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
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(178): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	185	c.40 others(196): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAA G	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAPK11_chr22_50258713_50275380	50274790	C C	CCCCCAGC others(178): Show CCCCCAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTATCCCTCCCAGCCCCCT CCACCTCCCAGCACCACCCCCAGCCCCCCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	428	0.0023	185	c.-44 others(196): Show c.-4499_-4498insAGGTGGAGGGGGGCTGGGGGTGGTGCTGGGAGGT GGAGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCTGGGAGGGGT GCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGGG G	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4411		chr22	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(178): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATTATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01255.hp1 others(4): Show HG00733.hp1 HG01070.hp1 HG01255.hp1 HG01261.hp2 HG03239.hp2 HG03654.hp2 NA18998.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0017 a0002c0004t0001g0045 a0002c0004t0001g0005 a0002c0004t0001g0017 a0002c0004t0001g0045	7	288	0.0243	185	c.-31 others(196): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATAATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(178): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATTATATAATTATATAATATATA ATTTATATATTATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	185	c.-31 others(196): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATAATATATAA ATTATATATTATATAATTATATAATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(178): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG00673.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0057 a0001c0001t0001g0118	2	181	0.0111	185	c.107 others(204): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237543613	G G	GGGCACGG others(178): Show GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAG TGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0182 a0004c0005t0002g0182	1	286	0.0035	185	c.153 others(202): Show c.1539+956_1539+957insCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGG TGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144203083	G G	GGCGGGGG others(178): Show GGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCCCGC TGTCTGTGGAGGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGC GGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCC GCTGTCTGTGGAGGGGCGGGGGAGCGCCCGCTGTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0023 a0002c0004t0001g0023	1	140	0.0071	185	c.114 others(204): Show c.1141+2543_1141+2544insCGGGGGGGGGGAGCGCCCGCTGTCTG TGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGCGGGGGGGGGGAG CGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGG AGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGAGCGCC CGCTGTCTG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203083	G G	GGCGGGGG others(178): Show GGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCCCG CTGTCTGTGGAGGGGGCGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCG GGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCC GCTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	140	0.0071	185	c.114 others(204): Show c.1141+2543_1141+2544insCGGGGGGGGGGAGCGCCCGCTGTCTG TGGAGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGCGGGGGGGGAGC GCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAAGCGCCCGCTGTCTGTGG AGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCC CGCTGTCTG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSLN_chr16_755734_773862	767865	G G	GGGGGCAC others(178): Show GGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	388	0.0052	185	c.159 others(202): Show c.1596+396_1596+397insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACG TGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCGGC others(178): Show GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCGGCCCCCACCCCCGGCCCCGGCCCCACCCCGGCCCCGGCCC CACCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0040 a0040	a0040c0035 a0040c0035	a0040c0035t0003 a0040c0035t0003	a0040c0035t0003g0271 a0040c0035t0003g0271	1	388	0.0026	185	c.43 others(194): Show c.431_*432insCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCGGCCCCCACCCCCGGCCCCGGCCCCACC CCGGCCCCGGCCCCACCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCG GCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAAAG others(178): Show AAGAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	294	0.0034	185	c.677 others(200): Show c.677+224_677+225insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(178): Show TATATTAATATTATATATATTATATATATTATATATATTATATAATATAT ATTATATATAATATATATTATATTATATATTATATTATATATATAATATA TATAATATAATATATAATATAATATATATTATATATAATATATATTATAT TATATATTATATTATATATATTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG03471.hp1 others(1): Show HG02809.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023	a0001c0001t0002g0168 a0001c0001t0003g0173 a0001c0001t0006g0172 others(1): Show a0001c0001t0002g0168 a0001c0001t0003g0173 a0001c0001t0006g0172 a0001c0001t0023g0174	4	326	0.0123	185	c.80- others(200): Show c.80-1582_80-1581insTAATATTATATATATTATATATATTATATA TATTATATAATATATATTATATATAATATATATTATATTATATATTATAT TATATATATAATATATATAATATAATATATAATATAATATATATTATATA TAATATATATTATATTATATATTATATTATATATATTATATATATAATAT AATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(178): Show GTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTG CTGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	384	0.0026	185	c.160 others(202): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYNN_chr3_169768396_169794716	169771080	A A	ATATAAAA others(178): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATGTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	350	0.0029	185	c.-24 others(196): Show c.-2414_-2413insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATGTTTATATA T	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2315		chr3	TogoVar
MYT1_chr20_64159452_64247253	64212162	A A	AGTGGGGG others(178): Show AGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTG GTGGGGGGCCAGGGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTG GTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0028	1	223	0.0045	185	c.151 others(200): Show c.1517+55_1517+56insGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCGTGGTGGGGGGCCGTGGTGGGGGCCGTGGTGGGGGGCCAG GGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCGTGGTGGGGGCCGTGG TGGGGGCCGTGGTGGGGGGCCAGGGTGGGGGCCAGGGTGGGGGCCGTGGT GGGGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(178): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0112 a0001c0001t0030g0112	1	132	0.0076	185	c.738 others(202): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGAGAGAGAG AGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCGCCT others(178): Show GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCT ACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	378	0.0027	185	c.148 others(204): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGG GCCACAGGGTAGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGG GCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGG TAAGGCGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(178): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0055 a0002c0004t0003g0055	1	384	0.0026	185	c.-41 others(196): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC T	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCKAP1_chr2_182904115_183043457	182984423	G G	GGTGTGTG others(178): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTTGCCTATGCCAAAAACCCAAGTATAAAGAATAC ACACCACTAGTAATTTCGCTGTGACACAGTAGATCAGTTTCAGAGGACTC AAATTAAAATCCATCCTCTCCCTACATGACCTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0012 a0001c0002t0041g0012	1	218	0.0046	185	c.100 others(204): Show c.1005-1042_1005-1041insACACAGGTCATGTAGGGAGAGGATGG ATTTTAATTTGAGTCCTCTGAAACTGATCTACTGTGTCACAGCGAAATTA CTAGTGGTGTGTATTCTTTATACTTGGGTTTTTGGCATAGGCAACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACAC	NCKAP1	ENSG00000061676.16	transcript	ENST00000361354.9	protein_coding	10/30			chr2	TogoVar
NME8_chr7_37843597_37905397	37848116	G G	GGAAGAAG others(178): Show GGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAAGAAGAAGAA GAGGAAGAGGAAGAGGAAGAAGAAGAAGAAAAGAAGAGGAAGAGGAAGAA GAAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGGAA GAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02809.hp2 HG02965.hp1 others(3): Show HG00733.hp2 HG02809.hp2 HG02965.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0010 a0003c0015 a0003c0003 a0003c0010 a0003c0015	a0003c0003t0002 a0003c0010t0002 a0003c0015t0002 a0003c0003t0002 a0003c0010t0002 a0003c0015t0002	a0003c0003t0002g0324 a0003c0003t0002g0325 a0003c0003t0002g0326 others(3): Show a0003c0003t0002g0324 a0003c0003t0002g0325 a0003c0003t0002g0326 a0003c0003t0002g0329 a0003c0010t0002g0328 a0003c0015t0002g0351	6	388	0.0155	185	c.-85 others(194): Show c.-853_-852insGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAAAGAAGA GGAAGAGGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAA GAAGAAGAAGGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		480		chr7	TogoVar
NPIPB4_chr16_21829582_21862756	21850494	C C	CAAAAAAT others(178): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0071 a0071	a0071c0028 a0071c0028	a0071c0028t0001 a0071c0028t0001	a0071c0028t0001g0068 a0071c0028t0001g0068	1	204	0.0049	185	c.121 others(202): Show c.121-2954_121-2953insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAC CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTT	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7			chr16	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(178): Show AAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0107 a0001c0003t0004g0107	1	208	0.0048	185	c.-10 others(206): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCT TTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NTM_chr11_131365615_132341822	131789420	A A	AAAGAAAG others(178): Show AAAGAAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA AAGAAGAAGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	86	0.0116	185	c.83- others(204): Show c.83-122139_83-122138insAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAAAGAAGAAGAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755461	C C	CATCCTCC others(178): Show CATCCTCCCTCCCTCCCTCCATCCATCCTCCCTCCCTCTCTCCATCCCTC ATTCCATCCCTCCCCGATCCATCCCTCATTCCATCCCTCCCTCTCTCCCT CCCTCCATTCATCCATCCATTGTCCCTCCCTCCCTCCATCCATCCTCCCT CCTCTCTCCCTCCCTCCATCCTCCCTCCCTCCATCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01070.hp2 others(57): Show HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19079.hp1 NA19086.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0013	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005 a0002c0010 a0003c0004 a0004c0006 a0011c0017 a0013c0016	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(28): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0004 a0001c0002t0007 a0001c0002t0028 a0001c0002t0042 a0001c0008t0025 a0002c0005t0010 a0002c0005t0029 a0002c0005t0057 a0002c0010t0004 a0003c0004t0008 a0003c0004t0018 a0003c0004t0041 a0004c0006t0008 a0004c0006t0013 a0011c0017t0001 a0013c0016t0043	a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0004g0018 others(55): Show a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0031 a0001c0001t0004g0158 a0001c0001t0004g0168 a0001c0001t0004g0225 a0001c0001t0004g0268 a0001c0001t0008g0167 a0001c0001t0008g0292 a0001c0001t0008g0296 a0001c0001t0015g0179 a0001c0001t0015g0289 a0001c0001t0015g0290 a0001c0001t0018g0204 a0001c0001t0019g0222 a0001c0001t0019g0298 a0001c0001t0021g0079 a0001c0001t0024g0280 a0001c0001t0027g0135 a0001c0001t0033g0004 a0001c0001t0034g0171 a0001c0001t0035g0214 a0001c0001t0045g0291 a0001c0001t0048g0213 a0001c0001t0049g0052 a0001c0001t0050g0128 a0001c0002t0004g0127 a0001c0002t0007g0035 a0001c0002t0007g0068 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0131 a0001c0002t0007g0184 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0189 a0001c0002t0007g0190 a0001c0002t0028g0134 a0001c0002t0042g0089 a0001c0008t0025g0152 a0002c0005t0010g0019 a0002c0005t0010g0020 a0002c0005t0010g0148 a0002c0005t0010g0227 a0002c0005t0029g0228 a0002c0005t0057g0147 a0002c0010t0004g0254 a0003c0004t0008g0003 a0003c0004t0008g0217 a0003c0004t0018g0263 a0003c0004t0041g0081 a0004c0006t0008g0080 a0004c0006t0013g0271 a0004c0006t0013g0294 a0004c0006t0013g0295 a0011c0017t0001g0085 a0013c0016t0043g0022	60	316	0.1899	185	c.916 others(200): Show c.916+575_916+576insATCCTCCCTCCCTCCCTCCATCCATCCTCC CTCCCTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTC CATCCCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCTCCCT CCCTCCATCCATCCTCCCTCCTCTCTCCCTCCCTCCATCCTCCCTCCCTC CATCG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3			chr20	TogoVar
NXN_chr17_794310_984776	891759	T T	TAAGCTAA others(178): Show TAAGCTAACCCCACCATGCACAGCCCATCAGGGAACCCAAGCTAACCCCA CCATGCACAACCCAACAGGGAACCTAAACTAACCCCACCATGCACAATCC AACAGGGAACCTAAGCTAACCCCACCATGCACAACCCAACAGGGAACCTA AGCTAACCCCACCATGCACAGCCCATCAGGGAACCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0230 a0001c0001t0001g0077 a0001c0001t0001g0230	2	242	0.0083	185	c.361 others(204): Show c.361-65682_361-65681insGGGTTCCCTGATGGGCTGTGCATGGT GGGGTTAGCTTAGGTTCCCTGTTGGGTTGTGCATGGTGGGGTTAGCTTAG GTTCCCTGTTGGATTGTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGG TTGTGCATGGTGGGGTTAGCTTGGGTTCCCTGATGGGCTGTGCATGGTGG GGTTAGCTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948901	T T	TCCTCCTC others(178): Show TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	242	0.0041	185	c.360 others(204): Show c.360+30417_360+30418insCACGGGGAGAGGAGGAGGCCACGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237659	A A	ATAGTATA others(178): Show ATAGTATATAGTATATATAGTATATATAGGATATATAGGATATATATAAT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTAT ATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTAT ATATACTCTATAGTATATATAGTATATATACTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	439	0.0023	185	c.-16 others(196): Show c.-1684_-1683insTAGTATATAGTATATATAGTATATATAGGATATA TAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATA TATACTCTATAGTATATATACTCTATAGTATATATAGTATATATACTCTA T	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1626		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237780	T T	TAGTATAT others(178): Show TAGTATATATAGTATATAGACATATAGTATATATAGTATATATAGTATAT AGTATATATTTTATAGTATATATAGTATATATAGTATATAGTATATATTT TATAGTATATATAGTATATATACTATATAGTATATATTATAGTATATATA CTATAAAGTACATAATTTATATATTACATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	439	0.0023	185	c.-15 others(196): Show c.-1563_-1562insAGTATATATAGTATATAGACATATAGTATATATA GTATATATAGTATATAGTATATATTTTATAGTATATATAGTATATATAGT ATATAGTATATATTTTATAGTATATATAGTATATATACTATATAGTATAT ATTATAGTATATATACTATAAAGTACATAATTTATATATTACATATAATA C	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1505		chr14	TogoVar
OR52N2_chr11_5803924_5826483	5812330	T T	TAAAAATA others(178): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 HG02965.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0029 a0004c0005t0006g0029	2	402	0.0050	185	c.-55 others(202): Show c.-55+3281_-55+3282insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAA	OR52N2	ENSG00000180988.3	transcript	ENST00000317037.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(178): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGAGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGGAGGGGGGGAGAGAGAGACGGGG GGAGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0014 a0003c0010t0004g0014	1	186	0.0054	185	c.537 others(204): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTCCCCTTTACTCCC TCTCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCC TCCCCCCTCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCC TTGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(178): Show GGAGAGACGAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGAGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGGAGAGAGAGACGGGG GGAGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0108 a0002c0005t0002g0108	1	186	0.0054	185	c.537 others(204): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCCTCCCTCCCCTTTACTCCC TCTCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCC TCCCCCCTCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCC TCGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
PAPPA_chr9_116148791_116407321	116289236	T T	TATATATG others(178): Show TATATATGCCATATATATAGCATATATATGCCATATATATGCCATATATA TGGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGCCATATATATAGCATATATATGGCATATATATGGCATATATAT AGCATATATATGGCATATATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0006 a0002c0010t0006	a0002c0010t0006g0051 a0002c0010t0006g0051	1	234	0.0043	185	c.295 others(206): Show c.2954-13515_2954-13514insGCCATATATATAGCATATATATGC CATATATATGCCATATATATGGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGC ATATATATGGCATATATATAGCATATATATGGCATATATATGGCATATAT ATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289260	T T	TATATATG others(178): Show TATATATGCCATATATATAGCATATATATGGCATATATATGCCATATATA TAGCATATATATGGCATATATATGCCATATATATAGCATATATATGGCAT ATATATGGCATATATATAGCATATATATGGCATATATATGGCATATATAT GCCATATATATAGCATATATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19091.hp2 HG02056.hp1 NA19091.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0011 a0002c0010t0005 a0002c0010t0011	a0002c0010t0005g0135 a0002c0010t0011g0150 a0002c0010t0005g0135 a0002c0010t0011g0150	2	234	0.0086	185	c.295 others(206): Show c.2954-13491_2954-13490insGCCATATATATAGCATATATATGG CATATATATGCCATATATATAGCATATATATGGCATATATATGCCATATA TATAGCATATATATGGCATATATATGGCATATATATAGCATATATATGGC ATATATATGGCATATATATGCCATATATATAGCATATATATGGCATATAT ATGCCATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARP16_chr15_65253099_65291883	65269195	T T	TCTTTTCC others(178): Show TCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	316	0.0032	185	c.312 others(202): Show c.312+1739_312+1740insGAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAAG	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARVB_chr22_44019302_44177939	44113970	C C	CTAAGGCC others(178): Show CTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCA CCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAAATAC GTTCTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACT AAGGCCCTGTACCAACACAGATACGTTGTTACTAAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	332	0.0030	185	c.274 others(202): Show c.274-5032_274-5031insGTAAGGCCCTGCACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAACACAAATACGTTCTTACTAAGTAA GGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGTACCAA CACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTG TTACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCDH19_chrX_100286644_100415273	100388273	A A	CTATATAT others(178): Show CTATATATTTATATATTGTATTATAGTTAAACAATTGGAATAATATATGC ATACATTAAACTGGAATTAATCTATGTGTGTTATTTTCTGATTTTTTCAA TTAATGTATATTATACCATATTTTCATGTGTAATTATTTATATATTGTAT TATATATTTATATATAATTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	281	0.0036	185	c.261 others(200): Show c.2616+14251delTinsAATATATATAAATATATAATTATATATAAAT ATATAATACAATATATAAATAATTACACATGAAAATATGGTATAATATAC ATTAATTGAAAAAATCAGAAAATAACACACATAGATTAATTCCAGTTTAA TGTATGCATATATTATTCCAATTGTTTAACTATAATACAATATATAAATA TATAG	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	3/5			chrX	TogoVar
PDE9A_chr21_42648621_42780509	42690142	G G	GTAGACGC others(178): Show GTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTG AGGATACAGGTGGAGAAGATGGAGGTAGACACGGATGAGGATACAGGTGG AGAAGATGGGGTTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGT AGACGCGGATGAGGATACAGGTGGAGAAGATGGGGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	324	0.0031	185	c.218 others(202): Show c.218+2194_218+2195insGTGAGGATACAGGTGGAGAAGATGGAGG TAGACACGGATGAGGATACAGGTGGAGAAGATGGGGTTAGACGCGGATGA GGATACAGGTGGAGAAGATGGAGGTAGACGCGGATGAGGATACAGGTGGA GAAGATGGGGTTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTA GACGCGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42690142	G G	GTAGACGC others(178): Show GTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTAGACGCGGGTG AGGATACAGGTGGAGAAGATGGAGGTAGACGCGGATGAGGATACAGGTGG AGAAGATGGGGTTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGT AGACGCGGATGAGGATACAGGTGGAGAAGATGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(66): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01071.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02735.hp1 HG03139.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0003c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0075 others(66): Show a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0102 a0001c0001t0002g0298 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0006g0299 a0001c0002t0001g0034 a0001c0002t0001g0039 a0001c0002t0001g0074 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0003g0006 a0001c0003t0001g0012 a0001c0003t0001g0040 a0001c0003t0001g0072 a0001c0003t0001g0089 a0001c0003t0001g0186 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0266 a0001c0003t0001g0283 a0001c0003t0001g0319 a0001c0004t0001g0053 a0001c0004t0001g0159 a0003c0008t0001g0273	69	324	0.2130	185	c.218 others(202): Show c.218+2194_218+2195insGTGAGGATACAGGTGGAGAAGATGGAGG TAGACGCGGATGAGGATACAGGTGGAGAAGATGGGGTTAGACGCGGATGA GGATACAGGTGGAGAAGATGGAGGTAGACGCGGATGAGGATACAGGTGGA GAAGATGGGGTTAGACGCGGATGAGGATACAGGTGGAGAAGATGGAGGTA GACGCGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(178): Show CAAAGAAAGAAGGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	342	0.0029	185	c.20- others(200): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTT TCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(178): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02572.hp2 HG03017.hp1 others(1): Show HG00733.hp1 HG02572.hp2 HG03017.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0194 others(1): Show a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0275	4	410	0.0098	185	c.980 others(200): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CCAACCCC others(178): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	408	0.0025	185	c.215 others(202): Show c.2150-821_2150-820insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCC GGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(178): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02165.hp1 others(1): Show HG00673.hp1 HG02040.hp1 HG02165.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0155 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0174	4	408	0.0098	185	c.215 others(202): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCC GGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(178): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTGC CCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCC CTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCC CTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02145.hp1 HG02723.hp1 others(1): Show HG01074.hp1 HG02145.hp1 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0004 a0001c0011t0004 a0001c0011t0018 a0001c0003t0004 a0001c0011t0004 a0001c0011t0018	a0001c0003t0004g0195 a0001c0011t0004g0196 a0001c0011t0004g0391 others(1): Show a0001c0003t0004g0195 a0001c0011t0004g0196 a0001c0011t0004g0391 a0001c0011t0018g0161	4	402	0.0100	185	c.775 others(200): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCC CTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGC CCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGC CCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718391	G G	GGTCCTGG others(178): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	394	0.0025	185	c.719 others(200): Show c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG GGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG TGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTG TCCTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIAS4_chr19_4002736_4044386	4011721	G G	GTGTGGGG others(178): Show GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0289 a0003c0011t0001g0289	1	334	0.0030	185	c.28- others(200): Show c.28-1149_28-1148insAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011922	T T	TGTGTGGG others(178): Show TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01168.hp2 others(12): Show HG00280.hp1 HG00741.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0005t0005 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0005t0005 a0001c0005t0007	a0001c0003t0001g0277 a0001c0003t0002g0021 a0001c0003t0002g0266 others(11): Show a0001c0003t0001g0277 a0001c0003t0002g0021 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0005t0005g0274 a0001c0005t0007g0278	15	334	0.0449	185	c.28- others(198): Show c.28-844_28-843insGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011939	T T	TGTGTGGG others(178): Show TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0020 a0001c0003t0002g0020	2	334	0.0060	185	c.28- others(198): Show c.28-844_28-843insGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PITPNM3_chr17_6446263_6561555	6561306	T T	TCATTCTC others(178): Show TCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCCTTTTCTCCTCC TTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTC CTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTC CGCCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0006 a0002c0010t0006	a0002c0010t0006g0113 a0002c0010t0006g0113	1	218	0.0046	185	c.-49 others(196): Show c.-4901_-4900insGGGAAGGAGGATGAGGAGAAGGAGGAAGAGGGGG CGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAAAAGGAGGGG AGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAAAAGGAGAAG AAGGAGGAGAAAAGGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAAT G	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4752		chr17	TogoVar
PKN2_chr1_88679273_88841255	88781400	T T	TGAAATAC others(178): Show TGAAATACTGAATTACAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0038 a0001c0004t0025g0038	1	330	0.0030	185	c.986 others(202): Show c.986-3225_986-3224insCAGCTACTCGGGAGGCTGAGGCGGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAC TGAATTA	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401214	C C	CCCCGCTC others(178): Show CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	216	0.0046	185	c.173 others(202): Show c.1737+527_1737+528insGCTCACACCCGCCCCGCTCACCCCCGGC CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCC CCGGCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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