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
KLHDC4_chr16_87702812_87770986	87738691	T T	TCCGCACA others(395): Show TCCGCACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	338	0.0030	402	c.507 others(419): Show c.507-8048_507-8047insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG ATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGCGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738848	T T	TCCACACA others(395): Show TCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCACCCACACA CCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02559.hp1 HG02896.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0004 a0008c0009t0004 a0001c0001t0004 a0008c0009t0004	a0001c0001t0004g0034 a0008c0009t0004g0035 a0001c0001t0004g0034 a0008c0009t0004g0035	2	366	0.0055	402	c.507 others(419): Show c.507-8205_507-8204insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(395): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG01243.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0151 a0001c0001t0001g0020 a0001c0001t0001g0151	2	324	0.0062	402	c.507 others(419): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATACTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(395): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	77	0.0130	402	c.-27 others(413): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360429	A A	ATAGGGAG others(395): Show ATAGGGAGGGGGTGGGGTGGGTGCATAGGTAGGGGGGTGGATGGGTCAGC AGGCAGCGGGATGGGATAGGATAGGTGGGTGGGTGGAGGGATAGATGGGT GGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGG GTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGGGGGTGGGTGG GTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGT GGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0027 a0027	a0027c0018 a0027c0018	a0027c0018t0001 a0027c0018t0001	a0027c0018t0001g0156 a0027c0018t0001g0156	1	184	0.0054	402	c.450 others(419): Show c.450+1970_450+1971insCCCACCCACCTACCTATCCTTCTACCCA CCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATTCCTC CACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTA TCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCACCCACCCA CCTATCCTATCCCATCCCGCTGCCTGCTGACCCATCCACCCCCCTACCTA TGCACCCACCCCACCCCCTCCCTA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(395): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCC CACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCAC ACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	166	0.0060	402	c.66 others(413): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT CTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACAC AGCCCACACCCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(395): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGG AGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGG GTGCAGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG TGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	98	0.0102	402	c.717 others(419): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGATGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGCG GGTGCGGGTGCAGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(395): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTG CTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG02622.hp2 others(10): Show HG01358.hp1 HG02109.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp1 NA18972.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0001c0001t0001 a0001c0001t0004 a0003c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0281 a0001c0001t0001g0285 others(10): Show a0001c0001t0001g0016 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0004g0009 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0334 a0003c0005t0001g0284 a0003c0005t0001g0312 a0003c0005t0001g0337	13	66	0.1970	402	c.116 others(417): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTG CAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAG TAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCT GACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(395): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTG CTA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	54	0.0185	402	c.116 others(417): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTG CAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAG TAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCT GACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LMF1_chr16_848634_975984	953921	A A	AACCAGCC others(395): Show AACCAGCCTCCTACACGTTCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTTCACACAGACACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT ACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTGCACGTCCACACAGACACCCACCC CAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0039 a0001c0013t0001g0039	1	237	0.0042	402	c.503 others(417): Show c.503+435_503+436insGTGGGGTGGGTGTCTGTGTGGACGTGCAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGAACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGAACGTGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTG TGTGAACGTGTAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(395): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTACTACATA CCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTAC TACATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCACTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0268 a0001c0007t0001g0268	1	6	0.1667	402	c.368 others(419): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTAT GTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCC GGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MALRD1_chr10_19043801_19739478	19238068	T T	TAATTATC others(395): Show TAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATTTTATA TGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTA TATGTAGTTATATATAATTATATATAATGATATATAATTTATATACTTAT AAATATGTAATTATATATGTTATAATTATAAATATATATAATATAAATAT ACAATACATTTTATATAATATATAATATATAGTATAATACAAAATATACA TTATAATATATTATAATATATAATATATAATACATATATTATATAAAAAT ACTATAATATATAATAATATATATTATAATATATATAATATATAATAATA TATTATAATATATATTATAATATAGTATAATATATATATTATAATTTATA CTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp1 others(19): Show HG00558.hp1 HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01884.hp2 HG02055.hp2 HG02074.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp2 NA18964.hp1 NA19043.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0008 a0012 a0017 a0021 a0027 a0036 a0038 a0043 a0045 a0057 a0058 a0064 a0069 a0073	a0001c0009 a0001c0013 a0001c0105 others(17): Show a0001c0009 a0001c0013 a0001c0105 a0002c0004 a0003c0001 a0003c0024 a0008c0006 a0012c0017 a0017c0038 a0021c0014 a0027c0037 a0036c0049 a0038c0051 a0043c0022 a0045c0021 a0057c0035 a0058c0050 a0064c0071 a0069c0061 a0073c0113	a0001c0009t0001 a0001c0013t0002 a0001c0105t0002 others(17): Show a0001c0009t0001 a0001c0013t0002 a0001c0105t0002 a0002c0004t0001 a0003c0001t0001 a0003c0024t0001 a0008c0006t0001 a0012c0017t0002 a0017c0038t0001 a0021c0014t0001 a0027c0037t0001 a0036c0049t0001 a0038c0051t0002 a0043c0022t0002 a0045c0021t0002 a0057c0035t0001 a0058c0050t0002 a0064c0071t0001 a0069c0061t0001 a0073c0113t0002	a0001c0009t0001g0061 a0001c0013t0002g0073 a0001c0105t0002g0090 others(19): Show a0001c0009t0001g0061 a0001c0013t0002g0073 a0001c0105t0002g0090 a0002c0004t0001g0057 a0002c0004t0001g0129 a0003c0001t0001g0102 a0003c0024t0001g0095 a0008c0006t0001g0094 a0012c0017t0002g0071 a0012c0017t0002g0072 a0017c0038t0001g0120 a0021c0014t0001g0096 a0027c0037t0001g0121 a0036c0049t0001g0022 a0038c0051t0002g0065 a0043c0022t0002g0093 a0045c0021t0002g0092 a0057c0035t0001g0126 a0058c0050t0002g0019 a0064c0071t0001g0139 a0069c0061t0001g0152 a0073c0113t0002g0078	22	142	0.1549	402	c.299 others(423): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTT TTACATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATATAT AATGATATATAATTTATATACTTATAAATATGTAATTATATATGTTATAA TTATAAATATATATAATATAAATATACAATACATTTTATATAATATATAA TATATAGTATAATACAAAATATACATTATAATATATTATAATATATAATA TATAATACATATATTATATAAAAATACTATAATATATAATAATATATATT ATAATATATATAATATATAATAATATATTATAATATATATTATAATATAG TATAATATATATATTATAATTTATACTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238068	T T	TAATTATC others(395): Show TAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATTTTATA TGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTATAACTA TATGTAGTTATATATAATTATATATAATTATATATAATTTATATACTTAT AAATATGTAATTATATATGTTATAATTATAAATATATATAATATAAATAT ACAATACATTTTATATAATATATAATATATAGTATAATACAAAATATACA TTATAATATATTATAATATATAATATATAATACATATATTATATAAAAAT ACTATAATATATAATAATATATATTATAATATATATAATATATAATAATA TATTATAATATATATTATAATATAGTATAATATATATATTATAATTTATA CTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03139.hp1 HG03453.hp2 others(1): Show HG00642.hp1 HG03139.hp1 HG03453.hp2 HG06807.hp2	a0026 a0065 a0067 others(1): Show a0026 a0065 a0067 a0077	a0026c0082 a0065c0081 a0067c0080 others(1): Show a0026c0082 a0065c0081 a0067c0080 a0077c0083	a0026c0082t0001 a0065c0081t0001 a0067c0080t0001 others(1): Show a0026c0082t0001 a0065c0081t0001 a0067c0080t0001 a0077c0083t0002	a0026c0082t0001g0052 a0065c0081t0001g0044 a0067c0080t0001g0043 others(1): Show a0026c0082t0001g0052 a0065c0081t0001g0044 a0067c0080t0001g0043 a0077c0083t0002g0074	4	124	0.0323	402	c.299 others(423): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATATGTAATTTTATATGGTTATATATAATTATACGTAGTT TTACATAGTTATATAGTTATAACTATATGTAGTTATATATAATTATATAT AATTATATATAATTTATATACTTATAAATATGTAATTATATATGTTATAA TTATAAATATATATAATATAAATATACAATACATTTTATATAATATATAA TATATAGTATAATACAAAATATACATTATAATATATTATAATATATAATA TATAATACATATATTATATAAAAATACTATAATATATAATAATATATATT ATAATATATATAATATATAATAATATATTATAATATATATTATAATATAG TATAATATATATATTATAATTTATACTA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579289	T T	TCACCACC others(395): Show TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAT CAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	266	0.0038	402	c.391 others(417): Show c.391+802_391+803insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(395): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATATATATTCATATATATA TTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	109	0.0092	402	c.343 others(419): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATCTATATATGAATATATATGAATCTATATATGA ATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735548	A A	AAAAAAAA others(395): Show AAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTT GGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATG ATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAA AATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCA AGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAG CCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCAT CTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	2	388	0.0052	402	c.112 others(419): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237544278	G G	GAGTGGGG others(395): Show GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTG GCA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	279	0.0036	402	c.153 others(421): Show c.1539+1625_1539+1626insGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGGACAGTGGCAAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499927	T T	TGGTGGTG others(395): Show TGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGT GATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGG AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	248	0.0040	402	c.748 others(419): Show c.748+1578_748+1579insGTGGTGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTA GTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGT GATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735548	A A	AAAAAAAA others(395): Show AAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTT GGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATG ATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAA AATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCA AGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAG CCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCAT CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	362	0.0055	402	c.18 others(413): Show c.1849_*1850insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1754		chr1	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(395): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACCGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	116	0.0086	402	c.58 others(413): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCC TCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(395): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	118	0.0085	402	c.-75 others(421): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATACA TACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGC TGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(395): Show GGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0151 a0001c0007t0005g0151	1	302	0.0033	402	c.140 others(419): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGATCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(395): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCCTTCCCCTCCCCTCCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	206	0.0049	402	c.433 others(419): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGGAGGGG AGGGGAAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAG GGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATATAA others(395): Show CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAA CTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0033 a0001c0010t0022 a0001c0010t0033	a0001c0010t0022g0258 a0001c0010t0033g0259 a0001c0010t0022g0258 a0001c0010t0033g0259	2	328	0.0061	402	c.489 others(419): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(395): Show CGGGGTTTCTCCAATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTG ATCCGCCTGCCTCGGCCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCA CCGTGCCCGGCTAATTTTGTATTTTAGTAGAGATGGGGGTTTCTCCATGT TGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCC TCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTTCTCCATGTTGGCCAGGCTGGTCT CGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAG ATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0147 a0004c0009t0002g0147	1	157	0.0064	402	c.-48 others(413): Show c.-4847_-4846insCATCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAGAAACC CCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCT GTAATCCCAGCACTTTGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCATCTCTACTAAAATA CAAAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGG AGGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGC CAACATTGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(395): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATACACATATATATGTGTGCATATATACATATATGTGTGCATATATAT ACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0090 a0001c0002t0006g0090	1	40	0.0250	402	c.196 others(423): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATACACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(395): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATACACATATATATGTGTGCATATATACATATATGTGTGCATATATAT ACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0004 a0005c0026t0004	a0005c0026t0004g0015 a0005c0026t0004g0015	1	40	0.0250	402	c.196 others(423): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATACACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGTGCATATATATACATATATGTGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(395): Show GTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCA TCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0215 a0001c0002t0005g0215	1	248	0.0040	402	c.269 others(421): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTG ACGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318063	T T	TGCACCTC others(395): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGC ACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCC CTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCT CCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0284 a0002c0003t0001g0284	1	349	0.0029	402	c.35 others(413): Show c.3548_*3549insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCA CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCC ACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACC TCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCC CAGCCTCCACCTCCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3090		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(395): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	282	0.0035	402	c.143 others(417): Show c.143-267_143-266insCTGGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976811	C C	CAACCCCG others(395): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCGGGAACCGCCTCCCACTCCCCCCCGCAACC CCGGGAAACCGCCTCCCACTCCCCCGCCAACCCCGGGAACCGCCTCCCAC TCCCCCACCAACCCCGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCACCCGGGAACCGC CTCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	393	0.0025	402	c.215 others(419): Show c.2150-188_2150-187insCGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGCGGGGAGGCGGTTCCCGGGTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCGGGGTTGGTGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGC GGGGGAGTGGGAGGCGGTTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGG TTCCCGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGG GAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGAAGAGGGAGGGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGGAGGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG GAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAAGAGGGGAAGGGGAGTGG GGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGAGAGGAGGGAAGGGGGAAGAGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	29	0.0345	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGAAGAGGGAGGGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAGGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAAGA GGGGAAGGGGAGTGGGGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGAGAGGAGGGAAGGGGGA AGAGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	29	0.0345	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAG GGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	29	0.0345	402	c.53 others(413): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PINX1_chr8_10759961_10844875	10805657	T T	TGGGTGAC others(395): Show TGGGTGACGGAGCACAGGAAGGGGCCACACTAGCGCTGAGTGGGTGACGG AGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGGCAGAGCACAGGAA GAAGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACAC TAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAG GGAGGAGGCAGAGCACAGGAAGAAGCCACACTAGTGCTGAGTGGGTGACG GAGCACAGGAAGGGGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGTCACACTAGTGCTG AGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	346	0.0029	402	c.471 others(421): Show c.471+14535_471+14536insCCTCAGCACTAGTGTGACCCCTTCCT GTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTC ACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGCCTCCTCCCTCA GCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAGCACTAGTGT GGCTTCTTCCTGTGCTCTGCCTCCTCCCTCAGCACTAGTGTGGCCCCTTC CTGTGCTCCGTCACCCACTCAGCGCTAGTGTGGCCCCTTCCTGTGCTCCG TCACCCCCTCAGCACTAGTGTGGCTTCTTCCTGTGCTCTGCCACCCCCTC AGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAGCGCTAGTG TGGCCCCTTCCTGTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10805857	T T	TGGGTGAC others(395): Show TGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGAGGAGGCA GAGCACAGGAAGAAGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGGA AGGGGCCACACTAGTGCTGAGGGAGGAGGCAGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGGGGGTGACGGAGCACAGGAAGGGGTCACACTAGTGCTGAGGGGGTGAC GGAGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	257	0.0039	402	c.471 others(421): Show c.471+14335_471+14336insCCTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCCACTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTC ACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCAG CACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCCCTCAGCACTAGTGTG ACCCCTTCCTGTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCTGCC TCCTCCCTCAGCACTAGTGTGGCCCCTTCCTGTGCTCCGTCACCCACTCA GCACTAGTGTGGCTTCTTCCTGTGCTCTGCCTCCTCCCTCAGCACTAGTG TGGCCCCTTCCTGTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3649553	A A	ACCCGGCA others(395): Show ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGT CAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0287 a0001c0002t0003g0287	1	330	0.0030	402	c.112 others(419): Show c.1128-846_1128-845insGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAG GGGACGTGTGGGCACGGTGCCGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(395): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAG GGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0103 a0001c0006t0006g0103	1	18	0.0556	402	c.262 others(417): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCCTCCCCTCCCTTCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCT TCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(395): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA CCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	58	0.0172	402	c.173 others(419): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(395): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAG GCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGAGGAGGGGAG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGG GGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGA AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0036 a0001c0001t0064g0036	1	132	0.0076	402	c.-86 others(411): Show c.-862_-861insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGG GGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTG CAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		536		chrX	TogoVar
PLCXD1_chrX_276381_308356	280975	G G	GGAAGGGA others(395): Show GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAG ACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGG GGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGG GGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGG GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0082 a0001c0001t0081 a0001c0001t0082	a0001c0001t0081g0061 a0001c0001t0082g0060 a0001c0001t0081g0061 a0001c0001t0082g0060	2	166	0.0120	402	c.-73 others(411): Show c.-731_-730insGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGG GGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGG GGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGG GGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTG CAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGCA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		405		chrX	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	20	0.0500	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCT TGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTGTTGCCAGGCTTGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0050 a0001c0006t0007g0050	1	20	0.0500	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGC TTGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	20	0.0500	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(395): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTT GTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCT AGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAG CCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATAT TAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	20	0.0500	402	c.479 others(421): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGT GATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG CTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGC TGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGT GTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTA TATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03041.hp2 HG01346.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	150	0.0133	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGAGGGA GGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(395): Show CTCACCCCCTCCTTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCAT CCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	150	0.0133	402	c.-58 others(417): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGT GAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGG GAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG TGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG TGAAGGATGAAGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CCGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG03579.hp2 HG01109.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0016 a0001c0007t0016 a0001c0001t0016 a0001c0007t0016	a0001c0001t0016g0296 a0001c0001t0016g0298 a0001c0007t0016g0299 a0001c0001t0016g0296 a0001c0001t0016g0298 a0001c0007t0016g0299	3	161	0.0186	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCGGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(395): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC TCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGT CCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0004c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0003t0037 a0002c0004t0007 a0004c0008t0002	a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0190 others(113): Show a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0004g0064 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0007g0177 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0008g0206 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0008g0226 a0001c0001t0008g0240 a0001c0001t0008g0257 a0001c0001t0009g0218 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0241 a0001c0001t0012g0197 a0001c0001t0012g0275 a0001c0001t0012g0276 a0001c0001t0012g0277 a0001c0001t0012g0278 a0001c0001t0013g0210 a0001c0001t0013g0212 a0001c0001t0013g0238 a0001c0001t0014g0188 a0001c0001t0014g0189 a0001c0001t0014g0224 a0001c0001t0015g0204 a0001c0001t0032g0195 a0001c0001t0033g0254 a0001c0001t0034g0192 a0001c0001t0038g0244 a0001c0001t0039g0261 a0001c0001t0041g0291 a0001c0001t0045g0274 a0001c0001t0046g0323 a0001c0001t0047g0324 a0001c0001t0048g0325 a0001c0001t0049g0326 a0001c0003t0037g0176 a0002c0004t0007g0179 a0004c0008t0002g0248	116	274	0.4234	402	c.106 others(421): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar

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