Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMYD3_chr1_245744347_246512279	246325070	G G	GGGGGGGC others(420): Show GGGGGGGCAGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAA GGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	150	0.0067	427	c.531 others(444): Show c.531+2130_531+2131insGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(420): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGTCCCCAATCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	190	0.0053	427	c.72+ others(444): Show c.72+14097_72+14098insGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965285	A A	ACCCCAAT others(420): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0163 a0006c0009t0001g0163	1	190	0.0053	427	c.72+ others(444): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(420): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG GAAGCGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	251	0.0040	427	c.34 others(436): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCC ATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCCGCTTCCCCCCTCC CCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTT CCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCC CCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCC CCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(420): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGGAACGGGGGAGGGGGAAGCGGGGAACGGG GGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGG GGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAAGGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAA GGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0110 a0001c0001t0030g0110	1	251	0.0040	427	c.34 others(436): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCC CTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCC CCGCTTCCCCCTCCCCCGTTCCCCGCTTCCCCCTCCCCCTTCCCCCTCCC CCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCC CCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(420): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGTGGGAGGGGGAG GGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGGAACG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0132 a0001c0001t0033g0132	1	251	0.0040	427	c.34 others(436): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCC CCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(420): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGA GGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGA AGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	251	0.0040	427	c.34 others(436): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC ACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(420): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGAAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGAG GGGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGA GGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	260	0.0039	427	c.138 others(446): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTC CCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTTCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCC C	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(420): Show TATATTTATATAAAAATATATAAAAATATATATTTATATAAAAATATGTA TAAATATATATTTATATAAAAATATGTATAAATATATATTTATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	144	0.0069	427	c.190 others(446): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATA TATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATA TAAATATATATAAATATATATTTATACATATTTTTATATAAATATATATT TATACATATTTTTATATAAATATATATTTTTATATATTTTTATATAAATA T	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(420): Show TATATTTATATAAAAATATATAAAAATATATATTTATATAAATATATATA AAAATATATATTTATATAAAAATATATAAAAATATATATTTATATAAAAA TATGTATAAATATATATTTATATAAAAATATGTATAAATATATATTTATA TATAAATATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	144	0.0069	427	c.190 others(446): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATATTTA TATATAAATATATATTTATACATATTTTTATATAAATATATATTTATACA TATTTTTATATAAATATATATTTTTATATATTTTTATATAAATATATATT TTTATATATATTTATATAAATATATATTTTTATATATTTTTATATAAATA T	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(420): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0126 a0001c0004t0126	a0001c0004t0126g0076 a0001c0004t0126g0076	1	276	0.0036	427	c.-18 others(446): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCT CTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCT CCCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCC CTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(420): Show AGAGGGAGGGGGGGGAGGGGAGAGAGAGGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0169 a0001c0001t0015g0169	1	276	0.0036	427	c.-18 others(446): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCC CCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCC TCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCTCCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(420): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGAGGG GGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGAGGGGGAGGGAGGGGGG GAGAGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0082 a0001c0004t0007g0082	1	276	0.0036	427	c.-18 others(446): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCCTCCCTCCCCCTCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTC CCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCT CCCCCTCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTC CCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCC TCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(420): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0053 a0001c0003t0098g0053	1	276	0.0036	427	c.-18 others(446): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCC TCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(420): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGG GGGGAGAGAGGGGGAGGGAGGGGGGGAGAGGGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0089 a0001c0003t0089	a0001c0003t0089g0074 a0001c0003t0089g0074	1	276	0.0036	427	c.-18 others(446): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCCTCCCTCCCCCTCTCTCC CCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCCT CCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCC TCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCT C	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	47128213	C C	CCTCCCCT others(420): Show CCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCA CCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACC CATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCACCCCACCCA TCCCCCCTTCCCTCACCCATCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	112	0.0089	427	c.142 others(448): Show c.1425+16611_1425+16612insTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCC ACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCAC CCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCC CTC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(420): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC TCCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTC CCCCTCCTCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTC CTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	268	0.0037	427	c.186 others(444): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCCAC others(420): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	370	0.0027	427	c.-15 others(438): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACACAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
TRAF7_chr16_2150782_2183129	2164202	G G	GCCTGGTT others(420): Show GCCTGGTTGCATGGTTAAGCGTGTGAGTGCTGCGTGGCGCGGCCTGGTCG CATGGTTAAGCGTGTGAGTGCTGCGTGACCTGGCCTGGTCGCATGGTAAA GCGTGTTAGTGCTGCGTGGCGCGGCCTGGTTGCATGGTTAAGCGTGTTAG TGCTGCGTGGTGCGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTG GCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGTGCTGCGTGGCCTGGCCT GGTCGCATGGTTAAGCGTGTGAGTGCTACGTGGCCTGGCCTGGTCGCATG GTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCAT GTTAGTGCTACGTGGCGCGGCCTGGTCGCATGGTTAAGCGTGTTAGTGCT GCGTGGCGCGGCCTGGTCGCATGGTTAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	320	0.0031	427	c.81+ others(440): Show c.81+201_81+202insCCTGGTTGCATGGTTAAGCGTGTGAGTGCTGC GTGGCGCGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGACCTGG CCTGGTCGCATGGTAAAGCGTGTTAGTGCTGCGTGGCGCGGCCTGGTTGC ATGGTTAAGCGTGTTAGTGCTGCGTGGTGCGGCCTGGTCGCATGGTTAAG CGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGT GCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTACGTGG CCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCTG GTCGCATGGTTAAGCATGTTAGTGCTACGTGGCGCGGCCTGGTCGCATGG TTAAGCGTGTTAGTGCTGCGTGGCGCGGCCTGGTCGCATGGTTAA	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20			chr16	TogoVar
TRIM28_chr19_58539064_58555715	58540921	G G	GACCCTGC others(420): Show GACCCTGCTTCCCTCCTCAGACAGGATTCTCACCCCACACACCCTGCTTC CCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATGCTCCC CACACACACCCTGCTTCCTTCCTCAGACAGGATTCTCCCCCCACACACCC TGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCC TCAGACAGGAAGCTCCCCCCACACACCCTGCTTCCCTCCTCATACAGGAT TCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACCCTGCTTCC CTCCTCAGACAGGATTCTCCCCCCACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02451.hp2 others(20): Show HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 NA18906.hp1 NA18984.hp1 NA18989.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041	23	402	0.0572	427	c.-38 others(438): Show c.-3837_-3836insACCCTGCTTCCCTCCTCAGACAGGATTCTCACCC CACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATGCTCCCCACACACACCCTGCTTCCTTCCTCAGACAGGATTC TCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACAC ACCCTGCTTCCCTCCTCAGACAGGAAGCTCCCCCCACACACCCTGCTTCC CTCCTCATACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC CCACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		3142		chr19	TogoVar
TRMO_chr9_97899489_97927500	97913251	T T	TAATCATT others(420): Show TAATCATTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTAGGTTTTTAAT GTAATTTATTTCTGTTCAGAAGGGTACATTTTCTATTGCCGATGAACTCT ATTTGGCTGACAGCAAAAATTAGATACTGAAATAGAGTAATTTTGCAACC ACATCCTTTAGCAGTTTTCATGCCTCCTCATTTTTGCTGCCAACTTATTA AAATAATCATCTAAACTATACAAGTTTTTTACATTTTCTCTTCACCTACA CACATTCTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATACTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0050 a0002c0002t0002g0053	2	374	0.0054	427	c.409 others(442): Show c.409+149_409+150insGGGGGGAGGGATAGTATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAGAAAGAAAGAAAAAAAAAGAATGTGTG TAGGTGAAGAGAAAATGTAAAAAACTTGTATAGTTTAGATGATTATTTTA ATAAGTTGGCAGCAAAAATGAGGAGGCATGAAAACTGCTAAAGGATGTGG TTGCAAAATTACTCTATTTCAGTATCTAATTTTTGCTGTCAGCCAAATAG AGTTCATCGGCAATAGAAAATGTACCCTTCTGAACAGAAATAAATTACAT TAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAGAAAATACAATGATT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding	3/4			chr9	TogoVar
TRMO_chr9_97899489_97927500	97913251	T T	TAATCATT others(420): Show TAATCATTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTAGGTTTTTAAT GTAATTTATTTCTGTTCAGAAGGGTACATTTTCTATTGCCGATGAACTCT ATTTGGCTGACAGCAAAAATTAGATACTGAAATAGAGTAATTTTGCAACC ACATCCTTTAGCAGTTTTCATGCCTCCTCATTTTTGCTGCCAACTTATTA AAATAATCATCTAAACTATACAAGTTTTTTACATTTTCTCTTCACCTACA CACATTCTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATACTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(40): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01517.hp2 HG01975.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02300.hp2 HG03239.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp2 HG04228.hp1 NA18950.hp1 NA18957.hp2 NA18961.hp1 NA18973.hp1 NA18981.hp2 NA18988.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19011.hp2 NA19054.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp2 NA19075.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 others(23): Show a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075	43	374	0.1150	427	c.409 others(442): Show c.409+149_409+150insGGGGGGAGGGATAGTATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAGAATGTGTG TAGGTGAAGAGAAAATGTAAAAAACTTGTATAGTTTAGATGATTATTTTA ATAAGTTGGCAGCAAAAATGAGGAGGCATGAAAACTGCTAAAGGATGTGG TTGCAAAATTACTCTATTTCAGTATCTAATTTTTGCTGTCAGCCAAATAG AGTTCATCGGCAATAGAAAATGTACCCTTCTGAACAGAAATAAATTACAT TAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAGAAAATACAATGATT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding	3/4			chr9	TogoVar
TRMO_chr9_97899489_97927500	97913251	T T	TAATCATT others(420): Show TAATCATTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTAGGTTTTTAAT GTAATTTATTTCTGTTCAGAAGGGTACATTTTCTATTGCTGATGAACTCT ATTTGGCTGACAGCAAAAATTAGATACTGAAATAGAGTAATTTTGCAACC ACATCCTTTAGCAGTTTTCATGCCTCCTCATTTTTGCTGCCAACTTATTA AAATAATCATCTAAACTATACAAGTTTTTTACATTTTCTCTTCACCTACA CACATTCTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATACTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG00639.hp2 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	2	374	0.0054	427	c.409 others(442): Show c.409+149_409+150insGGGGGGAGGGATAGTATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAGAATGTGTG TAGGTGAAGAGAAAATGTAAAAAACTTGTATAGTTTAGATGATTATTTTA ATAAGTTGGCAGCAAAAATGAGGAGGCATGAAAACTGCTAAAGGATGTGG TTGCAAAATTACTCTATTTCAGTATCTAATTTTTGCTGTCAGCCAAATAG AGTTCATCAGCAATAGAAAATGTACCCTTCTGAACAGAAATAAATTACAT TAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAGAAAATACAATGATT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding	3/4			chr9	TogoVar
TRMO_chr9_97899489_97927500	97913251	T T	TAATCATT others(420): Show TAATCATTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGGTTTTTAA TGTAATTTATTTCTGTTCAGAAGGGTACATTTTCTATTGCCGATGAACTC TATTTGGCTGACAGCAAAAATTAGATACTGAAATAGAGTAATTTTGCAAC CACATCCTTTAGCAGTTTTCATGCCTCCTCATTTTTGCTGCCAACTTATT AAAATAATCATCTAAACTATACAAGTTTTTTACATTTTCTCTTCACCTAC ACACATTCTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATACTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02622.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0084 a0002c0002t0002g0086	2	374	0.0054	427	c.409 others(442): Show c.409+149_409+150insGGGGGGAGGGATAGTATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAGAATGTGTGT AGGTGAAGAGAAAATGTAAAAAACTTGTATAGTTTAGATGATTATTTTAA TAAGTTGGCAGCAAAAATGAGGAGGCATGAAAACTGCTAAAGGATGTGGT TGCAAAATTACTCTATTTCAGTATCTAATTTTTGCTGTCAGCCAAATAGA GTTCATCGGCAATAGAAAATGTACCCTTCTGAACAGAAATAAATTACATT AAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAGAAAATACAATGATT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding	3/4			chr9	TogoVar
UCKL1_chr20_63934829_63961416	63941959	T T	TGGGTGTG others(420): Show TGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCG GGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAG GGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGT GACAGCGGCAGGGAAAGGGGCGGGACCGGGAATGGGGTGTGGCAGGGCAG AAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGGGAATGGGGTG TGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCG GGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAG AGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGC GGCAGGGAAAGGGGCGGGGCCGGGAATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	356	0.0028	427	c.924 others(442): Show c.924-752_924-751insCATTCCCGGCCCCGCCCCTTTCCCTGCCGC TGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCTCT TTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCG GCCCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACA CCCCATTCCCGGCCCCGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCT GCCCTGCCACACCCCATTCCCGGTCCCGCCCCTTTCCCTGCCGCTGTCAC GCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCT GCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCG CCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942260	G G	GAATGGGG others(420): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGA GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGG GCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGG AAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGA CAGCGGCAGGGAAAGAGGCGGGGCCGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG03471.hp2 others(1): Show HG02258.hp2 HG02895.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0002t0001g0200	4	356	0.0112	427	c.924 others(444): Show c.924-1053_924-1052insTCCGGCCCCGCCTCTTTCCCTGCCGCTG TCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTT CCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGC CCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACC CCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGC CCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGC CTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGC CGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCC TCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UMAD1_chr7_7635752_7884223	7678970	T T	TTATATAT others(420): Show TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAATTTATAAATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG03139.hp1 others(1): Show HG02486.hp2 HG02717.hp1 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0039 a0001c0001t0059 a0001c0001t0061 others(1): Show a0001c0001t0039 a0001c0001t0059 a0001c0001t0061 a0001c0004t0039	a0001c0001t0039g0153 a0001c0001t0059g0151 a0001c0001t0061g0152 others(1): Show a0001c0001t0039g0153 a0001c0001t0059g0151 a0001c0001t0061g0152 a0001c0004t0039g0154	4	250	0.0160	427	c.82+ others(442): Show c.82+5536_82+5537insTATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAATTTATAAATATATATATATTTAGTTTATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679000	T T	TATATTTA others(420): Show TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATA TTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATTTACATA TTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATACATATTTAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0145 a0001c0001t0016g0145	1	250	0.0040	427	c.82+ others(442): Show c.82+5563_82+5564insTATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13A_chr19_17596336_17693354	17631180	T T	TCCCTCCC others(420): Show TCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCCT CCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCT CCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCT TCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTC CCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCC TCCCTCCCTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	320	0.0031	427	c.342 others(444): Show c.3429-431_3429-430insGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGA AGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAG GGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGG AGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAA GGAGGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGGAG GGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGG AGGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
USH2A_chr1_215617891_216428448	215805835	T T	TTTGGGAT others(420): Show TTTGGGATTAAGCAATTAGATAAAGCCAAGAATGAGGGCACCTCTATGTC TAGTCTGCACAAAAACAACTTTCAATATTGTAAGGGACACTGGGAGAACA CCTACTTTGCCTTTATTAGTGTATCTTAGAAAGACACAATCAAAAAAAAA AAAAAAAAAGGACAAACTGACAAAACAGCACCTCTCTGTGAAAGTAGCTG CTCTCATCTATCCATAACTGCCCTTGACATAGAAAGTGAGAAATTTCTAT GCAATTGTAAAAATAGAAGATTGATACTGGTGGTAGGTATATTATCTATC AAAAACCCTTCTAATTTTCCATTATCCCTTTCTAGGAATAACCAAATGTC TCAGCGGTACACATATCAAATAATTTTCAGATTCTGCCTTTATTTTTCTT TTCTTTCTTTTGGGATTAAGCAATTAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG03453.hp1 others(1): Show HG02559.hp2 HG02647.hp2 HG03453.hp1 HG03471.hp1	a0024 a0030 a0050 others(1): Show a0024 a0030 a0050 a0052	a0024c0032 a0030c0003 a0050c0013 others(1): Show a0024c0032 a0030c0003 a0050c0013 a0052c0010	a0024c0032t0005 a0030c0003t0001 a0050c0013t0001 others(1): Show a0024c0032t0005 a0030c0003t0001 a0050c0013t0001 a0052c0010t0013	a0024c0032t0005g0032 a0030c0003t0001g0018 a0050c0013t0001g0023 others(1): Show a0024c0032t0005g0032 a0030c0003t0001g0018 a0050c0013t0001g0023 a0052c0010t0013g0014	4	74	0.0541	427	c.974 others(446): Show c.9740-6711_9740-6710insTCTAATTGCTTAATCCCAAAAGAAAG AAAAGAAAAATAAAGGCAGAATCTGAAAATTATTTGATATGTGTACCGCT GAGACATTTGGTTATTCCTAGAAAGGGATAATGGAAAATTAGAAGGGTTT TTGATAGATAATATACCTACCACCAGTATCAATCTTCTATTTTTACAATT GCATAGAAATTTCTCACTTTCTATGTCAAGGGCAGTTATGGATAGATGAG AGCAGCTACTTTCACAGAGAGGTGCTGTTTTGTCAGTTTGTCCTTTTTTT TTTTTTTTTTTGATTGTGTCTTTCTAAGATACACTAATAAAGGCAAAGTA GGTGTTCTCCCAGTGTCCCTTACAATATTGAAAGTTGTTTTTGTGCAGAC TAGACATAGAGGTGCCCTCATTCTTGGCTTTATCTAATTGCTTAATCCCA A	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	49/71			chr1	TogoVar
VCX2_chrX_8164944_8176267	8169723	C C	CCCTCCCT others(420): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCT CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACCACC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0021 a0005c0006t0002g0021	1	115	0.0087	427	c.30 others(436): Show c.308_*309insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		220		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(420): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCC CACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTT CCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCT CCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCACCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	388	0.0052	427	c.83- others(442): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCAC AGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAA GATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGG GGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGG GGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGA TTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS53_chr17_503668_719839	645960	C C	CGCGTGGC others(420): Show CGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACG ACTGGAGACTGACTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC CACTGACTGGAGATCGGCTCCCACACACACAGGCTCCGTGACCGCGTGGC CACTGCCTCCTAAGGGTCTTATCTTTTCTAATCTGTATCACGGACTGGAG ACTGGCTCCCACACACATCTCCGTGACT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0005 a0003c0004t0022g0005	1	232	0.0043	427	c.608 others(444): Show c.608+7330_608+7331insAGTCACGGAGATGTGTGTGGGAGCCAGT CTCCAGTCCGTGATACAGATTAGAAAAGATAAGACCCTTAGGAGGCAGTG GCCACGCGGTCACGGAGCCTGTGTGTGTGGGAGCCGATCTCCAGTCAGTG GTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA CAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGG GAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGG AGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGTCAGTCTCCAGT CGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(420): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATGTCACATATATCACATGTGATATAT GTCACATATATCACATGTGATATATATCATATATCATATATATGATATAT ATCATATATATCATATATATGATATATATCATATATCATATATATGATAT ATATCACATATATATATCATATATATCACATATATATCATATATATCATA TATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	350	0.0029	427	c.-35 others(438): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATATA TCACATGTGATATATGTCACATATATCACATGTGATATATATCATATATC ATATATATGATATATATCATATATATCATATATATGATATATATCATATA TCATATATATGATATATATCACATATATATATCATATATATCACATATAT ATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(420): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACACCCCCCGCGCCGCACCTCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0310 a0001c0001t0030g0310	1	346	0.0029	427	c.181 others(448): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGAGGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCG GGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(420): Show ATATATATACAAGTATATATATACTTGTATACATATATACTATATATATA CATATATACACATATATACGTATATATGTATATATACATATATACATGTA TATACGTATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATATATACGTATATATACACATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATATACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATGTGTATATATA CATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	383	0.0026	427	c.-42 others(438): Show c.-4218_-4217insTATATATACAAGTATATATATACTTGTATACATA TATACTATATATATACATATATACACATATATACGTATATATGTATATAT ACATATATACATGTATATACGTATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATATATACGTATATATAC ACATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATGTGTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(421): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATAT TTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTAT ATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	306	0.0033	428	c.130 others(447): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATA AATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTA TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATA AATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATA TTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGA TATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATC TA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(421): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATA TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0006 a0001c0015t0009 a0001c0002t0006 a0001c0015t0009	a0001c0002t0006g0177 a0001c0015t0009g0292 a0001c0002t0006g0177 a0001c0015t0009g0292	2	306	0.0065	428	c.130 others(447): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT AT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACACB_chr12_109111587_109273226	109209976	C C	CACACACG others(421): Show CACACACGTGTGTGTATATATGTGTATACACACACATATATGTGTATATA TGTGTATACACACATATATGTGTATACACACACATATGTGTGTATATATA CACACATACATGCATGTGTGTATATATGTGTATATATACACACATACATG TATGTGTGTATATATACACACATACGTATGTGTGTATATATGTGTATATA TACACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTA TGTGTGTATATATGTGTATATATACACACATACGTATGTGTGTATATATG TGTATATATGTATATATACGTATATACACACGCGTGTATATATACGTATA TACACACACGTGTATATATGTATATATACACATATATGTGTATATACACA CGTACATATGTGTATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG06807.hp2 HG02280.hp2 HG02559.hp1 HG06807.hp2	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0064 a0007c0037 a0014c0121 a0001c0064 a0007c0037 a0014c0121	a0001c0064t0009 a0007c0037t0004 a0014c0121t0004 a0001c0064t0009 a0007c0037t0004 a0014c0121t0004	a0001c0064t0009g0184 a0007c0037t0004g0073 a0014c0121t0004g0169 a0001c0064t0009g0184 a0007c0037t0004g0073 a0014c0121t0004g0169	3	308	0.0097	428	c.324 others(445): Show c.3249+650_3249+651insCACACACATATATGTGTATATATGTGTA TACACACATATATGTGTATACACACACATATGTGTGTATATATACACACA TACATGCATGTGTGTATATATGTGTATATATACACACATACATGTATGTG TGTATATATACACACATACGTATGTGTGTATATATGTGTATATATACACA CATACGTATGTGTGTATATATGTGTATATATACACACATACGTATGTGTG TATATATGTGTATATATACACACATACGTATGTGTGTATATATGTGTATA TATGTATATATACGTATATACACACGCGTGTATATATACGTATATACACA CACGTGTATATATGTATATATACACATATATGTGTATATACACACGTACA TATGTGTATATATGTGTATATATACACACGTGTGTGTATATATGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(421): Show AGGGGAAGAGGGAGGAGGGAGGGGGAGGGGGGAGGAGGGGAGGGGGGGAG GGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGG AGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGA GGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGG AGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGG GGACGGGGGAGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	352	0.0028	428	c.51 others(439): Show c.5165_*5166insCCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCC CTCCTCCCCCCCTCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCCTCCTC CCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCC CCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCC CCCCTCCCCTCCTCCCCCCTCCCCCTCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(421): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTT CCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTT TCTTCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0039 a0004c0013t0039	a0004c0013t0039g0069 a0004c0013t0039g0069	1	262	0.0038	428	c.106 others(447): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGG AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGA AGGAAGGGAGGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAG GGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(421): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTC ACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCC CCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGT GTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGG AGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAG GCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGG GGTCATTCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0002	a0016c0018t0002g0239 a0016c0018t0002g0239	1	326	0.0031	428	c.62 others(439): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAG GAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCA GTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGT CATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCC CTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTG TGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGA GGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
ALK_chr2_29187774_29926586	29830944	A A	AGGGGAAG others(421): Show AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGA GCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAG CAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAG GAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCA GGAGGAGGAGGAGCAGGAGGAGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0033 a0002c0001t0001g0033	1	80	0.0125	428	c.667 others(447): Show c.667+89048_667+89049insGCTCCTCCTCCTCCTGCTCCTCCTCC TCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGC TCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTC CTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCC TGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(421): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0235 a0001c0001t0079g0235	1	256	0.0039	428	c.39 others(437): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACATATACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ATTCCGAC others(421): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0197 a0011c0008t0001g0197	1	300	0.0033	428	c.655 others(447): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ACTCATTC others(421): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0015 a0015	a0015c0047 a0015c0047	a0015c0047t0001 a0015c0047t0001	a0015c0047t0001g0055 a0015c0047t0001g0055	1	300	0.0033	428	c.654 others(447): Show c.654+22373_654+22374insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATG AG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ATTCCGAC others(421): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0086 a0007c0086	a0007c0086t0001 a0007c0086t0001	a0007c0086t0001g0279 a0007c0086t0001g0279	1	300	0.0033	428	c.654 others(447): Show c.654+22373_654+22374insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(421): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02698.hp2 HG03688.hp2 others(1): Show HG02055.hp2 HG02698.hp2 HG03688.hp2 HG04115.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0001 a0006c0007 a0013c0010 a0001c0001 a0006c0007 a0013c0010	a0001c0001t0001 a0006c0007t0002 a0013c0010t0001 a0001c0001t0001 a0006c0007t0002 a0013c0010t0001	a0001c0001t0001g0066 a0006c0007t0002g0294 a0013c0010t0001g0178 others(1): Show a0001c0001t0001g0066 a0006c0007t0002g0294 a0013c0010t0001g0178 a0013c0010t0001g0252	4	300	0.0133	428	c.654 others(447): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATG AG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(421): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGGCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGG ACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCA GGGAGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGG GAGCCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAA GCCTGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show HG00438.hp1 HG01891.hp1 HG02132.hp2 HG02165.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0005t0003	a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0014t0001g0012 a0002c0005t0003g0055 a0002c0005t0003g0056 a0002c0005t0003g0057	8	266	0.0301	428	c.297 others(445): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGT GTATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1417813	C C	CACTGTGT others(421): Show CACTGTGTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACC TGTGTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGT GTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGT CCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGTGTCCT GCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGTGTCCTGCT TCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTC TGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTCTG TTGGCTGTTTCTTCTCTTGTGAGTGGGTCACCTGTGTCCTGCTTCTGTGG GCTGTTTCTTCTCTTGAGAGTGGGTCACA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0018 a0001c0026t0018	a0001c0026t0018g0183 a0001c0026t0018g0183	1	360	0.0028	428	c.92- others(445): Show c.92-18227_92-18226insACTGTGTCCTGCTTCTGTGGGCTGTTTC TTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGTGGGCTGTTTCTTC TCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGTGGGCTGTTTCTTCTCT TGAGAGTGGGTCACACTGTGTCCTGCTTCTGTTGGCAGTTTCTTCTCTTG AGAGTGGTTCTCCTGTGTCCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGA GTGGTTCTCCTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTG GGTCACACTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGG TCACACTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGTGAGTGGGTC ACCTGTGTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar

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