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	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
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(290): Show TATATATTATATATACATATATATTATATATACATATATATTATATATAT ACATATATATTATATATACATATATATTATATATACATATATATTATATA TATACATATATATTATATATACATATATATTATATATATACATATATATT ATATATACATATATATTATATATATACATATATATTATATATACATATAT ATTATATATACATATATATTATATATATACATATATATTATATATACATA TATATTATATATACATATATATTATATATACATATATATTATATATAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0043 a0043	a0043c0048 a0043c0048	a0043c0048t0001 a0043c0048t0001	a0043c0048t0001g0079 a0043c0048t0001g0079	1	233	0.0043	297	c.277 others(314): Show c.277-1534_277-1533insATTATATATATACATATATATTATATAT ACATATATATTATATATACATATATATTATATATATACATATATATTATA TATACATATATATTATATATATACATATATATTATATATACATATATATT ATATATATACATATATATTATATATACATATATATTATATATACATATAT ATTATATATATACATATATATTATATATACATATATATTATATATACATA TATATTATATATACATATATATTATATATACATATATTATATATACATAT ATATTATATATACATATAT		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFB_chr16_14066319_14271773	14222883	C C	CAAAAGAT others(290): Show CAAAAGATACAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGC ACTCTCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0231 a0001c0001t0029g0231	1	238	0.0042	297	c.693 others(314): Show c.693+3903_693+3904insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG CAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCAC AGCACTCTCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAGATACAAAGAAGGC		MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSH4_chr1_75791882_75918242	75885818	A A	ATTATAAT others(290): Show ATTATAATATATATACCTGATATATTTAAGGTATTATATATAATACCTTA TATATTATATATATAATACCTTATAAGGTATTATATATAATATTATATAT TATATATAATATATATAATATATATAATATATAAATGTATATATTATATA TTATACATATATATTATATACATATATTATATATAATATATATTTTATAT ATTATATATGTATATATGTAATATATATAACCTTCACATTTATTTCAGTT ATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	248	0.0040	297	c.210 others(316): Show c.2107+1998_2107+1999insTATAATATATATACCTGATATATTTA AGGTATTATATATAATACCTTATATATTATATATATAATACCTTATAAGG TATTATATATAATATTATATATTATATATAATATATATAATATATATAAT ATATAAATGTATATATTATATATTATACATATATATTATATACATATATT ATATATAATATATATTTTATATATTATATATGTATATATGTAATATATAT AACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGT TATTTTGTGTATATATAAAGT		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75885818	A A	ATTATAAT others(290): Show ATTATAATATATATACCTGATATATTTAAGGTATTATATATAATACCTTA TATATTATATATATAATACCTTATAAGGTATTATATATAATATTATATAT TATATATAATATATATATTATATATAATATATAAATGTATATATTATATA TTATACATATATATTATATACATATATTATATATAATATATATTTTATAT ATTATATATGTATATATGTAATATATATAACCTTCACATTTATTTCAGTT ATATAATGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03669.hp1 NA18973.hp2 others(3): Show HG01993.hp1 HG03669.hp1 NA18973.hp2 NA19012.hp2 NA19062.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0218 others(3): Show a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0245 a0001c0001t0001g0263 a0005c0007t0001g0224	6	253	0.0237	297	c.210 others(316): Show c.2107+1998_2107+1999insTATAATATATATACCTGATATATTTA AGGTATTATATATAATACCTTATATATTATATATATAATACCTTATAAGG TATTATATATAATATTATATATTATATATAATATATATATTATATATAAT ATATAAATGTATATATTATATATTATACATATATATTATATACATATATT ATATATAATATATATTTTATATATTATATATGTATATATGTAATATATAT AACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGT TATTTTGTGTATATATAAAGT		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906504	T T	TAATATTG others(290): Show TAATATTGTATATATTATATATAATATATATAATATTGTATATATTATAT ATAATATATACAATATTATATATATTATATATAATATATACAATATTATA TATATTATATATAATATATACAATATTTATATATATTATATATATAATAT ATAATATATACATATTATATATTATATATAATATATATACATATTATATA TTATATATATAATATATATACATATTATATATAATATATATACATATTAT ATTATATATAATATATATACATATTATATATAATATATAATATATTAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0152 a0001c0004t0003g0152	1	330	0.0030	297	c.262 others(316): Show c.2620-6191_2620-6190insATATTGTATATATTATATATAATATA TATAATATTGTATATATTATATATAATATATACAATATTATATATATTAT ATATAATATATACAATATTATATATATTATATATAATATATACAATATTT ATATATATTATATATATAATATATAATATATACATATTATATATTATATA TAATATATATACATATTATATATTATATATATAATATATATACATATTAT ATATAATATATATACATATTATATTATATATAATATATATACATATTATA TATAATATATAATATATTACA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(290): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCCGTGTGGGGGGGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGG GGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGG GGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	218	0.0046	297	c.159 others(314): Show c.1596+173_1596+174insGGGCCCGTGTGGGGGGGCGTGGAGGAGG GGCGCGTGGAGGAGGAGGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGG GTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767934	A A	AGGGGGGG others(290): Show AGGGGGGGCGTGTGGGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGC GCATGGGGGGGCGTGGAGGGGGGCGCGTGGGGGGCACGTGGAGGGGGGGC GTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	312	0.0032	297	c.159 others(314): Show c.1597-441_1597-440insGGGCGTGTGGGGGGGCGCGTGGAGGGGG GAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGG GGGGCGCGTGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGGGG GCACGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGG AGGGGCGCGTGGAGGGGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTSS1_chr8_124545784_124733473	124717411	T T	TCTTGAAC others(290): Show TCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGC ACACTCCGGCCTGGGGGACAGATACTCGGGAGGCTGAGGCAGGAGAATCA CTTGAACCTGGGAGGCAGAGGTGGCAGCGAGCCAAGATTGCACCACTGCA CACTCCGGCCTGGGGGACAGATACTCGGGAGGCTGAGGCAGGAGAATCAC TTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCAC ACTCCGGCCTGGGGGACAGATACTCGGGAGGCTGAGGCAGGAGAATCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	233	0.0043	297	c.72+ others(314): Show c.72+10472_72+10473insTGATTCTCCTGCCTCAGCCTCCCGAGTA TCTGTCCCCCAGGCCGGAGTGTGCAGTGGTGCAATCTTGGCTCACTGCAA CCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAT CTGTCCCCCAGGCCGGAGTGTGCAGTGGTGCAATCTTGGCTCGCTGCCAC CTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTATC TGTCCCCCAGGCCGGAGTGTGCAGTGGTGCAATCTTGGCTCACTGCAACC TCTGCCTCCCAGGTTCAAG		MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	1/13						chr8	TogoVar
MXRA8_chr1_1347691_1363555	1350946	G G	GGAGGGGG others(290): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC GCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACCGGGCAGGAGCGACGG GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAG GAGGGGGCCTGGACGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTG GACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAG GAGCGACGGGGGGAGTGAGGAGGGGGCCGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	307	0.0033	297	c.26 others(308): Show c.2657_*2658insACTCCCCCCGTCGCTCCTGCGGCCCCCTCCTCAC TCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTC GCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCC GTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCC CCTCCTCACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCACTCCC CCCGTCGCTCCTGCGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCGG TCCAGGCCCCCTC		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					1744		chr1	TogoVar
MYO1F_chr19_8515778_8582442	8543885	G G	GTGGTGGT others(290): Show GTGGTGGTGGTGGTGCTGGTGCTGGTGCTGGTGGTGCTGGTGCTGGTGCT GGTGGTGGTGCTGGTGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGC TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTG GTGGTGGTGGTGCTGGTGCTGGTGCTGGTGGTGGCGGTGGCGGTGGCGGT GGCGGTGGCGGTGGCGGTGGCGGTGCTGGTGGTGCTGGTGGTGCTGGTGG TGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	323	0.0031	297	c.152 others(314): Show c.1524+411_1524+412insGCACCACCAGCACCACCACCACCACCAC CACCACCACCACCAGCACCACCACCAGCACCACCAGCACCACCAGCACCG CCACCGCCACCGCCACCGCCACCGCCACCGCCACCGCCACCACCAGCACC AGCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACCACCAC CACCACCACCACCACCACCAGCACCGCCACCGCCACCGCCACCGCCACCG CCACCACCAGCACCACCACCAGCACCAGCACCAGCACCACCAGCACCAGC ACCAGCACCACCACCACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYOM2_chr8_2040046_2150456	2086178	G G	GCACCCCA others(290): Show GCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCCG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGT GATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCACCCCAC AGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0038 a0002c0016t0001g0039 a0002c0016t0001g0038 a0002c0016t0001g0039	2	281	0.0071	297	c.164 others(314): Show c.1644+789_1644+790insACCCCACTGTCGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGT GGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGAT CTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTG ATCTCTGCGTGGCACCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGT TGTGATCTCTGCGTGGCCC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64176333	C C	CCTCCTGC others(290): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0127 a0001c0002t0006g0127	1	212	0.0047	297	c.-99 others(316): Show c.-99+11646_-99+11647insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(290): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGGAGGGAAGAGGAAGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAG GAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAG GAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGA GAGAGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0085 a0001c0001t0090g0085	1	7	0.1429	297	c.887 others(314): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCTC CCTCCCTCTTCCCTCCCTC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5						chr9	TogoVar
NDUFC1_chr4_139284931_139307477	139289120	A A	AAGACTCC others(290): Show AAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCC TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02083.hp2 HG02698.hp2 others(4): Show HG00597.hp1 HG02083.hp2 HG02698.hp2 NA18953.hp1 NA18970.hp1 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0080 a0001c0001t0002g0158 a0001c0001t0002g0006 a0001c0001t0002g0080 a0001c0001t0002g0158	7	346	0.0202	297	c.99 others(306): Show c.992_*993insCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTG AGACGGAGTCT		NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding					810		chr4	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(290): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01361.hp2 others(7): Show HG00673.hp1 HG01106.hp1 HG01361.hp2 HG02155.hp2 HG02622.hp2 HG03098.hp1 HG04228.hp1 NA18964.hp2 NA18983.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0151 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0002g0081 a0001c0001t0002g0160	10	202	0.0495	297	c.98 others(306): Show c.980_*981insTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGC AGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT TTTTTTTTTTT		NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding					798		chr4	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(290): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00741.hp1 others(21): Show HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp2 HG02080.hp1 HG02148.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 NA18963.hp1 NA18966.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA19003.hp2 NA19074.hp2 NA19077.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0005 a0001c0001t0001g0249 a0001c0001t0001g0275 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0249 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0023g0292	24	276	0.0870	297	c.373 others(314): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGTCTAGTTCTCTT		NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NLRP12_chr19_53788741_53829314	53794571	C C	CGGCCTCC others(290): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCA TAATTTTTTTTTTTTATATACTGAGTCTTGCTGTCACCCAGGCTGGAGTG GGGTAGTGTGATCTCGGCTCACTGCAACCTCCACGTCCCATGTCCTAGTG ATCCTCCCACCTCAGCCTCCCTAGTAGCTGGGACTATAGGTGCGTGCTAC CATGCCCAGCTAATTTTTGTATTTTTAGCAGAGACAGGGATTCACCATGT TGGCCAGGCTGGTCTGGAACTCCTGACCTGAAGCAATCTGCTCATCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0012 a0002c0034t0012	a0002c0034t0012g0172 a0002c0034t0012g0172	1	212	0.0047	297	c.309 others(314): Show c.3099-436_3099-435insAAGATGAGCAGATTGCTTCAGGTCAGGA GTTCCAGACCAGCCTGGCCAACATGGTGAATCCCTGTCTCTGCTAAAAAT ACAAAAATTAGCTGGGCATGGTAGCACGCACCTATAGTCCCAGCTACTAG GGAGGCTGAGGTGGGAGGATCACTAGGACATGGGACGTGGAGGTTGCAGT GAGCCGAGATCACACTACCCCACTCCAGCCTGGGTGACAGCAAGACTCAG TATATAAAAAAAAAAAATTATGGCCGGGCATGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCC		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	9/9						chr19	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGTGT others(290): Show GGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	311	0.0032	297	c.91+ others(310): Show c.91+393_91+394insGTGTGGGGGGGGTGAGGGAGTCGGGGGGGTGG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(290): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	299	0.0033	297	c.91+ others(310): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAG TCGGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366436	T T	TTTTTAAA others(290): Show TTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAA AAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAA GTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATAC TTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAA AAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAGT ACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp2 HG03225.hp2 HG02258.hp2 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0018 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0002g0018 a0001c0001t0005g0062 a0001c0001t0005g0063	3	164	0.0183	297	c.175 others(318): Show c.1757+68667_1757+68668insGTATTCTTTTTTAAAAGTACTTTT TAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTC TTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTA AAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAA GTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTC TTTTTTAAAAGTACTTTTTAAAA		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(290): Show TCCTCTCCTCTCCTCTCGTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCC TCCCCTCCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0211 a0001c0001t0098g0211	1	30	0.0333	297	c.433 others(314): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GACGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NTM_chr11_131365615_132341822	131789639	G G	GAAGAAGA others(290): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0071 a0002c0003t0006g0071	1	83	0.0120	297	c.83- others(316): Show c.83-121896_83-121895insGAAGAAGAAGAAGAAGAAGAAGAAAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAA GAAGAAGAAGAAGAAGAAGAA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(290): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0160 a0004c0004t0009g0160	1	313	0.0032	297	c.-30 others(308): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACTTTAAATG		NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding					2982		chr8	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AGAAAGAA others(290): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0000 a0011c0016t0001g0000	1	302	0.0033	297	c.64 others(306): Show c.641_*642insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					642		chr9	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	62	0.0161	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19066.hp2 NA18971.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	63	0.0317	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18940.hp2 NA19002.hp2 HG01081.hp2 NA18940.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0001g0143	3	64	0.0469	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18947.hp2 NA18951.hp2 others(1): Show HG00408.hp1 NA18947.hp2 NA18951.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0187	4	65	0.0615	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	62	0.0161	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(290): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19005.hp1 NA19057.hp1 others(2): Show NA18941.hp2 NA19005.hp1 NA19057.hp1 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0161 a0001c0001t0001g0162	5	66	0.0758	297	c.155 others(314): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(290): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTT CCCCTCCCTCTCCCTTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTCCCC CCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCA CTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTCCCC CTCCCCCTCCCCTGCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0016 a0016	a0016c0066 a0016c0066	a0016c0066t0002 a0016c0066t0002	a0016c0066t0002g0323 a0016c0066t0002g0323	1	7	0.1429	297	c.-37 others(308): Show c.-3700_-3699insGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG CAGGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGG AGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGG AGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGGAGGGCAA GGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(290): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCC CACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTCC CCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0257 a0001c0053t0001g0257	1	7	0.1429	297	c.-37 others(308): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGAGG GGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGGC AAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CTCCCTCC others(290): Show CTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTC CTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	231	0.0043	297	c.43 others(308): Show c.4384_*4385insAGGAGGGAGGAGGAGGGAGGGAGGAAGGAGGGAG GAGGAGGGAGGAAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGG GAGGAGGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGG GGAGGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGA GGAAGAAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAG GAGGAAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGGGAGGAAGGAGGGAG GAGGAGGGAGGGA		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2592		chr1	TogoVar
PEX5_chr12_7184686_7216459	7203172	A A	AACTGGAC others(290): Show AACTGGACTGGACTGGACTGGACTGGACTGGACTGGACTAGACTAGACTA GACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAGAC ACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGA CACGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTAT AGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAG ACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(4): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0214 a0001c0001t0008g0006 a0001c0001t0008g0214	7	425	0.0165	297	c.847 others(312): Show c.847-257_847-256insGGACTGGACTGGACTGGACTGGACTGGACT GGACTAGACTAGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACA CTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGAC ACTAGACTAGACTAGACACGACTAGACTATAGACTAGACACTAGACTAGA CACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACA CTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTAT AGACTAGACTATAGACT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACGAC others(290): Show TAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAGACACT AGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTATAGAC TAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTA GACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGA CACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTACACTAC ACTACACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19005.hp1 NA19000.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0077 a0001c0009t0001g0097 a0001c0001t0001g0077 a0001c0009t0001g0097	2	268	0.0075	297	c.847 others(312): Show c.847-209_847-208insGACGACTAGACTAGACTCTAGACTAGACAC TAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACA CTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTAT AGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAG ACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGAC TAGACTATACTACACTACACTACACTACACTACACTACACTACACTAACT AAACACACAACACTAAA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(290): Show TAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAG ACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGA CTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTAC ACTACACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19082.hp2 HG00609.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0073 a0001c0001t0001g0088	2	268	0.0075	297	c.847 others(312): Show c.847-209_847-208insGACTAGACGACTAGACTAGACTCTAGACTA GACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGAC ACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTA TAGACTAGACTATACTACACTACACTACACTACACTACACTACACTAACT AAACACACAACACTAAA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(290): Show TAGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTA GACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGA CACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACT ATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTAT ACTACACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18952.hp1 NA18963.hp1 others(2): Show HG02056.hp1 NA18952.hp1 NA18963.hp1 NA18992.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0135 a0003c0004t0001g0158	5	271	0.0185	297	c.847 others(312): Show c.847-209_847-208insGACTAGACTAGACGACTAGACTAGACTCTA GACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACT AGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAG ACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGAC TAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTA GACTATAGACTAGACTATACTACACTACACTACACTACACTACACTAACT AAACACACAACACTAAA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIGZ_chr3_196941356_196973833	196948941	T T	TCCCCTCC others(290): Show TCCCCTCCCCTCCCTTCCTTCCCTTCCCCTTCCCTTCCTTCCCTTCCCCT CCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTT CCCTTCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCC TTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTTACTTCTC TTCCCCTCCCCTCCCTTCCCTTCCTTTCCTTTACTTCCCTTCCTTCCCCT CCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0329 a0002c0005t0001g0330 a0002c0005t0001g0329 a0002c0005t0001g0330	2	350	0.0057	297	c.212 others(312): Show c.212-257_212-256insGAAGGAAGGGAGGGGAGGGGAAGGGAAGGA AGGGAAGGAAGGGAGGGGAGGGGAAGGAAGGGAAGTAAAGGAAAGGAAGG GAAGGGAGGGGAGGGGAAGAGAAGTAAAGGGAAGGAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGG AAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGGA AGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAAGGGGAAGGGAA GGAAGGGAGGGGAGGGG		PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2						chr3	TogoVar
PJA2_chr5_109329722_109414974	109354164	A A	AGAGATAT others(290): Show AGAGATATCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAG ATATCTATGATATCTAGAGATGTCTATAGATTAGATATCTATGATGTCTA GAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATT AGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCGATATCTAG AGATATCTATAGATTAGATATCGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTCGAGATATCTATAGATTAGATATCTATGATATCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0100 a0003c0003t0002g0100	1	333	0.0030	297	c.176 others(316): Show c.1764+1750_1764+1751insGAGATATCATAGATATCTAATCTATA GATATCTCGAGATATCATAGATATCTAATCTATAGATATCTCTAGATATC GATATCTAATCTATAGATATCTCTAGATATCGATATCTAATCTATAGATA TCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAG ATATCTAATCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGA CATCTCTAGATATCATAGATATCTAATCTATAGACATCTCTAGATATAGA TATCTAATCTATAGATATCTC		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(290): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0001 a0001c0083t0001	a0001c0083t0001g0125 a0001c0083t0001g0125	1	41	0.0244	297	c.575 others(318): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(290): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0027 a0027	a0027c0073 a0027c0073	a0027c0073t0005 a0027c0073t0005	a0027c0073t0005g0094 a0027c0073t0005g0094	1	41	0.0244	297	c.575 others(318): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCT CCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(290): Show ATATATATAATTATATAATTATTTATTATATAATGATATATAATTATATA ATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT TATATATAATTATATAATTATTTATTATATAATTATATATAATTATATAA TTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAATT ATATATAATTATATAATTATTTATTATATAATTATATATAATTATATAAT TATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01934.hp2 HG02647.hp1 others(3): Show HG01074.hp1 HG01934.hp2 HG02647.hp1 HG02895.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 a0001c0002t0012 a0001c0004t0019 a0001c0006t0002	a0001c0001t0001g0015 a0001c0001t0014g0007 a0001c0002t0003g0023 others(3): Show a0001c0001t0001g0015 a0001c0001t0014g0007 a0001c0002t0003g0023 a0001c0002t0012g0041 a0001c0004t0019g0058 a0001c0006t0002g0054	6	90	0.0667	297	c.862 others(314): Show c.862+3274_862+3275insGATATATAATTATATAATTATTTATTAT ATAATTATATATAATTATATAATTATTTATTATATAATTATATATAATTA TATAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATA TAATTATATATAATTATATAATTATTTATTATATAATTATATATAATTAT ATAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATAT AATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATA TAATTATTTATTATATAAT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(290): Show ATATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT TATATATAATTATATAATTATTTATTATATAATTATATATAATTATATAA TTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAATT ATATATAATTATATAATTATTTATTATATAATTATATATAATTATATAAT TATTTATTATATAATTATATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG02622.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0002 a0001c0023	a0001c0002t0001 a0001c0023t0003 a0001c0002t0001 a0001c0023t0003	a0001c0002t0001g0031 a0001c0023t0003g0106 a0001c0002t0001g0031 a0001c0023t0003g0106	2	86	0.0233	297	c.862 others(314): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATAT AATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTA TTATATAATTATATATAAT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLIN4_chr19_4497192_4523486	4511590	A A	AGTCTTGG others(290): Show AGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAAGTTCA CAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACA GACTTTGTAGTGTCCAGGCCCCCCTGGACGGCCCCTTTGGCCACATTCGC AGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGTACCTGTTGCGATAT TTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACGTTCACA GCACCGGTGACCCCACTGCAGACGGTGTCCTTGGTACCGGTCAGCATG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 HG02109.hp1 HG02145.hp1 others(13): Show HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02572.hp2 HG02615.hp1 HG02896.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0004 a0031 a0035 others(4): Show a0004 a0031 a0035 a0036 a0041 a0045 a0046	a0004c0009 a0004c0026 a0004c0041 others(6): Show a0004c0009 a0004c0026 a0004c0041 a0031c0104 a0035c0042 a0036c0061 a0041c0103 a0045c0102 a0046c0106	a0004c0009t0001 a0004c0009t0004 a0004c0009t0023 others(10): Show a0004c0009t0001 a0004c0009t0004 a0004c0009t0023 a0004c0026t0001 a0004c0026t0004 a0004c0026t0034 a0004c0041t0026 a0031c0104t0001 a0035c0042t0001 a0036c0061t0001 a0041c0103t0012 a0045c0102t0012 a0046c0106t0001	a0004c0009t0001g0027 a0004c0009t0004g0028 a0004c0009t0004g0059 others(11): Show a0004c0009t0001g0027 a0004c0009t0004g0028 a0004c0009t0004g0059 a0004c0009t0023g0058 a0004c0026t0001g0104 a0004c0026t0004g0103 a0004c0026t0034g0105 a0004c0041t0026g0057 a0031c0104t0001g0074 a0035c0042t0001g0060 a0036c0061t0001g0259 a0041c0103t0012g0073 a0045c0102t0012g0072 a0046c0106t0001g0268	16	410	0.0390	297	c.236 others(306): Show c.2369_2370insCATGCTGACCGGTACCAAGGACACCGTCTGCAGTGG GGTCACCGGTGCTGTGAACGTGGCCAAGGGTGCTGTGCAAACTGGGCTGA AAACGACCCAAAATATCGCAACAGGTACAAAGAACACCCTTGGCAGTGGG GTGACCGGTGCTGCGAATGTGGCCAAAGGGGCCGTCCAGGGGGGCCTGGA CACTACAAAGTCTGTCCTGACTGGCACTAAAGATGCTGTGTCCACTGGGC TCACAGGGGCTGTGAACTTGGCCAAAGGGACTGTCCAGACCGGCATGGAC ACCACCAAGAC	p.Thr others(310): Show p.Thr790_Val791insMetLeuThrGlyThrLysAspThrValCysSe rGlyValThrGlyAlaValAsnValAlaLysGlyAlaValGlnThrGlyL euLysThrThrGlnAsnIleAlaThrGlyThrLysAsnThrLeuGlySer GlyValThrGlyAlaAlaAsnValAlaLysGlyAlaValGlnGlyGlyLe uAspThrThrLysSerValLeuThrGlyThrLysAspAlaValSerThrG lyLeuThrGlyAlaValAsnLeuAlaLysGlyThrValGlnThrGlyMet AspThrThrLysThr	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2488/6502	2369/4116	790/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511626	T T	TTTGGCCA others(290): Show TTTGGCCAAGTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAG TGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCCTGGACGGCCCCT TTGGCCACATTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGT ACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCT TGGCCACGTTCACAGCACCGGTGACCCCACTGCAGACGGTGTCCTTGGTA CCGGTCAGCATGGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp2 HG01109.hp1 HG01884.hp2 others(5): Show HG00735.hp2 HG01109.hp1 HG01884.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1	a0005 a0023 a0005 a0023	a0005c0019 a0005c0032 a0005c0076 others(1): Show a0005c0019 a0005c0032 a0005c0076 a0023c0074	a0005c0019t0006 a0005c0032t0006 a0005c0076t0031 others(1): Show a0005c0019t0006 a0005c0032t0006 a0005c0076t0031 a0023c0074t0020	a0005c0019t0006g0016 a0005c0019t0006g0070 a0005c0032t0006g0069 others(3): Show a0005c0019t0006g0016 a0005c0019t0006g0070 a0005c0032t0006g0069 a0005c0032t0006g0100 a0005c0076t0031g0278 a0023c0074t0020g0096	8	410	0.0195	297	c.233 others(306): Show c.2333_2334insGGGGACTGTCCAGACCGGCATGGACACCACCAAGAC CATGCTGACCGGTACCAAGGACACCGTCTGCAGTGGGGTCACCGGTGCTG TGAACGTGGCCAAGGGTGCTGTGCAAACTGGGCTGAAAACGACCCAAAAT ATCGCAACAGGTACAAAGAACACCCTTGGCAGTGGGGTGACCGGTGCTGC GAATGTGGCCAAAGGGGCCGTCCAGGGGGGCCTGGACACTACAAAGTCTG TCCTGACTGGCACTAAAGATGCTGTGTCCACTGGGCTCACAGGGGCTGTG AACTTGGCCAA	p.Lys others(310): Show p.Lys778_Gly779insGlyThrValGlnThrGlyMetAspThrThrLy sThrMetLeuThrGlyThrLysAspThrValCysSerGlyValThrGlyA laValAsnValAlaLysGlyAlaValGlnThrGlyLeuLysThrThrGln AsnIleAlaThrGlyThrLysAsnThrLeuGlySerGlyValThrGlyAl aAlaAsnValAlaLysGlyAlaValGlnGlyGlyLeuAspThrThrLysS erValLeuThrGlyThrLysAspAlaValSerThrGlyLeuThrGlyAla ValAsnLeuAlaLys	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2452/6502	2333/4116	778/1371			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512934	A A	AGTCACCC others(290): Show AGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTG GTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACT GGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTGG TCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTG GTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02886.hp1 HG02886.hp1	a0034 a0034	a0034c0058 a0034c0058	a0034c0058t0019 a0034c0058t0019	a0034c0058t0019g0276 a0034c0058t0019g0276	1	408	0.0025	297	c.102 others(306): Show c.1025_1026insCAGTGCCATGAATGTGGCCAAAGGAACCATCCAGAC CGGCGTGGACACCAGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCT GTAGTGGGGTGACCAGTGCCATGAATGTGGCCAAAGGAACCATCCAGACC GGCGTGGACACCAGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTG TAGTGGGGTGACCAGTGCCATGAATGTGGCCAAAGGAACCATCCAGACCG GCGTGGACACCAGTAAGACTGTCCTAACAGGTACCAAGGACACCGTCTGT AGTGGGGTGAC	p.Thr others(310): Show p.Thr342_Gly343insSerAlaMetAsnValAlaLysGlyThrIleGl nThrGlyValAspThrSerLysThrValLeuThrGlyThrLysAspThrV alCysSerGlyValThrSerAlaMetAsnValAlaLysGlyThrIleGln ThrGlyValAspThrSerLysThrValLeuThrGlyThrLysAspThrVa lCysSerGlyValThrSerAlaMetAsnValAlaLysGlyThrIleGlnT hrGlyValAspThrSerLysThrValLeuThrGlyThrLysAspThrVal CysSerGlyValThr	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1144/6502	1025/4116	342/1371			chr19	TogoVar
POLN_chr4_2066918_2247121	2080476	G G	GGGGGCAG others(290): Show GGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAAC AGGTAGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGT GGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCC TGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGG GCACACTGCCTGGCACTGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCT GGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0103 a0002c0001t0001g0103	1	192	0.0052	297	c.238 others(314): Show c.2387+481_2387+482insACCCCTACCTGTTGCTGCCACCAGTGCC AGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGC CACAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACC TGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCC CACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCA GCTCTGCCCCCACCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCC CCACGCCCAGCTCTGCCCC		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25						chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(290): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	305	0.0033	297	c.50- others(312): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGACAAGTACA		PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
PRDM16_chr1_3064203_3443621	3167765	A A	ACCCCACC others(290): Show ACCCCACCCCTGCCTCCCAGCGCCTCTGTGGCATTGCCCCCTGCTCCTGC CATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCCCCC CTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTGTGA CATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGC GCCTCTGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCGCCCCACCCCT GCCTCCCAGCGCCTCTGTGGCATCGCCTCCGCTCCTGCCATCCTCCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0085 a0001c0008t0085	a0001c0008t0085g0003 a0001c0008t0085g0003	1	195	0.0051	297	c.38- others(314): Show c.38-18331_38-18330insGCATTGCCCCCTGCTCCTGCCATCCTCC CACCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCCCCCCTGCTCCT GCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCCC CCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTGT GACATTGCCCCCCTGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCA GCGCCTCTGTGGCATCGCCTCCGCTCCTGCCATCCTCCCGCCCCACCCCT GCCTCCCAGCGCCTCTGTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRICKLE1_chr12_42451757_42594746	42466755	G G	GAAAGAAA others(290): Show GAAAGAAAACTCATACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0230 a0001c0002t0015g0230	1	296	0.0034	297	c.589 others(312): Show c.589-376_589-375insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTATGAGTTTTCTTT		PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	5/7						chr12	TogoVar

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