Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(395): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCATCACCATCACCACCATTACCATC ACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCAC CACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCA CCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAC CAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0056 a0002c0001t0056	a0002c0001t0056g0078 a0002c0001t0056g0078	1	330	0.0030	402	c.691 others(417): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGATGGTAATGGTGGTGATGGTGATGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGAT GGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87738668	T T	TCCACACA others(395): Show TCCACACACCAGCACCTCATCCATCCGCACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCAC ACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0257 a0006c0006t0001g0257	1	380	0.0026	402	c.507 others(419): Show c.507-8025_507-8024insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGCG GATGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738691	T T	TCCGCACA others(395): Show TCCGCACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	380	0.0026	402	c.507 others(419): Show c.507-8048_507-8047insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG ATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738848	T T	TCCACACA others(395): Show TCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCACCCACACA CCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02559.hp1 HG02896.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0004 a0007c0009t0004 a0001c0001t0004 a0007c0009t0004	a0001c0001t0004g0033 a0007c0009t0004g0034 a0001c0001t0004g0033 a0007c0009t0004g0034	2	380	0.0053	402	c.507 others(419): Show c.507-8205_507-8204insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(395): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG01243.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0150 a0001c0001t0001g0019 a0001c0001t0001g0150	2	380	0.0053	402	c.507 others(419): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATACTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(395): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	402	c.-27 others(413): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360429	A A	ATAGGGAG others(395): Show ATAGGGAGGGGGTGGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGC AGGCAGCGGGATGGGATAGGATAGGTGGGTGGGTGGAGGGATAGATGGGT GGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGG GTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGGGGGTGGGTGG GTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGT GGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0157 a0024c0017t0001g0157	1	186	0.0054	402	c.450 others(419): Show c.450+1970_450+1971insCCCACCCACCTACCTATCCTTCTACCCA CCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATTCCTC CACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTA TCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCACCCACCCA CCTATCCTATCCCATCCCGCTGCCTGCTGACCCATCCACCCCCCTACCTA TGCACCCACCCCACCCCCTCCCTA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(395): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCC CACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCAC ACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	308	0.0033	402	c.66 others(413): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT CTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACAC AGCCCACACCCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(395): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGG AGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGG GTGCAGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG TGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	260	0.0039	402	c.717 others(419): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGATGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGCG GGTGCGGGTGCAGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(395): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTG CTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG02622.hp2 others(11): Show HG01358.hp1 HG02109.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp1 NA18972.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0004c0005t0001 a0001c0001t0001 a0001c0001t0004 a0004c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0281 a0001c0001t0001g0285 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0308 a0001c0001t0004g0009 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0334 a0004c0005t0001g0284 a0004c0005t0001g0312 a0004c0005t0001g0337	14	358	0.0391	402	c.116 others(417): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTG CAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAG TAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCT GACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(395): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTG CTA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	358	0.0028	402	c.116 others(417): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTG CAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAG TAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCT GACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LMF1_chr16_848634_975984	953921	A A	AACCAGCC others(395): Show AACCAGCCTCCTACACGTTCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTTCACACAGACACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT ACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTGCACGTCCACACAGACACCCACCC CAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0045 a0001c0013t0001g0045	1	294	0.0034	402	c.503 others(417): Show c.503+435_503+436insGTGGGGTGGGTGTCTGTGTGGACGTGCAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGAACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGAACGTGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTG TGTGAACGTGTAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(395): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTACTACATA CCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTAC TACATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0269 a0001c0008t0001g0269	1	296	0.0034	402	c.368 others(419): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTAT GTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCC GGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MALRD1_chr10_19043801_19739478	19238068	T T	TAATTATC others(395): Show TAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATTTTATA TGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTA TATGTAGTTATATATAATTATATATAATGATATATAATTTATATACTTAT AAATATGTAATTATATATGTTATAATTATAAATATATATAATATAAATAT ACAATACATTTTATATAATATATAATATATAGTATAATACAAAATATACA TTATAATATATTATAATATATAATATATAATACATATATTATATAAAAAT ACTATAATATATAATAATATATATTATAATATATATAATATATAATAATA TATTATAATATATATTATAATATAGTATAATATATATATTATAATTTATA CTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp1 others(19): Show HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02074.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp2 NA18964.hp1 NA19043.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1	a0001 a0004 a0005 others(16): Show a0001 a0004 a0005 a0007 a0010 a0015 a0016 a0021 a0027 a0029 a0030 a0046 a0050 a0051 a0052 a0053 a0055 a0059 a0071	a0001c0001 a0004c0005 a0005c0012 others(17): Show a0001c0001 a0004c0005 a0005c0012 a0005c0111 a0007c0008 a0010c0025 a0015c0016 a0016c0038 a0021c0011 a0027c0019 a0029c0021 a0030c0022 a0046c0035 a0050c0049 a0051c0037 a0052c0050 a0053c0051 a0055c0074 a0059c0064 a0071c0121	a0001c0001t0001 a0004c0005t0001 a0005c0012t0002 others(17): Show a0001c0001t0001 a0004c0005t0001 a0005c0012t0002 a0005c0111t0002 a0007c0008t0001 a0010c0025t0001 a0015c0016t0001 a0016c0038t0001 a0021c0011t0001 a0027c0019t0002 a0029c0021t0002 a0030c0022t0002 a0046c0035t0001 a0050c0049t0001 a0051c0037t0001 a0052c0050t0002 a0053c0051t0002 a0055c0074t0001 a0059c0064t0001 a0071c0121t0002	a0001c0001t0001g0057 a0001c0001t0001g0129 a0004c0005t0001g0094 others(19): Show a0001c0001t0001g0057 a0001c0001t0001g0129 a0004c0005t0001g0094 a0005c0012t0002g0073 a0005c0111t0002g0090 a0007c0008t0001g0061 a0010c0025t0001g0095 a0015c0016t0001g0096 a0016c0038t0001g0120 a0021c0011t0001g0102 a0027c0019t0002g0071 a0027c0019t0002g0072 a0029c0021t0002g0092 a0030c0022t0002g0093 a0046c0035t0001g0126 a0050c0049t0001g0022 a0051c0037t0001g0121 a0052c0050t0002g0019 a0053c0051t0002g0065 a0055c0074t0001g0139 a0059c0064t0001g0152 a0071c0121t0002g0078	22	152	0.1447	402	c.299 others(423): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTT TTACATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATATAT AATGATATATAATTTATATACTTATAAATATGTAATTATATATGTTATAA TTATAAATATATATAATATAAATATACAATACATTTTATATAATATATAA TATATAGTATAATACAAAATATACATTATAATATATTATAATATATAATA TATAATACATATATTATATAAAAATACTATAATATATAATAATATATATT ATAATATATATAATATATAATAATATATTATAATATATATTATAATATAG TATAATATATATATTATAATTTATACTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238068	T T	TAATTATC others(395): Show TAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATTTTATA TGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTA TATGTAGTTATATATAATTATATATAATTATATATAATTTATATACTTAT AAATATGTAATTATATATGTTATAATTATAAATATATATAATATAAATAT ACAATACATTTTATATAATATATAATATATAGTATAATACAAAATATACA TTATAATATATTATAATATATAATATATAATACATATATTATATAAAAAT ACTATAATATATAATAATATATATTATAATATATATAATATATAATAATA TATTATAATATATATTATAATATAGTATAATATATATATTATAATTTATA CTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03139.hp1 HG03453.hp2 others(1): Show HG00642.hp1 HG03139.hp1 HG03453.hp2 HG06807.hp2	a0076 a0077 a0081 others(1): Show a0076 a0077 a0081 a0082	a0076c0085 a0077c0086 a0081c0084 others(1): Show a0076c0085 a0077c0086 a0081c0084 a0082c0083	a0076c0085t0001 a0077c0086t0002 a0081c0084t0001 others(1): Show a0076c0085t0001 a0077c0086t0002 a0081c0084t0001 a0082c0083t0001	a0076c0085t0001g0052 a0077c0086t0002g0074 a0081c0084t0001g0044 others(1): Show a0076c0085t0001g0052 a0077c0086t0002g0074 a0081c0084t0001g0044 a0082c0083t0001g0043	4	152	0.0263	402	c.299 others(423): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTT TTACATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATATAT AATTATATATAATTTATATACTTATAAATATGTAATTATATATGTTATAA TTATAAATATATATAATATAAATATACAATACATTTTATATAATATATAA TATATAGTATAATACAAAATATACATTATAATATATTATAATATATAATA TATAATACATATATTATATAAAAATACTATAATATATAATAATATATATT ATAATATATATAATATATAATAATATATTATAATATATATTATAATATAG TATAATATATATATTATAATTTATACTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(395): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAT CAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	362	0.0028	402	c.391 others(417): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(395): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATATATATTCATATATATA TTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	191	0.0052	402	c.343 others(419): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATCTATATATGAATATATATGAATCTATATATGA ATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735548	A A	AAAAAAAA others(395): Show AAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTT GGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATG ATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAA AATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCA AGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAG CCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCAT CTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	2	390	0.0051	402	c.112 others(419): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237544278	G G	GAGTGGGG others(395): Show GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GCA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	286	0.0035	402	c.153 others(421): Show c.1539+1625_1539+1626insGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGGACAGTGGCAAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499927	T T	TGGTGGTG others(395): Show TGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGT GATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGG AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	250	0.0040	402	c.748 others(419): Show c.748+1578_748+1579insGTGGTGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTA GTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGT GATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735548	A A	AAAAAAAA others(395): Show AAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTT GGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATG ATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAA AATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCA AGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAG CCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCAT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	364	0.0055	402	c.18 others(413): Show c.1849_*1850insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1754		chr1	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(395): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	402	c.58 others(413): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(395): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	362	0.0028	402	c.-75 others(421): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATACA TACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGC TGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(395): Show GGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0151 a0001c0007t0005g0151	1	324	0.0031	402	c.140 others(419): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGATCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(395): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	326	0.0031	402	c.433 others(419): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGGAGGGG AGGGGAAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAG GGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATATAA others(395): Show CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0033 a0001c0010t0022 a0001c0010t0033	a0001c0010t0022g0260 a0001c0010t0033g0261 a0001c0010t0022g0260 a0001c0010t0033g0261	2	378	0.0053	402	c.489 others(419): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(395): Show CGGGGTTTCTCCAATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTG ATCCGCCTGCCTCGGCCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCA CCGTGCCCGGCTAATTTTGTATTTTAGTAGAGATGGGGGTTTCTCCATGT TGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCC TCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTTCTCCATGTTGGCCAGGCTGGTCT CGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAG ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0139 a0004c0009t0002g0139	1	324	0.0031	402	c.-48 others(413): Show c.-4847_-4846insCATCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAGAAACC CCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCT GTAATCCCAGCACTTTGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCATCTCTACTAAAATA CAAAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGG AGGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGC CAACATTGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(395): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATACACATATATATGTGTGCATATATACATATATGTGTGCATATATAT ACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0090 a0001c0002t0006g0090	1	156	0.0064	402	c.196 others(423): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATACACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(395): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATACACATATATATGTGTGCATATATACATATATGTGTGCATATATAT ACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0004 a0005c0026t0004	a0005c0026t0004g0015 a0005c0026t0004g0015	1	156	0.0064	402	c.196 others(423): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATACACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(395): Show GTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCA TCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0187 a0001c0002t0005g0187	1	336	0.0030	402	c.269 others(421): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTG ACGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318063	T T	TGCACCTC others(395): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGC ACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCC CTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCT CCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0286 a0002c0003t0001g0286	1	360	0.0028	402	c.35 others(413): Show c.3548_*3549insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCA CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCC ACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACC TCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCC CAGCCTCCACCTCCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3090		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(395): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	358	0.0028	402	c.143 others(417): Show c.143-267_143-266insCTGGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976811	C C	CAACCCCG others(395): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCGGGAACCGCCTCCCACTCCCCCCCGCAACC CCGGGAAACCGCCTCCCACTCCCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCACCAACCCCGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCACCCGGGAACCGC CTCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	408	0.0025	402	c.215 others(419): Show c.2150-188_2150-187insCGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGCGGGGAGGCGGTTCCCGGGTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCGGGGTTGGTGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGC GGGGGAGTGGGAGGCGGTTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGG TTCCCGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGG GAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGAAGAGGGAGGGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGGAGGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG GAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAAGAGGGGAAGGGGAGTGG GGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGAGAGGAGGGAAGGGGGAAGAGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	312	0.0032	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGAAGAGGGAGGGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAGGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAAGA GGGGAAGGGGAGTGGGGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGAGAGGAGGGAAGGGGGA AGAGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	312	0.0032	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAG GGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	312	0.0032	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PINX1_chr8_10759961_10844875	10805657	T T	TGGGTGAC others(395): Show TGGGTGACGGAGCACAGGAAGGGGCCACACTAGCGCTGAGTGGGTGACGG AGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGGCAGAGCACAGGAA GAAGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACAC TAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAG GGAGGAGGCAGAGCACAGGAAGAAGCCACACTAGTGCTGAGTGGGTGACG GAGCACAGGAAGGGGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGTCACACTAGTGCTG AGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	352	0.0028	402	c.471 others(421): Show c.471+14535_471+14536insCCTCAGCACTAGTGTGACCCCTTCCT GTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTC ACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGCCTCCTCCCTCA GCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAGCACTAGTGT GGCTTCTTCCTGTGCTCTGCCTCCTCCCTCAGCACTAGTGTGGCCCCTTC CTGTGCTCCGTCACCCACTCAGCGCTAGTGTGGCCCCTTCCTGTGCTCCG TCACCCCCTCAGCACTAGTGTGGCTTCTTCCTGTGCTCTGCCACCCCCTC AGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAGCGCTAGTG TGGCCCCTTCCTGTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10805857	T T	TGGGTGAC others(395): Show TGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGAGGAGGCA GAGCACAGGAAGAAGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGGA AGGGGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGGGGGTGACGGAGCACAGGAAGGGGTCACACTAGTGCTGAGGGGGTGAC GGAGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	352	0.0028	402	c.471 others(421): Show c.471+14335_471+14336insCCTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCCACTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTC ACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAG CACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCCCTCAGCACTAGTGTG ACCCCTTCCTGTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGCC TCCTCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCA GCACTAGTGTGGCTTCTTCCTGTGCTCTGCCTCCTCCCTCAGCACTAGTG TGGCCCCTTCCTGTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3649553	A A	ACCCGGCA others(395): Show ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0282 a0001c0002t0003g0282	1	332	0.0030	402	c.112 others(419): Show c.1128-846_1128-845insGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAG GGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0107 a0001c0006t0012g0107	1	218	0.0046	402	c.262 others(417): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCCTCCCCTCCCTTCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCT TCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(395): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	216	0.0046	402	c.173 others(419): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(395): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAG GCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGAGGAGGGGAG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGG GGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGA AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0039 a0001c0001t0067g0039	1	176	0.0057	402	c.-86 others(411): Show c.-862_-861insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGG GGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTG CAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		536		chrX	TogoVar
PLCXD1_chrX_276381_308356	280975	G G	GGAAGGGA others(395): Show GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAG ACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGG GGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGG GGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGG GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0087 a0001c0001t0086 a0001c0001t0087	a0001c0001t0086g0061 a0001c0001t0087g0060 a0001c0001t0086g0061 a0001c0001t0087g0060	2	176	0.0114	402	c.-73 others(411): Show c.-731_-730insGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGG GGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGG GGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGG GGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTG CAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGCA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		405		chrX	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	64	0.0156	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCT TGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTGTTGCCAGGCTTGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0050 a0001c0006t0007g0050	1	64	0.0156	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGC TTGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	64	0.0156	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	64	0.0156	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03041.hp2 HG01346.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	386	0.0052	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	386	0.0026	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCTTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	386	0.0052	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAAGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar

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