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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(413): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATA TATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATAAA TGAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTATA TATTATATATTATTATATTATATATATTATAATATGTATTATATTATATA TTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	389	0.0026	420	c.-51 others(431): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATAGATTTTATATTTAAAAATATATTTTATATATTT TATACATAAAATATATATAAAATATATAAATCATATAAAATTTATATTTT ATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATA TATTATTATGTTATATATTATATATTATTATATTATATATATTATAATAT GTATTATATTATATATTATATAATATAAAATATAAA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					3992		chr8	TogoVar
KCNG2_chr18_79792938_79905100	79807787	G G	GCTGACCA others(413): Show GCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCC TGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTA TGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACAC ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18942.hp1 NA18980.hp1 others(3): Show HG02738.hp1 NA18942.hp1 NA18980.hp1 NA19009.hp1 NA19065.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0132 a0002c0002t0001g0114 a0002c0002t0002g0113	6	312	0.0192	420	c.-11 others(439): Show c.-115+9792_-115+9793insCGGGCCCAGAGTCCGCGCTCTGAGGA GCTGCCGGGGCCGCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTC GCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCC CAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCAC GTTATGGGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTGAC CACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGG ACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGA GCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGC GCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79807847	G G	GCTGACCA others(413): Show GCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGA GTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTC GCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	420	c.-11 others(439): Show c.-115+9852_-115+9853insCGGTCCCAGAGTCCTCGCCCTGAGGA GCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGC GCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCC CAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCAC GTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGAC CACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGG CCTCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGA GCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGC GCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808485	T T	TCTGAGAA others(413): Show TCTGAGAAGCTGCCAGGGACACACTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCTCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TACGGTCCCAGAGTCCTCGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	2	312	0.0064	420	c.-11 others(441): Show c.-115+10476_-115+10477insAAGCTGCCAGGGACACACTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGT TACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809347	A A	ACTGACCA others(413): Show ACTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTG CCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGTCCCAGA GTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGC GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCC TGAGGAGCTGCCGGGGCCGCG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0201 a0003c0006t0001g0201	1	312	0.0032	420	c.-11 others(441): Show c.-115+11352_-115+11353insCGGTCCCAGAGTCCTCGCCCTGAG GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGT CCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTG ACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGG GGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGTCCCAGAGTCC TCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNQ2_chr20_63395208_63477655	63442830	T T	TCACCACC others(413): Show TCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCAC CATCACCATCATCACCACCACCATCACCACCATCACCATCACCACCATCA CCATCACCACCATCACCATCACCACCACCACCATCACCATCACCATTACC ACCACCATTACCACCACCATCACCATCACCACCATCACCATCACCACCAC CACCACCACCACCATCACCATCACCACCACCATCACCATCATCACCACCA CCATCACCACCATCACCATCACCACCATCACCATCACCACCATCACCATC ACCACCACCACCATCACCATCACCATTACCACCACCATTACCACCACCAT CACCATCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0048 a0001c0008t0007g0048	1	330	0.0030	420	c.691 others(435): Show c.691-300_691-299insGTGGTGGTGATGGTGATGGTGATGGTGGTG GTAATGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGATGGTGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGT GATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGG TGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGT GATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KIF25_chr6_167992671_168050091	167997463	T T	TCGGGGGA others(413): Show TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAGTCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGTCGGGGGAGTCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATGTGCAGAGATGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0277 a0001c0001t0008g0277	1	375	0.0027	420	c.-20 others(431): Show c.-2006_-2005insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAGTCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAGTCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAG AGATGGGGGGTCGGGGGAATGTGCAGAGATGGGGGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					207		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035467	G G	GGGGCGGG others(413): Show GGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGG CGGGAACGGCGCTGCGGGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	375	0.0027	420	c.317 others(437): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGAGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK6_chr19_50953631_50974591	50959670	G G	GAGAGAGA others(413): Show GAGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGA GGAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGGGGA GGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGA GGAGGAAGAGGAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	316	0.0032	420	c.583 others(435): Show c.583-355_583-354insTCCTCCTTCTCCTCTTCCTCCTCCTCTTCC TCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCCTCC TCCCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCTCCCCC TCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCC ACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCC TCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCC TCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTCT		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(413): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGAG GAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(70): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18948.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0004g0210 a0002c0003t0001g0240 a0003c0004t0001g0101 a0003c0004t0001g0161 a0003c0004t0001g0187 a0004c0005t0001g0096	73	316	0.2310	420	c.583 others(435): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTC CACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCC CTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTC CTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
LDLRAD4_chr18_13213760_13657751	13262399	T T	TCTGTGCG others(413): Show TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGT CCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTG GGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGC CCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGT CCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTG GAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC CCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGT CCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTG GAAACTGAGTCCCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02922.hp2 others(5): Show HG02055.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0033 a0001c0001t0067 a0001c0001t0069	a0001c0001t0005g0128 a0001c0001t0007g0073 a0001c0001t0012g0079 others(5): Show a0001c0001t0005g0128 a0001c0001t0007g0073 a0001c0001t0012g0079 a0001c0001t0016g0070 a0001c0001t0022g0004 a0001c0001t0033g0082 a0001c0001t0067g0173 a0001c0001t0069g0172	8	178	0.0449	420	c.-46 others(441): Show c.-466-15677_-466-15676insTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGG CTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCCCTG TGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAA CTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTG TGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAA CTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262399	T T	TCTGTGCG others(413): Show TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGT CCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTG GGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGC CCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGT CCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTG GAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC CCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGT CCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTG GAAACTGAGTCCCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03927.hp2 HG00140.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0060 a0001c0001t0003 a0001c0001t0060	a0001c0001t0003g0018 a0001c0001t0060g0021 a0001c0001t0003g0018 a0001c0001t0060g0021	2	178	0.0112	420	c.-46 others(441): Show c.-466-15677_-466-15676insTCTGTGCGTGGGGGCTGAGTCCCG TGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGG CTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCCCTG TGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAA CTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTG TGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAA CTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LHFPL3_chr7_104323603_104913561	104824288	A A	ATATTATA others(413): Show ATATTATATATATTATATATTATATAATATATTATATATAATATATTATA TATTATATATTATAATTATATAATATATTATATATTATATATATATATAT ATATATTATATATTAATATATATAATATAATTATATATATATATTATTAT ATTATATATATTATATATATTATATATATATAATATATATAATTGTATAT ATAATATATAATATATAATATATATAATATATAGATATAATATATAATAT ATAATATATATAATATTATTATATATATAATATATATATATAATATATAT AATATATAATTATATATATAATATATAATATATATTATATTATATATATA TATTATATAATATATTATATATATAATATATATTATATATTATATACAAT ATATTATATATTATATACATT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	86	0.0116	420	c.683 others(439): Show c.683-81899_683-81898insTATTATATATATTATATATTATATAA TATATTATATATAATATATTATATATTATATATTATAATTATATAATATA TTATATATTATATATATATATATATATATTATATATTAATATATATAATA TAATTATATATATATATTATTATATTATATATATTATATATATTATATAT ATATAATATATATAATTGTATATATAATATATAATATATAATATATATAA TATATAGATATAATATATAATATATAATATATATAATATTATTATATATA TAATATATATATATAATATATATAATATATAATTATATATATAATATATA ATATATATTATATTATATATATATATTATATAATATATTATATATATAAT ATATATTATATATTATATACAATATATTATATATTATATACATT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2						chr7	TogoVar
LHPP_chr10_124456823_124619141	124610461	A A	AGGGTGCT others(413): Show AGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGTG GGTGCTGATGGAGTGGGTGTGGGTGAGGGTGCTGATGGAGTGGGTGAGGG TGAGGGTGCTGGTGGAGCAGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAG CAGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGCAGGTGAGGGT GAGGGTGCTGATGGAGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGC TGATGGAGCGGGTGAGGGTGCGAGTGAGGGTGCTGATGGAGCGGGTGAGG GTGCGAGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCTGATGGAGCGGGT GAGAGTGTGGGTGTTAATGAAGCGGGTGCGGGTGAGGGTGCTGATGGAGC GGGTGAGGGTGCTGATGGAGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0096 a0001c0001t0014g0096	1	260	0.0039	420	c.717 others(437): Show c.717-2798_717-2797insCTGATGGAGCGGGTGCGGGTGAGGGTGC TGATGGAGCGGGTGTGGGTGCTGATGGAGTGGGTGTGGGTGAGGGTGCTG ATGGAGTGGGTGAGGGTGAGGGTGCTGGTGGAGCAGGTGAGGGTGCGGGT GAGGGTGCTGGTGGAGCAGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGC GGGTGCAGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGAGTGAGGGTGCT GATGGAGCGGGTGAGGGTGCGAGTGAGGGTGCTGATGGAGCGGGTGAGGG TGCTGATGGAGCGGGTGAGAGTGTGGGTGTTAATGAAGCGGGTGCGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGCTGATGGAGCGGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(413): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	294	0.0034	420	c.153 others(439): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(413): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	294	0.0034	420	c.153 others(439): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(413): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0220 a0001c0013t0001g0220	1	294	0.0034	420	c.153 others(439): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0248 a0001c0005t0001g0248	1	294	0.0034	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	294	0.0034	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(413): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	294	0.0034	420	c.153 others(439): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCC GAGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857775	G G	GAGTGGTG others(413): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	294	0.0034	420	c.153 others(439): Show c.1530-3070_1530-3069insGCACACCCGTCCCGTGACACCACGCA CACCCGTCCCGAGACACCACGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACA CCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(413): Show TCTACTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTC CTCTTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATC TGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCC ATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTC CCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCT TCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCATCTCCCTCTACTCCCCC TTCTCCCCCTTCTCCCCCTTCTCCCCCATCTCCCCCTACTCCCCCTTCTC CCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCTTCT CCCCTTCTCCCCCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	450	0.0022	420	c.12 others(431): Show c.1205_*1206insCTACTCCCCCATCTCCCCCTTCTCCCCCTACTCC CCTTCTCCCCTTCTCCTCTTCTCCCCCTTCTCCCCCTACTCCCCTTCTCC CCCTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTAC TCCCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCC CTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCT CCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCATC TCCCTCTACTCCCCCTTCTCCCCCTTCTCCCCCTTCTCCCCCATCTCCCC CTACTCCCCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCCCCC		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					265		chr9	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGACACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGCAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG03098.hp2 others(4): Show HG02258.hp1 HG02486.hp2 HG03098.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0032 a0001c0007 a0001c0032	a0001c0007t0006 a0001c0007t0011 a0001c0007t0017 others(1): Show a0001c0007t0006 a0001c0007t0011 a0001c0007t0017 a0001c0032t0006	a0001c0007t0006g0130 a0001c0007t0006g0175 a0001c0007t0006g0178 others(4): Show a0001c0007t0006g0130 a0001c0007t0006g0175 a0001c0007t0006g0178 a0001c0007t0011g0092 a0001c0007t0011g0093 a0001c0007t0017g0236 a0001c0032t0006g0051	7	276	0.0254	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGACACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGATACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGCAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02258.hp2 HG03041.hp1 HG01517.hp2 HG02258.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0004 a0001c0002t0001 a0001c0006t0004	a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0006t0004g0202 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0006t0004g0202	3	276	0.0109	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(413): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACAATAC ATACACCACATAGCACACACACTGCAGCACACACGAGATACACACCACAC CATACAACACACCACACACACCACACAGGACATGTACACCACACACACAA CCAACACACATCACATGCACACACACATACACACACCACACATACTATAC CACATACACATGCAGTACACACACCACACCACACACACACCACATACACA GATACCACACACACTGCAGCACACACAAGACACACACCACACCATGTAAC ACACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(136): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(7): Show a0001 a0003 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0017	a0001c0001 a0001c0003 a0001c0005 others(29): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0023 a0001c0025 a0001c0028 a0001c0029 a0001c0033 a0001c0043 a0001c0045 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0054 a0001c0056 a0001c0064 a0001c0065 a0001c0068 a0003c0015 a0007c0061 a0008c0053 a0009c0047 a0011c0051 a0013c0046 a0014c0063 a0015c0044 a0017c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0005t0001 a0001c0005t0007 a0001c0006t0004 a0001c0009t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0010 a0001c0011t0002 a0001c0023t0001 a0001c0023t0013 a0001c0025t0002 a0001c0028t0003 a0001c0029t0001 a0001c0033t0004 a0001c0043t0001 a0001c0045t0002 a0001c0048t0002 a0001c0049t0003 a0001c0050t0002 a0001c0052t0004 a0001c0054t0002 a0001c0056t0001 a0001c0064t0001 a0001c0065t0001 a0001c0068t0002 a0003c0015t0004 a0007c0061t0001 a0008c0053t0018 a0009c0047t0010 a0011c0051t0002 a0013c0046t0001 a0014c0063t0001 a0015c0044t0002 a0017c0066t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 others(132): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0121 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0250 a0001c0001t0002g0258 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0176 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0201 a0001c0001t0003g0215 a0001c0001t0003g0257 a0001c0001t0004g0045 a0001c0001t0005g0171 a0001c0001t0005g0197 a0001c0001t0014g0232 a0001c0001t0015g0140 a0001c0003t0001g0044 a0001c0003t0001g0064 a0001c0003t0001g0073 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0158 a0001c0003t0001g0166 a0001c0003t0001g0187 a0001c0003t0001g0251 a0001c0003t0001g0259 a0001c0003t0004g0233 a0001c0003t0005g0147 a0001c0003t0005g0182 a0001c0003t0008g0205 a0001c0003t0016g0060 a0001c0005t0001g0005 a0001c0005t0001g0207 a0001c0005t0001g0210 a0001c0005t0001g0213 a0001c0005t0001g0268 a0001c0005t0007g0214 a0001c0006t0004g0009 a0001c0006t0004g0086 a0001c0006t0004g0095 a0001c0006t0004g0096 a0001c0006t0004g0122 a0001c0009t0001g0062 a0001c0009t0001g0136 a0001c0009t0001g0137 a0001c0009t0001g0154 a0001c0009t0001g0180 a0001c0010t0002g0002 a0001c0010t0002g0050 a0001c0010t0003g0241 a0001c0010t0010g0195 a0001c0011t0002g0024 a0001c0011t0002g0025 a0001c0011t0002g0027 a0001c0011t0002g0028 a0001c0023t0001g0087 a0001c0023t0013g0110 a0001c0025t0002g0041 a0001c0025t0002g0042 a0001c0028t0003g0038 a0001c0028t0003g0039 a0001c0029t0001g0035 a0001c0029t0001g0036 a0001c0033t0004g0088 a0001c0043t0001g0022 a0001c0045t0002g0204 a0001c0048t0002g0075 a0001c0049t0003g0249 a0001c0050t0002g0142 a0001c0052t0004g0247 a0001c0054t0002g0055 a0001c0056t0001g0112 a0001c0064t0001g0220 a0001c0065t0001g0181 a0001c0068t0002g0056 a0003c0015t0004g0029 a0003c0015t0004g0090 a0003c0015t0004g0103 a0007c0061t0001g0084 a0008c0053t0018g0113 a0009c0047t0010g0083 a0011c0051t0002g0134 a0013c0046t0001g0049 a0014c0063t0001g0101 a0015c0044t0002g0161 a0017c0066t0002g0078	139	276	0.5036	420	c.742 others(437): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGTAACACACCACACACACACCACGCAACAC		LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0001 a0001c0001t0045g0001	1	414	0.0024	420	c.-43 others(431): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA20805.hp2 NA19055.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0002g0001 a0001c0001t0004g0001	2	414	0.0048	420	c.-43 others(431): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0001 a0001c0001t0087g0001	1	414	0.0024	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(107): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02293.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp1 NA18955.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18997.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0001t0047 a0001c0001t0059 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0082 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0007g0002 a0001c0001t0013g0002 a0001c0001t0013g0006 a0001c0001t0013g0010 a0001c0001t0020g0002 a0001c0001t0023g0002 a0001c0001t0035g0008 a0001c0001t0036g0002 a0001c0001t0047g0002 a0001c0001t0059g0002 a0001c0001t0074g0002 a0001c0001t0076g0002 a0001c0001t0077g0002 a0001c0001t0082g0002 a0001c0005t0001g0002 a0001c0006t0001g0002	110	414	0.2657	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG03209.hp2 HG02258.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086	a0001c0001t0083g0001 a0001c0001t0084g0001 a0001c0001t0086g0001 a0001c0001t0083g0001 a0001c0001t0084g0001 a0001c0001t0086g0001	3	414	0.0073	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	414	0.0024	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0002 a0001c0001t0075g0002	1	414	0.0024	420	c.-43 others(431): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(413): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0012 a0001c0001t0049g0012	1	414	0.0024	420	c.-43 others(431): Show c.-4349_-4348insAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4187		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(413): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	420	c.-43 others(430): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4158		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(413): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAATATATAATTATATATTATATATAATTATATATTA TATAATAACATATAATTATATATAATATATAAATATATAATATATAAATA TATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp1 HG01256.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0129 a0001c0001t0001g0130	2	316	0.0063	420	c.622 others(435): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAATATATAATTATATATTATATATAATTATATATTAT ATAATAACATATAATTATATATAATATATAAATATATAATATATAAATAT ATAATATATAAATATATATAATATATAATTATATATAATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(413): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	290	0.0035	420	c.129 others(437): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46184616	A A	ACCAACCC others(413): Show ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCCAC CACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCACCACCACCAACCCAG TGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCA ACCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGGCACTCAGGAC CACCCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC TCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGACGGGCACCCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	358	0.0028	420	c.64 others(431): Show c.6487_*6488insGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTG TGGCCGGCCCACTGGGTTGGTGGTGGTGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGGTGGTCCTGAGTGCCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGGTTGGTGGTGGTCCT GAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGT GGTGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding					3829		chr21	TogoVar
LUC7L_chr16_183990_234449	186527	G G	GAGGAACA others(413): Show GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	350	0.0029	420	c.26 others(431): Show c.2670_*2671insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2462		chr16	TogoVar
MAGEC1_chrX_141898894_141914374	141906035	T T	TTGAGTAT others(413): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGG TTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTC CTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCC TTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTTCTCCTCCACTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp1 HG03041.hp1 HG02109.hp1 HG03041.hp1	a0049 a0049	a0049c0044 a0049c0044	a0049c0044t0002 a0049c0044t0002	a0049c0044t0002g0002 a0049c0044t0002g0002	2	359	0.0056	420	c.661 others(427): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(433): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerProLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906070	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGT GAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0174 a0174	a0174c0082 a0174c0082	a0174c0082t0001 a0174c0082t0001	a0174c0082t0001g0002 a0174c0082t0001g0002	1	359	0.0028	420	c.684 others(427): Show c.684_685insCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCC TCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGA GCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAG AGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe228_Ala229insProGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProVal SerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSer ProGluArgThrHisSerThrPheGluGlyPheProGlnSerLeuLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(413): Show GAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA AGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGT GAGCGCCGCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATT CCTGTGAGCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTC CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCC AGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAG AGTTCTCCTGAGAGTGCTCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp1 HG03486.hp1	a0076 a0076	a0076c0104 a0076c0104	a0076c0104t0003 a0076c0104t0003	a0076c0104t0003g0005 a0076c0104t0003g0005	1	359	0.0028	420	c.789 others(427): Show c.789_790insCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTT CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCGCC GCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAAC TCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGA GCCGCTCCTTCTCCTCCACTTTACTGAGTATTTTCCAGAGTTCCCCTGAG AGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCC TATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTC CTGAGAGTGCTCAAAGTACTTTTGAGGGTTTT	p.Phe others(433): Show p.Phe263_Ala264insProGlnSerProLeuGlnIleProValSerAr gSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgS erGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProVal SerAlaAlaSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGl uArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleP roValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSer ProGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGl nIleProMetThrSerSerPheSerSerThrLeuLeuSerIlePheGlnS erSerProGluSerAlaGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1076/4256	790/3429	264/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(413): Show TATATATATTCATATATAGATTCATATATATATATTCATATATAGATTCA TATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATAGATTCATATATAGATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0155 a0001c0001t0024g0155	1	191	0.0052	420	c.343 others(437): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATCTATATATGAATCTATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAATATATATATGAATCT ATATATGAATATATATATATGAATCTATATATGAATATATAT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
MBP_chr18_76973833_77137783	76978672	A A	ATCGACCC others(413): Show ATCGACCCTCTGATGAGGATGCCCCCTCCAACAGGCACCGCCAGGCAGCC CTGCCTCGAGACCCAGAGGCACCGAGTCACATTTGCTCTGCACACCTGGC TCTCGCTTGATGTGGGCCTGTGTGCTACAGCCCGGAACACAAAAGAAGAC ACCCATGCAAATACCATTAAAAGTTTATTGTTTTATTTCAATATTCAGGA ACAGTGTACACTTTCCGTTCAGCCATCGTCACAGCACGTGCTGTGTGGGT GCGGCCACGTATGGATCGCAGAGCCGACCTCAGCTCAGCGACGCAGAGTG CTTCTGCTGAAAAATTTGGAGGTTTGTGTCTGGAGTTTTGTTCTTTGTAA CCCTCTCATCATCGAGGCTATATATTAATAGACATGGTATTAAGCCCACA CGAAACATTCAGAATTAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0384 a0001c0001t0008g0384	1	396	0.0025	420	c.17 others(431): Show c.1754_*1755insATTCTAATTCTGAATGTTTCGTGTGGGCTTAATA CCATGTCTATTAATATATAGCCTCGATGATGAGAGGGTTACAAAGAACAA AACTCCAGACACAAACCTCCAAATTTTTCAGCAGAAGCACTCTGCGTCGC TGAGCTGAGGTCGGCTCTGCGATCCATACGTGGCCGCACCCACACAGCAC GTGCTGTGACGATGGCTGAACGGAAAGTGTACACTGTTCCTGAATATTGA AATAAAACAATAAACTTTTAATGGTATTTGCATGGGTGTCTTCTTTTGTG TTCCGGGCTGTAGCACACAGGCCCACATCAAGCGAGAGCCAGGTGTGCAG AGCAAATGTGACTCGGTGCCTCTGGGTCTCGAGGCAGGGCTGCCTGGCGG TGCCTGTTGGAGGGGGCATCCTCATCAGAGGGTCGA		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding					160		chr18	TogoVar
MELTF_chr3_196996740_197034817	197030146	G G	GCACAGCT others(413): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCACCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGC CGGGCAGGGGCACCTCGGCCACGGCTGCACAGAGGATCTGGGATACAGGG GAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTC GGCCACAGCTGCACAGAGGATCTGGGATACAGGGGAGCCCAGGCCGAGCG CCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAG AGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGA GCCGGGCAGGGGCATCTCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0007 a0005c0017t0007	a0005c0017t0007g0063 a0005c0017t0007g0063	1	420	0.0024	420	c.-44 others(429): Show c.-445_-444insGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGG GCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGC CGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCT CCCCTGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCC GGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCTGTATCCCAGAT CCTCTGTGCAGCCGTGGCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCA GGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTG GCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGG CTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTG		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					330		chr3	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 NA18944.hp1 HG02622.hp2 HG03225.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0127 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0127	3	390	0.0077	420	c.112 others(437): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01257.hp1 others(10): Show HG00642.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01943.hp1 HG02004.hp2 HG02165.hp2 HG02258.hp2 HG03540.hp1 HG04204.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0003	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0098 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0003g0049 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0004g0225 a0001c0005t0003g0221	13	390	0.0333	420	c.112 others(437): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(413): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18965.hp2 NA19011.hp1 others(1): Show HG01516.hp1 NA18965.hp2 NA19011.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0056 a0001c0001t0002g0160 a0001c0001t0002g0161	4	390	0.0103	420	c.112 others(437): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(413): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	390	0.0026	420	c.112 others(437): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAATATATATATATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(413): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGT CGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	420	c.26 others(431): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGG GGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(413): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	400	0.0025	420	c.26 others(431): Show c.2636_*2637insGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGAGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar

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