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
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(459): Show ATATTTATACACAGTTGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0281 a0003c0004t0004g0281	1	382	0.0026	466	c.839 others(483): Show c.839-2098_839-2097insTATTTATACACAGTTGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATCTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(459): Show ATATTTATACACAGTTGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0093 a0003c0004t0014g0093	1	382	0.0026	466	c.839 others(483): Show c.839-2098_839-2097insTATTTATACACAGTTGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(459): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATA TATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	191	0.0052	466	c.343 others(483): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(459): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG GAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	466	c.26 others(477): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGT GCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(459): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGA GGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGG GAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAG GAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGG GAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAG GGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAG GAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19088.hp1 NA18983.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0119 a0001c0002t0001g0120 a0001c0001t0001g0119 a0001c0002t0001g0120	2	280	0.0071	466	c.641 others(481): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(459): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0070 a0006c0006t0001g0076 a0006c0006t0001g0070 a0006c0006t0001g0076	2	364	0.0055	466	c.394 others(481): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATATTCATATATATATGTTCATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATTCATATATATGTTCATATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGAAGG others(459): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGG AGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	230	0.0044	466	c.163 others(483): Show c.1635-916_1635-915insAAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTG AGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAG GGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGG GAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGG AGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGA GGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(459): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCC CTCCCCTTCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCTCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCT CCCCTTCCTCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTCCCTC CCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTC CCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01175.hp2 others(9): Show HG00280.hp1 HG00735.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG02683.hp2 HG03017.hp1 HG03704.hp1 HG03834.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0002 a0001c0021t0002 a0001c0002t0002 a0001c0021t0002	a0001c0002t0002g0001 a0001c0002t0002g0032 a0001c0002t0002g0037 others(8): Show a0001c0002t0002g0001 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0064 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0088 a0001c0002t0002g0125 a0001c0002t0002g0138 a0001c0021t0002g0046	12	223	0.0538	466	c.289 others(483): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCT CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCCCCCTCC CCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCTC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCCCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCC TCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(459): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTC CCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTAC CTTGTGTCCCTAGGCTCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC CTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0213 a0014c0021t0001g0213	1	378	0.0027	466	c.148 others(485): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGGAGAGCCTAGGGACACAAGGTAGGTAAG GAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGTA GTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(459): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTTCGCCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0190 a0001c0004t0002g0190	1	378	0.0027	466	c.148 others(485): Show c.1480-3233_1480-3232insGGGCGAAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTT GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTA GTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(459): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGA GAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACA GAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGA GACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGGGAGA CAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGACAGA GACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGAGACC CAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGAGAGA GACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGACA GAGACCCAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0126 a0002c0126	a0002c0126t0005 a0002c0126t0005	a0002c0126t0005g0149 a0002c0126t0005g0149	1	234	0.0043	466	c.816 others(481): Show c.816-783_816-782insCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCTGG TTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCTGTCTCT CCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCTCCCTCT GTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCT CTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCTCTCTGG GTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCTGGGTCT CTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCCGT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCT CTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(459): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATAATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT ATTATATATATATTATATAATATATTATATATATTATATAATATATTGTA TATTATATAATATATAATATATAATATATATTATATATAAATATATAATA TATAATATAATATATAATATATAATATATTATATATAATATATTATATAT ATTATATTATATATATTATATTATATATAATATATTATATATTATATATT TATATATAATATATTATATATTATATAATATATTATATATTATATATTAT ATAATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0049 a0003c0004t0049	a0003c0004t0049g0129 a0003c0004t0049g0129	1	348	0.0029	466	c.48+ others(481): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATAATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATATTATATATATATTATATAATATATTATATA TATTATATAATATATTGTATATTATATAATATATAATATATAATATATAT TATATATAAATATATAATATATAATATAATATATAATATATAATATATTA TATATAATATATTATATATATTATATTATATATATTATATTATATATAAT ATATTATATATTATATATTTATATATAATATATTATATATTATATAATAT ATTATATATTATATATTATATAATATATATAATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(459): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TATAATATATAATATATATTATATATAAATATATAATATATAATATATAT TATATTATATATTATATAATATGTAAATATATATTATATATATTATATAA TATATAATATATTATATATATTATATAATATATTATATATAATATAATAT ATAATATATTATATAATATATTATATATTATATAATATATTATATATAAT ATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01516.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01516.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0009 a0002c0003t0012g0009	4	348	0.0115	466	c.48+ others(481): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATATAATATATAATATATATTATATATAAATAT ATAATATATAATATATATTATATTATATATTATATAATATGTAAATATAT ATTATATATATTATATAATATATAATATATTATATATATTATATAATATA TTATATATAATATAATATATAATATATTATATAATATATTATATATTATA TAATATATTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(459): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TATAATATATATTATATATTATATATAAATATATAATATATAATATATAT TATATTATATATTATATAATATGTAAATATATATTATATATATTATATAA TATATAATATATTATATATATTATATAATATATTATATATAATATAATAT ATTATATATTATATAATATATTATATATTATATAATATATTATATATAAT ATATAATATATTATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18986.hp2 NA18998.hp2 others(1): Show NA18984.hp2 NA18986.hp2 NA18998.hp2 NA19003.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0012c0016 a0002c0003 a0012c0016	a0002c0003t0004 a0002c0003t0015 a0012c0016t0004 a0002c0003t0004 a0002c0003t0015 a0012c0016t0004	a0002c0003t0004g0011 a0002c0003t0004g0170 a0002c0003t0015g0011 others(1): Show a0002c0003t0004g0011 a0002c0003t0004g0170 a0002c0003t0015g0011 a0012c0016t0004g0011	4	348	0.0115	466	c.48+ others(481): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATATAATATATATTATATATTATATATAAATAT ATAATATATAATATATATTATATTATATATTATATAATATGTAAATATAT ATTATATATATTATATAATATATAATATATTATATATATTATATAATATA TTATATATAATATAATATATTATATATTATATAATATATTATATATTATA TAATATATTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(459): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAT CCGTCCGTCTGTCCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATC CATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCA TCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGT TTATCCATCCTCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0120 a0001c0001t0032g0125 a0001c0001t0032g0120 a0001c0001t0032g0125	2	366	0.0055	466	c.47 others(475): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGT CCGTCTGTCCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATC CATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCA TTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTAT CCATCCTCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(459): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGT CCGTCTGTCCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATC CATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCA TTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTAT CCATCCTCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 NA18941.hp2 NA18978.hp2 others(4): Show HG02080.hp2 NA18941.hp2 NA18978.hp2 NA18979.hp1 NA19057.hp1 NA19079.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0168 a0001c0001t0009 a0001c0001t0168	a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0046 others(4): Show a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0046 a0001c0001t0009g0141 a0001c0001t0009g0198 a0001c0001t0009g0329 a0001c0001t0168g0321	7	366	0.0191	466	c.47 others(475): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(459): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCATCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0286 a0001c0001t0158g0286	1	366	0.0027	466	c.47 others(475): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(459): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0192 a0001c0004t0004g0192	1	362	0.0028	466	c.-75 others(485): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTA TACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTC others(459): Show TGTGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	424	0.0024	466	c.26 others(477): Show c.2689_*2690insGTGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCC TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATAT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTAGCCTG others(459): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGT GTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	466	c.26 others(477): Show c.2690_*2691insTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NRXN2_chr11_64601174_64728197	64706152	A A	ATATAAAG others(459): Show ATATAAAGTATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATAAAGTATATATATAATATATATAATAT ATATTATATATAAAGTATATATATAATATATATAATATATATTATATATA TAAAGTATATATATAATATATATAATATATATTATATATATAAAGTATAT ATATAATATATATAATATATATTATATATATAAAGTATATATATAATATA TATAATATATATTATATATATAAAGTATATATATAATATATATAATATAT ATTATATATATAAAGTATATATATAATATATATAATATATATTATATATA TAAAGTATATATATAATATATAATATATATTATATATAAAGTATATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATATATA AAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0148 a0001c0003t0003g0148	1	308	0.0033	466	c.730 others(483): Show c.730+6817_730+6818insATATATATTATATATTTTATATATATAT AATATATATTATATATATACTTTATATATAATATATATTATATATATACT TTATATATAATATATATTATATATTATATATATACTTTATATATATAATA TATATTATATATATTATATATATACTTTATATATATAATATATATTATAT ATATTATATATATACTTTATATATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATATATTATATATATACTTTAT ATATATAATATATATTATATATATTATATATATACTTTATATATATAATA TATATTATATATATTATATATATACTTTATATATAATATATATTATATAT ATTATATATATACTTTATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATACTTTATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(459): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAGGCAG GCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGG CGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAAC CTCGTCTCTACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	300	0.0033	466	c.-51 others(477): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTG GAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGA CCAACATGGTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(459): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAGGCAG GCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGG CGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAAC CTCGTCTCTACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02809.hp1 others(3): Show HG02280.hp2 HG02647.hp2 HG02809.hp1 HG03195.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	300	0.0200	466	c.-51 others(477): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTG GAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGA CCAACATGGTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
NXN_chr17_794310_984776	841610	A A	AGCGCATC others(459): Show AGCGCATCTCATGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCAC AGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19007.hp1 NA18952.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0209 a0001c0001t0023g0052 a0001c0001t0005g0209 a0001c0001t0023g0052	2	242	0.0083	466	c.361 others(485): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCG CTGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGATGCGCTGTGGTCAGG GTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGA GATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCAGGGGGGACCTGCTCGCCGGCATGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGTC others(459): Show GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18522.hp1 HG00099.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0151 a0001c0001t0003g0091 a0001c0001t0003g0151	2	155	0.0129	466	c.155 others(485): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811340	C C	CCTTCCTT others(459): Show CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCCTTCCTTCCCTCCCTTGCTTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCC TTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTCCCTTCCCT TCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0168 a0001c0001t0015g0168	1	178	0.0056	466	c.773 others(481): Show c.773+688_773+689insTTCCTTCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTCCCTT GCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCC TTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCT TCCTTCCCTCCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(459): Show GTGTGTGCATATATATACATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0088 a0002c0003t0003g0088	1	156	0.0064	466	c.196 others(487): Show c.1964+81223_1964+81224insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(459): Show AGGGGATTGTGTGAGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTG TGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG ACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAG GAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGGGGGGG TTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAG GGGATTGTGTGAGAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	367	0.0027	466	c.4-1 others(479): Show c.4-1447_4-1446insCCCTCTCACACAATCCCCTCCTCTCACGGAAC CCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCACAC AATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCC TCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACACAATCCC CTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCTCACAGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACACAATCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCC TCTCACGGAACCCCCCCCCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(459): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGG AGGAGGAGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGAGGGGAGGGGGAG GAGGACGGGGAGGAGGAGGGGGAGGGGGAGGGAGGACGGGGAGGAGGAGG GGGGAGGGGGAGGAGGAGGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	115	0.0087	466	c.305 others(487): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAG GAGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGG AGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGAGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGGAGGACGGGGAGGAGGAGGGGGGA GGGGGAGGAGGAGGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGG AGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(459): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTGCATCTCCCCCCA ACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTCCCCC AACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCC CCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGC ACCTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	360	0.0028	466	c.37 others(477): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACC CTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCA CCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCAC TCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTC CCGCCCTCACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCG others(459): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18977.hp2 NA18987.hp2 others(2): Show HG02129.hp1 NA18977.hp2 NA18987.hp2 NA19012.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0001g0175 a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0001g0175	5	408	0.0123	466	c.215 others(483): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011909	T T	TGGGGTGT others(459): Show TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGG TGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0243 a0001c0005t0023g0243	1	334	0.0030	466	c.28- others(479): Show c.28-998_28-997insGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAG GGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGA GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTC others(459): Show TGTGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0190 a0001c0002t0006g0190	1	408	0.0025	466	c.-10 others(483): Show c.-10+1012_-10+1013insGTGTGTCTGCCTAGCCTGTGTGTGTGTG TCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCT TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTAGCCTG others(459): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGT GTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp2 NA20752.hp2 HG01346.hp1 HG02055.hp2 NA20752.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0016 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0016 a0002c0001t0001g0127 a0002c0001t0001g0128	3	408	0.0074	466	c.-10 others(483): Show c.-10+1014_-10+1015insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(459): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0001 a0007c0037t0001	a0007c0037t0001g0167 a0007c0037t0001g0167	1	216	0.0046	466	c.173 others(483): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCG others(459): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18949.hp2 NA18977.hp1 others(3): Show HG02129.hp1 NA18949.hp2 NA18977.hp1 NA19012.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0008g0001	6	422	0.0142	466	c.25 others(477): Show c.2585_*2586insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(459): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCT CCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	295	0.0034	466	c.126 others(485): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492366	C C	CGGGAGAC others(459): Show CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0062 a0001c0004t0011g0062	1	295	0.0034	466	c.126 others(485): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(459): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG GAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0048 a0029c0048	a0029c0048t0001 a0029c0048t0001	a0029c0048t0001g0139 a0029c0048t0001g0139	1	412	0.0024	466	c.205 others(481): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACGCCGACCCCTCCTCACTCCCCACGCCGACCC CTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(459): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATATTTAAATATATATATTTAAATATATATT AATATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTA TATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATA TATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATTTTTTTATATATATATATTTATATATATATTTTTAT ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02486.hp1 others(2): Show HG01884.hp1 HG02257.hp1 HG02486.hp1 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	5	408	0.0123	466	c.182 others(483): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATATTTAAAT ATATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAA TTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTT AAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATA TATATATTTTTAAATATATATATATTTATATATATTTTTTTATATATATA TATTTATATATATATTTTTATATATATATATTTATATATATATTTTTATA TATATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(459): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACAC ATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAA ACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGT ATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTAT ATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATAC GTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACAC ACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATAT AAACACATACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAA ACACATACGTGTATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	276	0.0036	466	c.494 others(485): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACGTGTATA TGTGTATATAAACACATACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(459): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTCCCTTCCCCTCCCTCCCTCTTTTTTTTCTTTTTTCTTTTTT TTGCTGTTCTTTTGTTTTTTGCTTTCCTTTTTTTTCATTGTTTTCTTTTG TTCTTCTTTTTTCCCTTCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTC CCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	232	0.0043	466	c.77 others(477): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCTCCCTCCCTCTTTTTTT TCTTTTTTCTTTTTTTTGCTGTTCTTTTGTTTTTTGCTTTCCTTTTTTTT CATTGTTTTCTTTTGTTCTTCTTTTTTCCCTTCCCCTCCCTCCTCCCTTC CCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(459): Show CCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGATC CTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCC AGATCTCAGACCCCAGACCCCAGATCCCAGACCCAAGATCCCAGACCCCA GATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAG ATCCCAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAG ATCCAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGA TCTCAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGA CCCCAGACCCCAGATCCCAGACCCCAAACCTCAGACCCCAGATCCCAGAC CCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0027 a0002c0003t0003g0027	1	203	0.0049	466	c.-12 others(485): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGAT CTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGATCTGGGGTCT GGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCT GGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAGGATCTGGGGTCTG GGATCTTGGGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGGGTCTGA GATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGGG ATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGGTCTAGGATCTGGGG TCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAGATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(459): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATAAATATAAATATATTATATATTATATAAATAT AAATATATTATATATTATATAAATATAAATATATTATATATTATATATAA ATATAAATATATTATATATTATATATAATATAAATATATTATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTAATA TATTATATATAATATAAATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0235 a0002c0007t0002g0235	1	346	0.0029	466	c.-70 others(483): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTATATATAATATATAATATATTTATATTTATATATAAT ATATAATATATTTATATTTATATAATATATAATATATTTATATTTATATA ATATATAATATATTTATATTTATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTATATATAATATATATAATATATTTATATT TATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATTATATATAATATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(459): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCC TCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0050 a0001c0002t0054g0050	1	168	0.0060	466	c.548 others(485): Show c.548+52885_548+52886insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCC TCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNE2_chr14_63848004_64231433	64038286	G G	GGGCCGGG others(459): Show GGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGGCGGCCGGGCA GAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CCTCCCAGACGATGGGCGGCCCGGCAGAGACGCTCCTCACTTCCCAGACG GGGCGGTTGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGG GCAGAGACGCTCCTCACTTCCCAGACGGGGCGGTTGCCAGGCGGAGGGTC TCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCATCTCCCA GACGGGGTCCCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGG CGGGGCAGAGACGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGA CGCTCCTCACTTCCTAGACGGGATGGTGGCCGGGAAGAGGCGCTCCTCAC TTCCTAGATGGGATGGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0014 a0002c0001t0001g0014	1	150	0.0067	466	c.722 others(485): Show c.7221+7059_7221+7060insGCTCCTCACTTCCCAGACGGGGCGGT TGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGA CGCTCCTCACTTCCCAGACGGGGCGGTTGCCAGGCGGAGGGTCTCCTCAC TTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCATCTCCCAGACGGGG TCCCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCA GAGACGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCT CACTTCCTAGACGGGATGGTGGCCGGGAAGAGGCGCTCCTCACTTCCTAG ATGGGATGGTGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGGC GGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGG GGCTCCTCACCTCCCAGACGATGGGCGGCCCGGCAGAGAC	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(459): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAG GGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGGGAGGGGGGAGGGAGGGGGGAGAGGGAGGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGG GGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp2 HG01109.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0046 a0001c0002t0029g0047 a0001c0002t0029g0046 a0001c0002t0029g0047	2	276	0.0073	466	c.-18 others(485): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCCTCCCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCCTCTCT CCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCT CTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTC TCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(459): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGGGGGGGGGAGAGAG GGGGAGGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGGAGGGGGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GAGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0093 a0001c0003t0093	a0001c0003t0093g0111 a0001c0003t0093g0111	1	276	0.0036	466	c.-18 others(485): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCTCCCTCCCTCC CTCCCCCTCTCTCTCCCCCCCCCCTCCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC TCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCCCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCC CTCCCCCTCTCTCCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCT CCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46859327	C C	CATAGAGG others(459): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTAAAAGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGA CCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(5): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG02723.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0003g0063 others(5): Show a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0008g0044 a0001c0001t0010g0004 a0001c0001t0011g0106 a0001c0001t0014g0065	8	112	0.0714	466	c.638 others(485): Show c.638-19307_638-19306insTGTGCCCCTTCCCGGGACCAGAATCC TTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTTAAAAGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCG GGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCC GGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCC CGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628769	A A	ACGGGGTG others(459): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0235 a0001c0003t0055g0235	1	352	0.0028	466	c.299 others(483): Show c.299-1344_299-1343insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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