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
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(458): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA CACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0003 a0002c0037t0003	a0002c0037t0003g0133 a0002c0037t0003g0133	1	155	0.0065	465	c.488 others(480): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT GTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG TGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG TTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(458): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACG CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19077.hp1 NA19082.hp1 HG02080.hp2 NA19077.hp1 NA19082.hp1	a0005 a0010 a0026 a0005 a0010 a0026	a0005c0010 a0010c0013 a0026c0018 a0005c0010 a0010c0013 a0026c0018	a0005c0010t0001 a0010c0013t0001 a0026c0018t0002 a0005c0010t0001 a0010c0013t0001 a0026c0018t0002	a0005c0010t0001g0024 a0010c0013t0001g0134 a0026c0018t0002g0018 a0005c0010t0001g0024 a0010c0013t0001g0134 a0026c0018t0002g0018	3	155	0.0194	465	c.488 others(480): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTATGTGTTTG TGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG TTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544820	T T	TACCACCA others(458): Show TACCACCACCATCACCACCACCATCACCACCACCACTACCACCACCACCA CCACCACCACCACCACCACTACCACCTCTACCACCTCTACCACCACTACC ACCTCTACCACCTCTACCACCACGACCACCACCATCACCTCTACCACCAC CATCACCACCACCACCACCACTACCACCTCTACCACCACCACCACCACCA CCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACC ACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCAC CATCACCACCACCACCACCATCACCACCATCATCACCACCACCACTACCA CCTCTACCACCACCGCTACCATCACCACCACTACCACCACCATCACCACC ACTACCACTACCTCTACCTCCACTGCTACCATCACCACCACCACTACCAC CTCTACCACCACCATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG03130.hp1 HG02559.hp1 HG02622.hp1 HG03130.hp1	a0011 a0025 a0011 a0025	a0011c0013 a0025c0019 a0011c0013 a0025c0019	a0011c0013t0005 a0025c0019t0015 a0011c0013t0005 a0025c0019t0015	a0011c0013t0005g0002 a0011c0013t0005g0039 a0025c0019t0015g0057 a0011c0013t0005g0002 a0011c0013t0005g0039 a0025c0019t0015g0057	3	134	0.0224	465	c.520 others(486): Show c.5208-19911_5208-19910insGATGGTGGTGGTAGAGGTGGTAGT GGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGA TGGTGGTGGTAGTGGTGGTGATGGTAGCGGTGGTGGTAGAGGTGGTAGTG GTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT AGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGG TGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGATGGTGGTGGT AGAGGTGATGGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGG TGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(458): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTT CACCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCA CCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATC ACCATCACCATCACCTCCACCACCACCACCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCA CCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATC ACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	274	0.0037	465	c.804 others(482): Show c.804+4328_804+4329insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTG GTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTG GTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAG ATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(458): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG02698.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0175 a0001c0001t0003g0171 a0001c0001t0003g0175	2	323	0.0062	465	c.-36 others(476): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(458): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA18967.hp2 HG02145.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0178 a0001c0001t0003g0182	2	323	0.0062	465	c.-36 others(476): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GATGGGCA others(458): Show GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAA GGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	204	0.0049	465	c.978 others(482): Show c.978-2483_978-2482insATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INSR_chr19_7107265_7299414	7153374	C C	CACCACAC others(458): Show CACCACACACCACACACACCAAACACACCATACATGCACCACACACACAC CACATGCACACCTCACACACCATACCACACACCACACACACCACACAAAT CACACACATACTACACACACCCACGCCACACACCACACACACACCACACA CGCCACACAACGGACCACACATACACCACACACCACAAACACAACCACAC ACACACTATACACACACACCACACACACCACACAACAGACCACACATACA CACACCACACACCACAAACACACACCATACACACACACCACACATACCAC ACACACCACACACACAACCACACACACACACCACACACACAACACACAAC AGACCACACATACACACACCACAAACACAACCACACACACCACACATACC ACACACACACCACACATACCACACACACACCACACACACAACCACACACA CCACACCATACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0155 a0001c0030t0155	a0001c0030t0155g0283 a0001c0030t0155g0283	1	300	0.0033	465	c.203 others(482): Show c.2030-448_2030-447insTGTGTGTATGGTGTGGTGTGTGTGGTTG TGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGT GTGTGTGGTTGTGTTTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGT GTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTG GTGTGTGTGTATGGTGTGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGT CTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGT TTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGT GTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGATTTGTGTGGTG TGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGG TGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(458): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCC ATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCT CCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTC CCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18999.hp1 NA19088.hp2 NA18971.hp2 NA18999.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0003 a0001c0001 a0003c0002 a0003c0003	a0001c0001t0002 a0003c0002t0002 a0003c0003t0002 a0001c0001t0002 a0003c0002t0002 a0003c0003t0002	a0001c0001t0002g0114 a0003c0002t0002g0107 a0003c0003t0002g0056 a0001c0001t0002g0114 a0003c0002t0002g0107 a0003c0003t0002g0056	3	158	0.0190	465	c.11 others(486): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATC CCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCC CTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCC CTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(458): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCA TCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTC CCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCTC CCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0029 a0006c0041t0029	a0006c0041t0029g0019 a0006c0041t0029g0019	1	158	0.0063	465	c.11 others(486): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTATCCCCCTCC CCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCC CCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCC CTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514222	T T	TCCTCCCT others(458): Show TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCT CCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCC CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCC TCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTC CCTCCCTCCCTCCCTCCCTCTCTTCCTCCTCTCTTCCTCCCTCTCTCCCT CCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTC CCTTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0222 a0006c0018t0002g0222	1	254	0.0039	465	c.-84 others(482): Show c.-84+9480_-84+9481insTCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCC TTCCTCCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCT CTCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCTCTCTTCCTCCC TCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCC TTCCTCTCTCCCTCCCTCCCTCCCCTCCCTTCCTCTCTCCCTCCCTCCCT TCCTTCCTCCCTTCCTCTCTCTCTCCCTCCCTCCCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4B_chr19_4964113_5158598	5131604	A A	AGGGGGCA others(458): Show AGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGG TGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGG GGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGCAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0129 a0001c0001t0015g0129	1	270	0.0037	465	c.178 others(482): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGCACAG GGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(458): Show GCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGG TGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACC CCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGG GGGCCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGAC CCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGT AGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGG ACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGAC CCCTGAGTGAGGGGGTAGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTG GGGGCCGCCATCAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0130 a0002c0010t0001g0130	1	330	0.0030	465	c.430 others(480): Show c.430-232_430-231insTCCTGATGGCGGCCCCCACCCCTCACTCAG GGGCCCAGCAGGCAGCCCCTACCCCCTCACTCAGGGGTCCTGATGCTGGC TCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGG GTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCC CTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGC CCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCA GGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGG CTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGG GGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCTCCCCC others(458): Show TCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTC CCTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCC CCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCCTC CCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTTCC CCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCT CTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	400	0.0025	465	c.121 others(484): Show c.1214-2392_1214-2391insTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTCCC CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCCTCC TCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTC CCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCT CCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCC CTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTCCCCC TCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTC CTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(458): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCC CTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	465	c.-27 others(476): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(458): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAGGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAGGTGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAG GAAGGAGGGAGAGGAAGGAAGAGAAAGGAAAAAAAGGAGGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGAAGGAGG AAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGG AGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAG AAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0084 a0011c0008t0002g0085 a0011c0008t0002g0084 a0011c0008t0002g0085	2	88	0.0227	465	c.507 others(484): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAGGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAAAGAAGGAAGG AAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAAGAGAAAGG AAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAA AGGAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGG AAGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAG GAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGA AGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(458): Show ATATATATATATATATATACATACATATATATATATATACATACATATAT ATATATATACATACATATATATATACATACATACATATATATATATATAC ATACATACATATATATATATACATACATATATATATATACATACATATAT ATATATATATACACATACATATATATATACATACATATATATATATATAC ATACATATATATATATACATACATATATATATACACATACATATATATAT ATACATACATATATATATATATACACATATATATATATACATACATATAT ATATACATACATATATATATATACACATACATATATATATATACACATAT ATATATATACACACATATATATATATACACATATATATATACACATATAC ATATATATATATACATACACATATATATATATATATATATGTATATATAT ATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0161 a0001c0004t0001g0161	1	300	0.0033	465	c.218 others(480): Show c.218+246_218+247insATATATATATATATATACATACATATATAT ATATATACATACATATATATATATATACATACATATATATATACATACAT ACATATATATATATATACATACATACATATATATATATACATACATATAT ATATATACATACATATATATATATATATACACATACATATATATATACAT ACATATATATATATATACATACATATATATATATACATACATATATATAT ACACATACATATATATATATACATACATATATATATATATACACATATAT ATATATACATACATATATATATACATACATATATATATATACACATACAT ATATATATATACACATATATATATATACACACATATATATATATACACAT ATATATATACACATATACATATATATATATACATACACATATATATATAT ATATATATGTATATATATATATATATATATGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHPP_chr10_124456823_124619141	124507825	A A	AGGGTAGA others(458): Show AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTTGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTCGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	260	0.0039	465	c.625 others(482): Show c.625-9329_625-9328insATAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTTGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(458): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	465	c.-42 others(476): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(458): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAG GCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGG AAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGG AGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGG AAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGG GGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGG AAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	280	0.0036	465	c.641 others(480): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MUC4_chr3_195741771_195816929	195776774	C C	CCCATACC others(458): Show CCCATACCTTCCACATCCATACCTTCCACGGCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACAGTCATACCTTCCACGGCCATACCTTCCACGGCCATACCTTCCACA CCCATACCTTCCACATCCATACCTTCCACGCCCATACCTTCCACATCCAT ACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACGGCCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACGGCCAT ACCTTCCACACCCATACCTTCCACAGTCAAACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACG CCCATACCTTCCACGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0061 a0061	a0061c0040 a0061c0040	a0061c0040t0001 a0061c0040t0001	a0061c0040t0001g0179 a0061c0040t0001g0179	1	249	0.0040	465	c.129 others(486): Show c.12943+1528_12943+1529insCCGTGGAAGGTATGGGCGTGGAAG GTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTTTGACTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGT GGAAGGTATGGGTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATG GCCGTGGAAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGATGT GGAAGGTATGGGCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAG GTATGGCCGTGGAAGGTATGGCCGTGGAAGGTATGACTGTGGAAGGTATG GGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777015	C C	CCATACCT others(458): Show CCATACCTTCCACACCCATACCTTCCACACCCATAACTTCCACACCCATA CCTTCCACATCCATGCCTTCCACGGCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATAACTTCCACACCCATA CCTTCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACAC CCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0085 a0085	a0085c0194 a0085c0194	a0085c0194t0004 a0085c0194t0004	a0085c0194t0004g0242 a0085c0194t0004g0242	1	249	0.0040	465	c.129 others(486): Show c.12943+1287_12943+1288insACTGTGGAAGGTATGGGTGTGGAA GGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTG TGGAAGTTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGCCGTGGAAGGCATGGATGTGGAAGGTATGGGTG TGGAAGTTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777707	A A	ATACCTTC others(458): Show ATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCA CACCCTTACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACATCCATACC TTCCACGCCCATACCTTCCACATCCATACCTTCCACGCCCATACCTTCCA CGCCCATACCTTCCACAGTCATACCTTCCACGCCCATACCTTCCACGCCC ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTC ATACCTTCCACACCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0073 a0073	a0073c0203 a0073c0203	a0073c0203t0009 a0073c0203t0009	a0073c0203t0009g0237 a0073c0203t0009g0237	1	249	0.0040	465	c.129 others(484): Show c.12943+595_12943+596insAGGGTGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGCGTGGAA GGTATGGGCGTGGAAGGTATGACTGTGGAAGGTATGGGCGTGGAAGGTAT GGGCGTGGAAGGTATGGATGTGGAAGGTATGGGCGTGGAAGGTATGGATG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCCTTAC others(458): Show TCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCC CTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCT GGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18991.hp1 NA19057.hp1 HG02080.hp2 NA18991.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296	3	378	0.0079	465	c.147 others(484): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668244	C C	CCTTACCT others(458): Show CCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCCTCCGCCCGCCT TACCCACTACTGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TCTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	378	0.0027	465	c.147 others(484): Show c.1479+3269_1479+3270insAGGGTGGAGGGCCAGAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGG GTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCAGTAGTGGGTAAGGCGGGCGG AGGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668244	C C	CCTTACCT others(458): Show CCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TCTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	378	0.0027	465	c.147 others(484): Show c.1479+3269_1479+3270insAGGGTGGAGGGCCAGAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGG GTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894364	A A	ATAATATA others(458): Show ATAATATATATTATATATAAATATATAATATATATAATATATATTATATA TAAATATATAATATATATAATATATATTATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATAATATATATTATATATAAATATATAATATATAT AATATATATTATATATAAATATATAATATATATAATATATATTATATATA AATATATAATATATATTATATATAAATATATAATATATATTATATATAAA TATATAATATATATAATATATATTATATATAAATATATATTATATATTAT ATATTTATATATTATAATATATAAATATATAATATATAATATATATTATA TATAAATATATTATAATATATAATATATATTATATATAAATATATAATAT ATAATGTATATTATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0037 a0002c0002t0014 a0002c0002t0037	a0002c0002t0014g0019 a0002c0002t0037g0019 a0002c0002t0014g0019 a0002c0002t0037g0019	2	348	0.0058	465	c.48+ others(478): Show c.48+985_48+986insATATATATTATATATAAATATATAATATATAT AATATATATTATATATAAATATATAATATATATAATATATATTATATATA AATATATAATATATATAATATATATTATATATAAATATATAATATATATA ATATATATTATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATAATATATATTATATATAAATATATAATATATATAA TATATATTATATATAAATATATAATATATATTATATATAAATATATAATA TATATTATATATAAATATATAATATATATAATATATATTATATATAAATA TATATTATATATTATATATTTATATATTATAATATATAAATATATAATAT ATAATATATATTATATATAAATATATTATAATATATAATATATATTATAT ATAAATATATAATATATAATGTATATTATATTA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAA others(458): Show TTATATAAAATATATAATATATATAATAATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATT TATATATAAATATATATAATATATAATATATATTATATATAAATATATAT ATAATATATAATATATATTATATATAAATATATAATATATAATATATATT ATATTATATATTATATAATATGTAAATATATATTATATATATTATATAAT ATATAATATATTATATATATTATATAATATATTATATATAATATAATATA TTATATATTATATAATATATTATATATTATATAATATATTATATATAATA TATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0177 a0002c0003t0004g0177	1	348	0.0029	465	c.48+ others(480): Show c.48+1021_48+1022insATATAAAATATATAATATATATAATAATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATTTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATATAATATATAATATATATTATATATAAATATA TAATATATAATATATATTATATTATATATTATATAATATGTAAATATATA TTATATATATTATATAATATATAATATATTATATATATTATATAATATAT TATATATAATATAATATATTATATATTATATAATATATTATATATTATAT AATATATTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(458): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	356	0.0028	465	c.91+ others(478): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535916	C C	CGGGGCAA others(458): Show CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CTGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAG CACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGC ACTCAGGATCCCTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02970.hp1 NA20129.hp1 HG01106.hp1 HG02970.hp1 NA20129.hp1	a0001 a0033 a0001 a0033	a0001c0001 a0001c0026 a0033c0053 a0001c0001 a0001c0026 a0033c0053	a0001c0001t0034 a0001c0026t0001 a0033c0053t0001 a0001c0001t0034 a0001c0026t0001 a0033c0053t0001	a0001c0001t0034g0321 a0001c0026t0001g0202 a0033c0053t0001g0203 a0001c0001t0034g0321 a0001c0026t0001g0202 a0033c0053t0001g0203	3	324	0.0093	465	c.140 others(482): Show c.140+8107_140+8108insAGGAGGGATCCTGAGTGCTCCCCCCCAC CCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCC CCCTCCACCCACTCCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGA GTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535983	T T	TGGTGGGT others(458): Show TGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGC ATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGAGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGC ATGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCT GGGGCAATGGGTGCAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	324	0.0031	465	c.140 others(482): Show c.140+8040_140+8041insCTGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACTCCCACCATGCACCCATTGCCCCAGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCATGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGC CCCAGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCAGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCAGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(458): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGTGGGGGAGG GAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGG GAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGG GAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAAGGAGGA GGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGA GGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGA GGAAGCAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0112 a0001c0001t0009g0112	1	344	0.0029	465	c.154 others(482): Show c.1545+370_1545+371insCCCTTCCCCTGCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCC TCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(458): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGG AGGGGGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAA GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAA GGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGG AAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGG GAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGG GAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18995.hp2 HG02027.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0148 a0002c0002t0151 a0002c0002t0148 a0002c0002t0151	a0002c0002t0148g0329 a0002c0002t0151g0328 a0002c0002t0148g0329 a0002c0002t0151g0328	2	344	0.0058	465	c.154 others(482): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(458): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG AGGAGGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGG GAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGG GAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 homoSapiens_chm13v2.hp1 HG03927.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0132 a0002c0002t0135 a0002c0002t0132 a0002c0002t0135	a0002c0002t0132g0055 a0002c0002t0135g0085 a0002c0002t0132g0055 a0002c0002t0135g0085	2	344	0.0058	465	c.154 others(482): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCCTC CCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCC TTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCC CTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(458): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGTGGGGG AGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAA GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAA GGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGG AAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGG GAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGG GAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0140 a0002c0002t0140	a0002c0002t0140g0029 a0002c0002t0140g0029	1	344	0.0029	465	c.154 others(482): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NTN3_chr16_2466297_2479145	2466524	A A	ATACAAAA others(458): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAGGCAGG CACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGC GGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAAACC TCGTCTCTACTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG06807.hp2 HG02809.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	300	0.0067	465	c.-51 others(476): Show c.-5178_-5177insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGG AAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGAC CAACATGGTGAAACCTCGTCTCTACTAAAAC	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding		4772		chr16	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCG others(458): Show TCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACC CTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAG CATCTCACACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCTCACACC CGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTC CCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCA CGCCGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	242	0.0041	465	c.361 others(484): Show c.361-15366_361-15365insGACCTGCTCGCCGGCGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCG CCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGAT GCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTC GGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(458): Show TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACC CACAGGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACAGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACATGG GCGAGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	242	0.0041	465	c.361 others(484): Show c.361-15565_361-15564insGGGGGGACCTGCTCGCCCATGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGT GGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(458): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAACATGTATTACATATAT GTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	465	c.70 others(476): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(458): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAACATGTATTACATATAT GTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	400	0.0025	465	c.70 others(476): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(458): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGG GGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp2 others(1): Show HG01074.hp1 HG01168.hp2 HG01169.hp2 HG02055.hp2	a0002 a0005 a0002 a0005	a0002c0016 a0005c0002 a0002c0016 a0005c0002	a0002c0016t0019 a0005c0002t0009 a0002c0016t0019 a0005c0002t0009	a0002c0016t0019g0064 a0005c0002t0009g0153 a0005c0002t0009g0160 others(1): Show a0002c0016t0019g0064 a0005c0002t0009g0153 a0005c0002t0009g0160 a0005c0002t0009g0162	4	166	0.0241	465	c.633 others(482): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGACGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PKP3_chr11_389209_409908	401106	C C	CCCCGCTC others(458): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCGCTCACACCCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACC CCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG CCCCGCTCACCCCCGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	216	0.0046	465	c.173 others(482): Show c.1737+444_1737+445insCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2123896	A A	AGGGTCAA others(458): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATG GTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	286	0.0035	465	c.335 others(484): Show c.335-11360_335-11359insAGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCG TGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124224	C C	CGGCTATA others(458): Show CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAG TTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02896.hp1 HG01517.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0205 a0001c0002t0001g0211	2	286	0.0070	465	c.335 others(484): Show c.335-11036_335-11035insCTATAGTTGGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGG TAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR20A_chr13_57135918_57148939	57140439	C C	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp2 others(42): Show HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00621.hp1 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02818.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18965.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18994.hp1 NA19057.hp1 NA19065.hp1 NA19074.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp1	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0012c0009 a0014c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0045 a0001c0010t0002 a0012c0009t0001 a0014c0011t0044	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0026g0001 a0001c0001t0026g0010 a0001c0001t0028g0001 a0001c0001t0042g0001 a0001c0001t0043g0001 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0002g0001 a0001c0002t0003g0012 a0001c0002t0045g0001 a0001c0010t0002g0001 a0012c0009t0001g0001 a0014c0011t0044g0032	45	330	0.1364	465	c.-71 others(474): Show c.-712_-711insCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCA CTTGACATCCTCACTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGC AAGCCAAGCTCCGCAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCT GCCTGAATGAACCGGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGC TGTCCACACTGGGTCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGA ACTTTCTCCTCCTCTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGC CCAACCCCGAGGGCTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGC GGACCCTGGGTTGGCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATG TTAACCCGCTGCCGGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAA GACCAGCTCCTGCGCGGACCCTGCCTCCA	PRR20A	ENSG00000204919.1	transcript	ENST00000377931.1	protein_coding		478		chr13	TogoVar
PRR20A_chr13_57135918_57148939	57140439	C C	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGGTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01167.hp2 others(11): Show HG00639.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02148.hp1 HG02300.hp1 HG02300.hp2 HG03491.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0002t0001g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0002t0001g0001 a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0003g0001 a0001c0002t0003g0012	14	330	0.0424	465	c.-71 others(474): Show c.-712_-711insCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCA CTTGACATCCTCACTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGC AAGCCAAGCTCCGCAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCT GCCTGAATGAACCGGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGC TGTCCACACTGGGTCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGA ACTTTCTCCTCCTCTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGC CCAACCCCGAGGGCTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGC GGACCCTGGGTTGGCGCTCCTTCACAGCCAGGGTGGTCGTTTCTGAAATG TTAACCCGCTGCCGGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAA GACCAGCTCCTGCGCGGACCCTGCCTCCA	PRR20A	ENSG00000204919.1	transcript	ENST00000377931.1	protein_coding		478		chr13	TogoVar
PSMF1_chr20_1113602_1177246	1149893	C C	CGTGACCC others(458): Show CGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACA CCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATT AGCTGGATGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG02602.hp1 others(18): Show HG00621.hp1 HG00733.hp2 HG02602.hp1 HG03041.hp1 HG03239.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp1 NA18977.hp2 NA18991.hp1 NA19001.hp1 NA19009.hp2 NA19055.hp2 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0193 others(18): Show a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0193 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140	21	326	0.0644	465	c.552 others(484): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCT GGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTG TGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1150048	T T	TGTGACCC others(458): Show TGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACA CCACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATT AGCTGGATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00639.hp2 others(10): Show HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01255.hp1 HG02074.hp2 HG02602.hp2 HG02886.hp2 HG03669.hp1 HG04184.hp1 NA18984.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0001t0047 a0001c0001t0056 a0001c0001t0063 a0001c0001t0066	a0001c0001t0001g0200 a0001c0001t0004g0016 a0001c0001t0004g0219 others(10): Show a0001c0001t0001g0200 a0001c0001t0004g0016 a0001c0001t0004g0219 a0001c0001t0005g0203 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0218 a0001c0001t0026g0016 a0001c0001t0026g0208 a0001c0001t0047g0225 a0001c0001t0056g0207 a0001c0001t0063g0188 a0001c0001t0066g0206	13	326	0.0399	465	c.552 others(484): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCT GGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCG TGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTK6_chr20_63523001_63542376	63535975	C C	CCCCTCCT others(458): Show CCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCAC CTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTG GCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCC TCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCC GCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTCCT CACCTGGCCTCCCGCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	344	0.0029	465	c.231 others(480): Show c.231-917_231-916insTGCGGGAGGCCAGGTGAGGACGGGGTGGGA GGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCC AGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGG TGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGA GGAGGGGGCGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGG GCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCG GGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCC AGGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(458): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	374	0.0027	465	c.-46 others(476): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATG GTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar

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