACTTTCCAGAACCTGAGACGGGAAGCCCGGACTT CCCCAGAACCCGAGACGGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGG AAGCCCAGGCTTTCCAGAACCCAAGATGGGAAGCCCAGGCTTTCCAGAAC CCAAGACGGGAAGCCTGGACTTTCCAGAACCTGAGATGGGAAGCCCAGGC TTTCCAGAACCCGAGACGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGG AAGCCCAGGCTTTCCAGAACCCGAGACGGGAAGCCCGGACTTTCCAGAAC CCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCGAGACGGGGAAGCCCGGA CTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCTAGAGAG GAAGCCCGGACTTTCCAGAACCCGAGACGGGAAGCCCGGACTTTCCAGAA CCTGAGACGGGAAGCCCGGACTTCCCCAGAACCCGAGACGGGGAAGCCCG GACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCGAGAC GGGAAGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23			chr5	TogoVar
SLC1A2_chr11_35246205_35424558	35248646	G G	GATTACTA others(779): Show GATTACTAGCAGTGCATGGATCACCTGGGGATTACTAGTGGTGCATGGAT CACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGT GCATGGATAACCTGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTA CTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCA GGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATG GATCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGC AGTGCATGGATCACCAGGGGATTACTAGCAGTGTATGGATCACCAGGGGA TTACTAGCGGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAACAGTGC ATGGATCACGAGGGTATTACTAGCAGTGCATGGATCACCAGGGGATTACA AGCGGTGTATGGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGG GGATTATTAGCGGTGCATGGATCACCAGGTGATTACTAGCAGTGCATGGA TCACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACAAGCGG TGTATGGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATT ATTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACC AGGGGATTACTAGCGGTGCATGGATCACCAGGGGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02572.hp2 others(8): Show HG02055.hp1 HG02257.hp1 HG02572.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0021 a0001c0003t0014 others(3): Show a0001c0001t0009 a0001c0001t0021 a0001c0003t0014 a0001c0003t0016 a0001c0003t0029 a0001c0003t0057	a0001c0001t0009g0232 a0001c0001t0021g0206 a0001c0003t0014g0241 others(8): Show a0001c0001t0009g0232 a0001c0001t0021g0206 a0001c0003t0014g0241 a0001c0003t0014g0280 a0001c0003t0014g0281 a0001c0003t0014g0285 a0001c0003t0016g0094 a0001c0003t0016g0095 a0001c0003t0029g0213 a0001c0003t0029g0214 a0001c0003t0057g0119	11	306	0.0360	786	c.12 others(799): Show c.12247_*12248insAATCCCCTGGTGATCCATGCACCGCTAGTAAT CCCCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCACTG CTAATAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTAGTGATCC ATACACCGCTTGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCT GGTGATCCATGCACTGCTAGTAATCACCTGGTGATCCATGCACCGCTAAT AATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTAGTGATCCATACA CCGCTTGTAATCCCCTGGTGATCCATGCACTGCTAGTAATACCCTCGTGA TCCATGCACTGTTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCC CCTGGTGATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACCGCT AGTAATCCCCTGGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCAT GCACTGCTAGTAATCCCCTGGTGATCCATGGACCGCTAGTAATCCCCTGG TGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAA TCACCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCACT GCTAGTAATCCCCAGGTGATCCATGGACTGCTAGTAATCCCCAGGTTATC CATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACC TGGTGATCCATGCACCACTAGTAATCCCCAGGTGATCCATGCACTGCTAG TAAT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2558		chr11	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(779): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGG AGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAG GGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGG AGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGG AGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAG AGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGG AGGCAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAG GGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGG AGAGGGAGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGG AGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0012 a0001c0051t0012	a0001c0051t0012g0005 a0001c0051t0012g0005	1	132	0.0076	786	c.227 others(805): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCC TCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTG CCTCCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(779): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAGGGAGGGAG CGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGG AGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAG GGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGG AGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGG AGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAG AGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGG AGGCAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAG GGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGG AGAGGGAGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGG AGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0012 a0006c0034t0012	a0006c0034t0012g0046 a0006c0034t0012g0046	1	132	0.0076	786	c.227 others(805): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCGCTCCCTCCCTGCC TCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTG CCTCCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(779): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTAAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATGG GTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTTGGGTG AGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGGGTGAG GGTGGATGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAGGGTAG AGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGTTGTAG ATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTGGGGGT TGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03492.hp1 HG03834.hp2 others(1): Show HG02602.hp2 HG03492.hp1 HG03834.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177	4	180	0.0222	786	c.128 others(805): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTAAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGG TTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTAT GGGTGAGGGTGGATGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTG AGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAG GTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAG TGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAAGGGTG GAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(779): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATGG GTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTTGGGTG AGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTATGGGTGAG GGTGGATGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGAGGGTAG AGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGTTGTAG ATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGTGGGGGT TGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(46): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02293.hp1 HG02896.hp1 HG03490.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18990.hp1 NA18990.hp2 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(46): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0015g0163 a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0023 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0066 a0001c0002t0008g0045 a0001c0002t0008g0047	49	180	0.2722	786	c.128 others(805): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGATGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGG TTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATAGTAT GGGTGAGGGTGGATGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTG AGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAG GTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAG TGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATAAGGGTG GAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(779): Show GGTGGTGGTCATGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGA TGGTGGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATG GTGATGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGAT GGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGG TGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTG GTGATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGT GATGGCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGA TGGTGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATA GTGATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGT GGTAAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGG TGATGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTA AGGATGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGT GTTAAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02280.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG03540.hp1 HG06807.hp2	a0002 a0010 a0018 others(1): Show a0002 a0010 a0018 a0020	a0002c0041 a0010c0031 a0010c0053 others(4): Show a0002c0041 a0010c0031 a0010c0053 a0010c0080 a0010c0091 a0018c0087 a0020c0086	a0002c0041t0143 a0010c0031t0020 a0010c0053t0020 others(4): Show a0002c0041t0143 a0010c0031t0020 a0010c0053t0020 a0010c0080t0146 a0010c0091t0149 a0018c0087t0148 a0020c0086t0147	a0002c0041t0143g0003 a0010c0031t0020g0095 a0010c0031t0020g0096 others(6): Show a0002c0041t0143g0003 a0010c0031t0020g0095 a0010c0031t0020g0096 a0010c0031t0020g0301 a0010c0053t0020g0196 a0010c0080t0146g0053 a0010c0091t0149g0122 a0018c0087t0148g0045 a0020c0086t0147g0058	9	384	0.0234	786	c.272 others(805): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTACC CTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCAC CATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCA TGACCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(779): Show GGTGGTGGTCATGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGA TGGTGGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATG GTGATGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGAT GGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGG TGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTG GTGATGGTGATAGTAATGATGATGGTGGAGGTAGAGATGGTGGTGGTGGT GATGGCGAGGGTAATGGTGGTAAGGATGAGTGCGATGGTTATGGTGGTGA TGGTGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATA GTGATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGT GGTAAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGG TGATGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTA AGGACGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGT GTTAAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG03486.hp2 others(1): Show HG02572.hp1 HG03486.hp1 HG03486.hp2 NA19030.hp2	a0001 a0016 a0037 a0001 a0016 a0037	a0001c0011 a0016c0030 a0037c0046 a0001c0011 a0016c0030 a0037c0046	a0001c0011t0169 a0016c0030t0168 a0016c0030t0170 others(1): Show a0001c0011t0169 a0016c0030t0168 a0016c0030t0170 a0037c0046t0171	a0001c0011t0169g0078 a0016c0030t0168g0309 a0016c0030t0170g0086 others(1): Show a0001c0011t0169g0078 a0016c0030t0168g0309 a0016c0030t0170g0086 a0037c0046t0171g0221	4	384	0.0104	786	c.272 others(805): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCGTCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATAACCATCGCACTCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCATTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTACC CTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCAC CATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCA TGACCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(779): Show GGTGGTGGTCGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGA TGGTGGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATG GTGATGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGAT GGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGG TGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTG GTGATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGT GATGGCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGA TGGTGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATA GTGATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGT GGTAAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGG TGATGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTA AGGATGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGT GTTAAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(86): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG03453.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18999.hp1 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1 NA19074.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0013 a0023 a0025 a0029 a0031 a0035	a0001c0001 a0001c0011 a0001c0019 others(33): Show a0001c0001 a0001c0011 a0001c0019 a0001c0058 a0001c0077 a0001c0082 a0002c0002 a0002c0007 a0002c0038 a0002c0057 a0002c0061 a0002c0090 a0003c0004 a0003c0006 a0003c0014 a0003c0050 a0003c0059 a0003c0072 a0004c0003 a0004c0005 a0004c0084 a0005c0029 a0006c0018 a0006c0079 a0007c0013 a0007c0043 a0007c0051 a0007c0055 a0008c0008 a0008c0092 a0013c0040 a0023c0069 a0025c0095 a0029c0081 a0031c0073 a0035c0070	a0001c0001t0013 a0001c0001t0037 a0001c0011t0024 others(74): Show a0001c0001t0013 a0001c0001t0037 a0001c0011t0024 a0001c0019t0027 a0001c0058t0010 a0001c0077t0104 a0001c0082t0066 a0002c0002t0003 a0002c0002t0005 a0002c0002t0015 a0002c0002t0016 a0002c0002t0025 a0002c0002t0046 a0002c0002t0076 a0002c0002t0085 a0002c0002t0087 a0002c0002t0089 a0002c0002t0138 a0002c0002t0140 a0002c0002t0141 a0002c0002t0164 a0002c0007t0002 a0002c0007t0010 a0002c0007t0083 a0002c0038t0002 a0002c0057t0074 a0002c0061t0002 a0002c0090t0134 a0003c0004t0002 a0003c0004t0005 a0003c0004t0014 a0003c0004t0016 a0003c0004t0032 a0003c0004t0084 a0003c0004t0086 a0003c0004t0133 a0003c0004t0202 a0003c0006t0003 a0003c0006t0005 a0003c0006t0006 a0003c0006t0016 a0003c0006t0036 a0003c0006t0131 a0003c0006t0137 a0003c0006t0165 a0003c0014t0001 a0003c0014t0010 a0003c0014t0073 a0003c0050t0080 a0003c0059t0078 a0003c0072t0002 a0004c0003t0002 a0004c0003t0027 a0004c0005t0027 a0004c0005t0105 a0004c0084t0024 a0005c0029t0069 a0006c0018t0103 a0006c0079t0088 a0007c0013t0015 a0007c0013t0154 a0007c0043t0014 a0007c0043t0082 a0007c0051t0075 a0007c0055t0081 a0008c0008t0002 a0008c0008t0005 a0008c0008t0010 a0008c0008t0142 a0008c0008t0194 a0008c0092t0014 a0013c0040t0002 a0023c0069t0036 a0025c0095t0002 a0029c0081t0090 a0031c0073t0002 a0035c0070t0038	a0001c0001t0013g0147 a0001c0001t0037g0186 a0001c0011t0024g0060 others(86): Show a0001c0001t0013g0147 a0001c0001t0037g0186 a0001c0011t0024g0060 a0001c0011t0024g0350 a0001c0019t0027g0239 a0001c0058t0010g0166 a0001c0077t0104g0132 a0001c0082t0066g0233 a0002c0002t0003g0019 a0002c0002t0003g0025 a0002c0002t0003g0121 a0002c0002t0003g0170 a0002c0002t0005g0093 a0002c0002t0005g0126 a0002c0002t0005g0339 a0002c0002t0015g0183 a0002c0002t0016g0272 a0002c0002t0025g0371 a0002c0002t0046g0287 a0002c0002t0076g0216 a0002c0002t0085g0109 a0002c0002t0087g0340 a0002c0002t0089g0200 a0002c0002t0138g0114 a0002c0002t0140g0130 a0002c0002t0141g0101 a0002c0002t0164g0175 a0002c0007t0002g0294 a0002c0007t0010g0244 a0002c0007t0083g0007 a0002c0038t0002g0084 a0002c0057t0074g0140 a0002c0061t0002g0082 a0002c0090t0134g0181 a0003c0004t0002g0115 a0003c0004t0005g0137 a0003c0004t0005g0252 a0003c0004t0005g0273 a0003c0004t0014g0017 a0003c0004t0014g0091 a0003c0004t0016g0255 a0003c0004t0016g0256 a0003c0004t0032g0174 a0003c0004t0084g0028 a0003c0004t0086g0139 a0003c0004t0133g0145 a0003c0004t0202g0266 a0003c0006t0003g0341 a0003c0006t0005g0036 a0003c0006t0006g0274 a0003c0006t0016g0254 a0003c0006t0036g0128 a0003c0006t0131g0296 a0003c0006t0137g0157 a0003c0006t0165g0250 a0003c0014t0001g0280 a0003c0014t0010g0062 a0003c0014t0010g0211 a0003c0014t0010g0234 a0003c0014t0073g0112 a0003c0050t0080g0104 a0003c0059t0078g0203 a0003c0072t0002g0020 a0004c0003t0002g0164 a0004c0003t0027g0218 a0004c0005t0027g0354 a0004c0005t0105g0116 a0004c0084t0024g0361 a0005c0029t0069g0319 a0006c0018t0103g0022 a0006c0079t0088g0049 a0007c0013t0015g0119 a0007c0013t0154g0324 a0007c0043t0014g0295 a0007c0043t0082g0238 a0007c0051t0075g0033 a0007c0055t0081g0229 a0008c0008t0002g0135 a0008c0008t0005g0269 a0008c0008t0010g0131 a0008c0008t0142g0260 a0008c0008t0194g0265 a0008c0092t0014g0328 a0013c0040t0002g0226 a0023c0069t0036g0162 a0025c0095t0002g0220 a0029c0081t0090g0055 a0031c0073t0002g0077 a0035c0070t0038g0258	89	384	0.2318	786	c.272 others(805): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTACC CTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCAC CATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCA CGACCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
TCF3_chr19_1604292_1657615	1628289	G G	GGGGGTGA others(779): Show GGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAG AGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGG GACAGCAGAACTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCAGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0030 a0003c0011t0030	a0003c0011t0030g0139 a0003c0011t0030g0139	1	352	0.0028	786	c.299 others(801): Show c.299-864_299-863insTCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCTGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGTTC TGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCG CCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCC GTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747269	G G	GCTGGGGT others(779): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0269 a0001c0001t0015g0269	1	314	0.0032	786	c.189 others(803): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(779): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCTGCTC TGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTC CTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTC TCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCC TCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTT CTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTC CTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTCTCCT CCTCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTC CTCCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCT CTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	384	0.0026	786	c.424 others(803): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCCTCC TCCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCC TCCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCC CTCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTC TTCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCC TCCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCC TCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCT CCCCTCTCCTCCTCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTCTC CCTCCTCCTCCTCCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTT CCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTC CTCTCCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCC TCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCC TCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACGTA others(779): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATGTATATATACATGTATTATACATACGTAAATGTATATATGTAT ATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGTA TTATACATACGTAAATGTATAATGTATATATACATGTATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATATATATACATTATACATACGTA AATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0269	1	388	0.0026	786	c.-23 others(803): Show c.-23+2684_-23+2685insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATACATGTATATATACATTATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(779): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATATACTATATCATCATATGA TATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0116 a0001c0001t0023g0116	1	174	0.0058	786	c.41- others(803): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT ATACTATATCATCATATGATATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870357	A A	ACACACAC others(779): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCA CACCCCACACACACCACACCCCATACACACCACACCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	338	0.0030	786	c.35 others(805): Show c.35+21631_*35+21632insCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCTACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(779): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAG GAAAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGAGAAGGGTGG GGAGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGAGAA GGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAG GGGAGGAAAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGAAGGG TGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGAG GAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTG GGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAG GGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGG GTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGG GGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGG GGGGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0033	1	126	0.0079	786	c.-28 others(805): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTT CTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTTTCCT CCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCA CCCTTCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTCC CCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCTCCCCACCCTTCTCC TCCCCTCCCCACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTTTCCTCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCC CCTCCCCACCCTTCTCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCT TCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTTTCCTCCCCTCC CCACCCTTTTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTC CCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCC ACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCCCCCT others(779): Show CCCCCCCTCCCCTCCCCTCCTTCCCCCCCTCCCCTCCCCTCCTTCCCCCC TCCCCTCCCCTCCTTCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCC CCTTCCTCATCCCTCCCCCTCCCCTCCCTCCTTCCTCCTCCTCCCTCCCC CCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCTCCCCCTTCTTCCTCCCCC TTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCT CCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCC TCCTCCCCTCCCCCTCCCCTCCCCCCTTCCTCCTCCCCTTCCCCTTCCCC TTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTTCCC TCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACC CTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTC CCCCTCCCCTCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCCTCCCTCCC CTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCCTCC TCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCC CCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTT CCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCC CCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	322	0.0031	786	c.4-1 others(799): Show c.4-1385_4-1384insCTCCCCTCCCCTCCTTCCCCCCCTCCCCTCCC CTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCCCCTTCCTCATCCCTCCCCCTCCCCTCCCTCCTTCCTCC TCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCTCCCCCT TCTTCCTCCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCT CTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCC CCTCCCCCTTCCTCCTCCCCTCCCCCTCCCCTCCCCCCTTCCTCCTCCCC TTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCC CCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGT CCCCTCCTCCTCCCCCTCCCCTCCCCTCCCCCTCCTCCCTCCCCCTCCCC TCCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC TCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCC CCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCC CCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTC ACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTC CCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(779): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCC TCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCC CTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCC CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCC TCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCT TCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCC TCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCT CCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	322	0.0031	786	c.4-1 others(799): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCC TCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCC TCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCC TCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCAT CTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCC TCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACC TCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(779): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCT TCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCCTCCCCTACCCTCCTCC CTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCC CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCC TCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCT TCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCC TCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCT CCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	322	0.0031	786	c.4-1 others(799): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCC CCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCC CTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCC TCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCC TCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCC TCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCAT CTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCC TCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACC TCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113418984	C C	CTCCCTCC others(780): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTCTCCTTCCCTCCCTCCCTC CCTCCCTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTC CCTTCCTTCTTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTCTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTCTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTC TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTTCTT CCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0041 a0019c0028t0041	a0019c0028t0041g0260 a0019c0028t0041g0260	1	262	0.0038	787	c.106 others(806): Show c.1061+3841_1061+3842insAGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGA GGGAGGGAAGGAGAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAGAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA GAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGG AAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(780): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC ACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	391	0.0026	787	c.36 others(798): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
C2CD4C_chr19_400445_414147	404604	A A	AGGGGGGG others(780): Show AGGGGGGGGAGGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCC CTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCT GCCCCGAGGGGTGTGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAG GGGGGGGACGGGGCCCTGTCCCGAGGGGTCTGAGGGGGAGACGGGTCCTG CCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGG GGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGC CCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTG CCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGGGG GGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGG TGTGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0127 a0001c0002t0064g0127	1	322	0.0031	787	c.24 others(798): Show c.2491_*2492insCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCC CACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCC TCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGGACAGGACCCCGT CCCCCCCCCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTC AGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTC CCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCT CGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCC CCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTC GGGGCAGGACCCGTCTCCCCCTCAGACCCCTCGGGACAGGGCCCCGTCCC CCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCCCACACCCCTCG GGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCGTCCC CCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGG ACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCCTCCCCC CCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		840		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(780): Show TCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC GTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC GTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0186 a0005c0003t0001g0186	1	338	0.0030	787	c.300 others(804): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882452	G G	GGGAGAAG others(780): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCAGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	288	0.0035	787	c.303 others(806): Show c.303+23669_303+23670insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCTGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCT GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CHRNA3_chr15_78590309_78625996	78599769	A A	ACTTTGGA others(780): Show ACTTTGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCGAGACC AGCCTGGGCAACACAGTGAGACCCCCCCCCACCCACCCACCGACCTCTTC AAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTAGTCCCA GCTATTTGGGAGGCTGAGGTTGGTGGATCGCTTGAGCCCAGGAGTTAGAG GCTACAGTGAGCTACGATGGCTCACTGCACTCCAATGTGGATGACAGAGC AAGACTGTCCAAAAAAAAAAAAAAAAAATTAAAAAAGGCTAAAAATTTTA TTGCAGTACTCATTTTATTTTTTTATTTTTTTTGGGTAGAAATAGGGTTT TGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCCTCAAGCGATCTAC CCATCTCAGCCTCCAAAGTGCTGGATTATAGGCATGAGCACTTTACCCAT CCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGGTCTCACTATGT TGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCCTCCTGCTTTGG CCTTCCAAAATGCTGGGATTACAGGTGTGAGCACTGTGCCTGGCCATAGC ACTCACTTAAGAGAGAGTAGCTGGATACAAAACTCTTCAGCTAAGACTGA AGTTCCAACATCAGGGACCAAACAGCCCCGGCCCTCAGCTACGGGAAAAG TTTATATACTATGTGATTTCATTTTATATGAACTCAAGAATAGTAAAACT GGCCGGGTTGCAGTGGCTCAACACCTGTTAATCCAGCT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	410	0.0024	787	c.138 others(806): Show c.1389+1483_1389+1484insAGCTGGATTAACAGGTGTTGAGCCAC TGCAACCCGGCCAGTTTTACTATTCTTGAGTTCATATAAAATGAAATCAC ATAGTATATAAACTTTTCCCGTAGCTGAGGGCCGGGGCTGTTTGGTCCCT GATGTTGGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTC TCTTAAGTGAGTGCTATGGCCAGGCACAGTGCTCACACCTGTAATCCCAG CATTTTGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGA CCAGCCTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAA TAAAAGTGAGGGATGGGTAAAGTGCTCATGCCTATAATCCAGCACTTTGG AGGCTGAGATGGGTAGATCGCTTGAGGCCCAGGAGTTCAAGACCAGCCTG GGCAACATGGCAAAACCCTATTTCTACCCAAAAAAAATAAAAAAATAAAA TGAGTACTGCAATAAAATTTTTAGCCTTTTTTAATTTTTTTTTTTTTTTT TTGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCACCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGTGGGGGGGGGTCTCACTGT GTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCTT GGCCTCCAAAG	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar

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Search Results (Total: 8931 hits)