Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03688.hp2 HG00738.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	244	0.0082	414	c.31 others(425): Show c.3138_*3139insGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAG GGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCAC GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	414	c.31 others(425): Show c.3138_*3139insGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAGG GGCACCCACACGGGCAGCACGGGGGGGGGCACGGGGGAGGGGACAGCCAC ACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCAC GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG GGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GRAMD4_chr22_46615386_46684785	46635113	A A	AGCCACTC others(407): Show AGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGA ACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTC TTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	267	0.0037	414	c.163 others(431): Show c.163-2691_163-2690insCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTC CCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGAC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTG GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635509	C C	CTCCCTGC others(407): Show CTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCCGCCCCTGG CCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCCGGCCAC TCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCC TGGGGGACCGTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0191 a0001c0001t0015g0191	1	202	0.0050	414	c.163 others(431): Show c.163-2320_163-2319insACCCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTA TCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCC CCGCCCCTGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCAC CCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCC GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRTP1_chr13_113319163_113369130	113346045	C C	CGAGAACA others(407): Show CGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGA CCCAGGAGGATCTCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGC TGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGAGAGGACC TCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCA GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGG AGGACCTCTGTGGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	267	0.0037	414	c.466 others(431): Show c.466-1087_466-1086insTGCCACAGAGGTCCTCCCGGATCCGCTC AGCCACAGAGGTGCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGG GTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAG GTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCTGGGTCTGTTCTC GGCCACAGATGTCTTCCCAGGTCTGCTCAGCCGCAGAGGTCCTCTCGGGT CTGCTCTCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTGC TCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCC ACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCT GCTCTTGTCCACAGAGGTCCTCCTGGGTCTGTTCTC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(407): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCCCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0044 a0001c0026t0002g0044	1	376	0.0027	414	c.633 others(431): Show c.633-1323_633-1322insTCCTCCTCTCCTGCGTGGACGCCCCACT TCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602255	C C	CCCTCCTC others(407): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0376 a0001c0017t0001g0376	1	392	0.0026	414	c.633 others(431): Show c.633-1120_633-1119insCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HIVEP3_chr1_41501365_41923922	41544798	T T	TCACCACC others(407): Show TCACCACCACCACTACCACCTCTACCACCTCTACCACCACTACCACCACT ACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCAC CACCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCA CCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCTCTACC ACCACCATCACTACTACCACCACCACCACCTCTACCACCATCGCTACCAT CACCACCACCACCACTATCACCGCCACCACCATCGCTACCATCACCACCA CCACCACTACCACCACCACCACCACCAATACCACTACCTCTACCTCCACT GCTACCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCAC CACTACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0042 a0006c0012t0050 a0006c0012t0042 a0006c0012t0050	a0006c0012t0042g0052 a0006c0012t0050g0003 a0006c0012t0042g0052 a0006c0012t0050g0003	2	132	0.0152	414	c.520 others(435): Show c.5208-19889_5208-19888insGTGGTGGTGGTAGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTGGAGGT AGAGGTAGTGGTATTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGA TGGTAGCGATGGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCG ATGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGT GGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGA TGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAG GTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGT AGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(407): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	28	0.0357	414	c.124 others(429): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33323166	T T	TATATATG others(407): Show TATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATAT ATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATACATATG GAATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGG AATATATATATATGGAATATATGTATGGAATATATATATATGGAATATAT GTATGGAATATATATATGGAATATATGTATGGAATATATATATGGAATAT ATGTATATGGAATATATATATGGAATATATATATATGGAATATATATGGA ATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	307	0.0033	414	c.-18 others(425): Show c.-1890_-1889insATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATACATATGGAATATATATGTTTGGAATATATATATATGGAATA TATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAAT ATATATATGGAATATATGTATATGGAATATATATATGGAATATATATATA TGGAATATATATGGAATATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1803		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(407): Show CGGGGACATGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	273	0.0037	414	c.625 others(433): Show c.625-12590_625-12589insGGGGACATGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3						chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(407): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATATTATATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0077 a0001c0001t0014g0077	1	4	0.2500	414	c.62- others(433): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TAGAATTATATATATAATATATATTATATATATAGAATTATATATATAAT ATATATTATATATATATAATATATATATAATATATATTATATATATAGAA TTATATATATAATATATATTATATATATAGAATATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(407): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATATTATATATATATTCTATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02056.hp1 HG01517.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0061 a0001c0001t0004g0043 a0001c0001t0003g0061 a0001c0001t0004g0043	2	5	0.4000	414	c.62- others(433): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATATAATATATATTATATA TAGAATTATATATATAATATATATTATATATATAGAATTATATATATAAT ATATATTATATATATAGAATATATATATAATATATATTATATATATAGAA TTATATATATAATATATATTATATATATAGAATATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(407): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCATTATCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATC ACCATCACCACCATCACCATCACCACCATCACCATTACCACCACCATTAC CACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCA TTATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACC ACCACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCAC CATCACCATCACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0220 a0001c0002t0066g0220	1	196	0.0051	414	c.691 others(429): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTA ATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGGTGATAATGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTAATGGTGGTGGTA		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(407): Show GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGA GGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0033 a0004c0004t0005g0033	1	242	0.0041	414	c.178 others(431): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAG GAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAG GGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGT GGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGG GAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGGAGG AGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(407): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	237	0.0042	414	c.178 others(431): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(407): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAAGAGGAGGAGGAAGAG GAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	5	0.2000	414	c.583 others(429): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCTCC TCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCTTATTCA TCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCACTGC CTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCCTCCTC CCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCCACTCC CTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCCTCCCC CTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCCTCCTT CTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349785	G G	GGTGGGGG others(407): Show GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGA TGATGGTGGGGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGG GTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGAT GATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGGGG GTGATGACGGTGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0054 a0024c0054	a0024c0054t0001 a0024c0054t0001	a0024c0054t0001g0057 a0024c0054t0001g0057	1	139	0.0072	414	c.956 others(431): Show c.956+1918_956+1919insTCCCACCGTCATCACCCCCACCGTCATC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCC CCACCCCCACCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACC CCCACCCCCACCATCATCACCCCTACCCCCACCATCATCACCCCTACCAT CACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(407): Show ACACCCACTCCACACCAGCCTCCTACATGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAG ACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	179	0.0056	414	c.503 others(429): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTG TGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTA GGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTG TGTGGACATGTAGGAGGCTGGTGTGGAGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LUC7L_chr16_183990_234449	187155	G G	GGGAGGAA others(407): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGTCACGGGAGGAACAGCGTCACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	282	0.0035	414	c.20 others(425): Show c.2042_*2043insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG ACGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					1834		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2210416	G G	GTATTCGG others(407): Show GTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTAT TCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCATATTCGG GACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACC GCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCA GCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT GCATTCCCGTGGACTCTCTAGGAGCCATATTCAGGACCGCCAGCCTGCAT TCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCC GTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGG ACTCTCTAGGAGCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0244 a0001c0011t0001g0244	1	250	0.0040	414	c.986 others(431): Show c.986+2795_986+2796insTGGCTCCTAGAGAGTCCACGGGAATGCA GGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCT GGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCG GTCCTGAATATGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCC CGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAA TACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACG GCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATATGGCTC CTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAG AGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATA		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210468	G G	GGGACCGC others(407): Show GGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGA CCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGC CAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGC CCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGC ATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTC CCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGT GGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGAC TCTCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACTCTC TAGGAGCCATATTCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	247	0.0040	414	c.986 others(431): Show c.986+2743_986+2744insTGAATATGGCTCCTAGAGAGTCCACGGG AATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATG CGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGG CTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGG CGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGT CCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCG AATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATA CGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGC TCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18						chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(407): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATTATACATTATATATAATGTATAATATATAT TATATATAATATACATTATATATAATGTATAATATATATTATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0030 a0004c0002t0001g0030	1	112	0.0089	414	c.299 others(435): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATTATAC ATTATATATAATGTATAATATATATTATATATAATATACATTATATATAA TGTATAATATATATTATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39						chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(407): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18997.hp1 HG00408.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0280 a0001c0001t0001g0284	2	256	0.0078	414	c.391 others(429): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACC ACCATCACCACCACCACCACCATCACCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(407): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATATATA TTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	109	0.0092	414	c.343 others(431): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAAT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(407): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATATA TTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	109	0.0092	414	c.343 others(431): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATATGAATCTATATATGAATATATATGA ATCTATATATGAATATATATGAATCTATATATGAAT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
MCF2L_chr13_112964214_113104742	113033252	C C	CGTGAGTG others(407): Show CGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCC ATGGCGTGAGTGGCCCCCGTGACGTGAGTGGCCCCCGTGACATTAGTGGA CCCCGTGGCATGAGTGGCTGCCATGACGTGAGTGGCCCCCGTGATGTGAG TGGCCCCTGTGACATTAGTGGACCCCATGGCATGAGTGGCCCCCATGACG TGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCTGT GACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCGTGATGTGAGTGGCCC CCATGACGTGAGTGGCCCCCGTGACATTAGTGGCCCCCGTGACGTGAGTG GCCCCCGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCATGACGTG AGTGGCCCCCGTGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	63	0.0159	414	c.278 others(431): Show c.278+8494_278+8495insGTGAGTGGCCCCTGTGACATTAGTGGAC CCCGTGGCGTGAGTGGCCCCCATGGCGTGAGTGGCCCCCGTGACGTGAGT GGCCCCCGTGACATTAGTGGACCCCGTGGCATGAGTGGCTGCCATGACGT GAGTGGCCCCCGTGATGTGAGTGGCCCCTGTGACATTAGTGGACCCCATG GCATGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCC CGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTGGCGTGAGTGG CCCCCGTGATGTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGACATTA GTGGCCCCCGTGACGTGAGTGGCCCCCGTGACATTAGTGGACCCCGTGGC GTGAGTGGCCCCCATGACGTGAGTGGCCCCCGTGAT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29						chr13	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(407): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0227	1	251	0.0040	414	c.377 others(431): Show c.377-3432_377-3431insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583504	G G	GCAGCCAC others(407): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCTCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0065 a0065	a0065c0053 a0065c0053	a0065c0053t0026 a0065c0053t0026	a0065c0053t0026g0011 a0065c0053t0026g0011	1	238	0.0042	414	c.377 others(431): Show c.377-3576_377-3575insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGAGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp1 HG03831.hp2 others(3): Show HG02698.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18964.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0116 a0001c0001t0001g0229	6	364	0.0165	414	c.112 others(431): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	361	0.0028	414	c.112 others(431): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02809.hp2 HG02896.hp1 others(9): Show HG01516.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp2 NA19002.hp1 NA19030.hp1 NA19062.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0136 a0001c0001t0002g0021 a0001c0001t0002g0030 others(3): Show a0001c0001t0001g0136 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0178 a0001c0001t0006g0119 a0001c0003t0001g0034	12	372	0.0323	414	c.112 others(431): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735537	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 NA18960.hp2 others(2): Show HG00735.hp1 HG01934.hp2 NA18960.hp2 NA19004.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132	5	377	0.0133	414	c.112 others(431): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(407): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ACGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGA GGTTATGGCAGTTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0012 a0015c0033t0012	a0015c0033t0012g0200 a0015c0033t0012g0200	1	233	0.0043	414	c.224 others(433): Show c.2242-4789_2242-4788insATAACTGCCATAACCTCCATAACTTC CCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCGTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCCTAACCTCCATAACCTCCATAACCTCCATAATCTCCC TAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACC TCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGT AACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876874	G G	GGGAGGTT others(407): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGA GGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0062 a0001c0001t0001g0065	2	171	0.0117	414	c.224 others(433): Show c.2242-4852_2242-4851insATAACCTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACT TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(407): Show GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	159	0.0063	414	c.224 others(433): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCC TCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACCT CCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MLPH_chr2_237482251_237560322	237517561	G G	GGGTAGGC others(407): Show GGGTAGGCAGCTGGGTGGATGGGTAGATGGATGAAGTCGGGAGGGATGAG TGGTGGGTGGATGGATAGATGAATGGATGGATAGGCAAGTGGAGGGGTGG ATGGGTAGGTGAATGAGTGGATAGATGGGTGGATGCATGGATGCATGGAT GGATGGATGAACGGATGGATGGATGGATGGATAAGTAGGTGGATGGGCAG ATAGATAGGTAGGTGGATAGGTGGATGGATGGGCAGATAAGGTGGTAGGT GGGTCAATGGATGGATGGGTGGGTGAGTGGATAGGTGGATGGATGGATGC GTGGATGGATGGATGGATAGATAGATAAGTGGATGGGTGGATAGATGGAT AGATGTCTGAGTGGATGGATAAATAGATGTCTGAGTGGATGAATGCATTG GTGAGTGGATGGGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0106 a0010c0012t0001g0106	1	228	0.0044	414	c.446 others(429): Show c.446-976_446-975insTAGGCAGCTGGGTGGATGGGTAGATGGATG AAGTCGGGAGGGATGAGTGGTGGGTGGATGGATAGATGAATGGATGGATA GGCAAGTGGAGGGGTGGATGGGTAGGTGAATGAGTGGATAGATGGGTGGA TGCATGGATGCATGGATGGATGGATGAACGGATGGATGGATGGATGGATA AGTAGGTGGATGGGCAGATAGATAGGTAGGTGGATAGGTGGATGGATGGG CAGATAAGGTGGTAGGTGGGTCAATGGATGGATGGGTGGGTGAGTGGATA GGTGGATGGATGGATGCGTGGATGGATGGATGGATAGATAGATAAGTGGA TGGGTGGATAGATGGATAGATGTCTGAGTGGATGGATAAATAGATGTCTG AGTGGATGAATGCATTGGTGAGTGGATGGGTAGG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500175	G G	GTGGCAGT others(407): Show GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGT GATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGCAGTGATGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01515.hp1 HG00738.hp1 HG01074.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0139 a0001c0002t0003g0077 a0001c0002t0003g0183 a0001c0001t0001g0139 a0001c0002t0003g0077 a0001c0002t0003g0183	3	237	0.0127	414	c.748 others(431): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500229	G G	GTGGTGAT others(407): Show GTGGTGATGGAGGTGGCAGTGATGATGGTGGTGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAG TGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAG GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGG GGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	98	0.0102	414	c.748 others(431): Show c.748+1911_748+1912insGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGT GGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTG GTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(407): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAG TGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTG ATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGC GGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0162 a0001c0001t0009g0162	1	85	0.0118	414	c.748 others(431): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATG GAGGTGGCAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03710.hp2 HG03831.hp1 others(2): Show HG02698.hp1 HG03710.hp2 HG03831.hp1 HG04228.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	343	0.0146	414	c.18 others(425): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1767		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	334	0.0030	414	c.18 others(425): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735536	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG02809.hp1 others(10): Show HG00099.hp2 HG01516.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp2 HG03688.hp1 NA19002.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0044	13	346	0.0376	414	c.18 others(425): Show c.1861_*1862insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1766		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735537	A A	AAAAAAAA others(407): Show AAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01934.hp1 NA18960.hp2 others(2): Show HG00735.hp2 HG01934.hp1 NA18960.hp2 NA19004.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	5	351	0.0142	414	c.18 others(425): Show c.1860_*1861insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTT		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1765		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189408	T T	TATATATA others(407): Show TATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATT TTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATTTATATATATTTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATTATATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051	3	328	0.0091	414	c.-5+ others(429): Show c.-5+3189_-5+3190insCTAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATATAATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA AATATATATAAATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATAT ATATAAAATATATATAAAATAAGATTTTATATAT		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
NACA_chr12_56707427_56730299	56717787	G G	GGAGTTGC others(407): Show GGAGTTGCAGCTGGGGTTGTGGGGGCCCCTTTGGGGGATGGGGTAGCTAG ACCTCCTTTTGGGGAAGGAGGAGTTGCAGCTGGGGTTGTGGGGGCCCCTT TTGGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAAGGAGGAGTTGCAGCT GGGGTTGTGGGGGCCCCTTTTGGGGGTGGGGTAGCTAGACCTCCTTTTGG GGAGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGTGGGGTGGGG TAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGCATGGGG GCCCCTTTGGGGGATGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGT CGCAGCTGGGGGAGTGGGGGCCCCCTTGAGGGATGGGGTAGCTGGACCTC CTTTTGGGGAGGGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0027 a0013c0020t0001g0027	1	364	0.0027	414	c.374 others(423): Show c.3742_3743insTTCCCTCCCCAAAAGGAGGTCCAGCTACCCCATCCC TCAAGGGGGCCCCCACTCCCCCAGCTGCGACTCCTCCCTCCCCAAAAGGA GGCCCAGCTACCCCATCCCCCAAAGGGGCCCCCATGCCCCCAGCTGCAAC TCCTCCCTCCCCAAAAGGAGGTCTAGCTACCCCACCCCACAAAGGGGCAC CCACAACCCCAGCTGCAACTCCTCCCTCCCCAAAAGGAGGTCTAGCTACC CCACCCCCAAAAGGGGCCCCCACAACCCCAGCTGCAACTCCTCCTTCCCC AAAAGGAGGTCTAGCTACCCCACCCCCAAAAGGGGCCCCCACAACCCCAG CTGCAACTCCTCCTTCCCCAAAAGGAGGTCTAGCTACCCCATCCCCCAAA GGGGCCCCCACAACCCCAGCTGCAACTC	p.Thr others(429): Show p.Thr1247_Pro1248insLeuProSerProLysGlyGlyProAlaThr ProSerLeuLysGlyAlaProThrProProAlaAlaThrProProSerPr oLysGlyGlyProAlaThrProSerProLysGlyAlaProMetProProA laAlaThrProProSerProLysGlyGlyLeuAlaThrProProHisLys GlyAlaProThrThrProAlaAlaThrProProSerProLysGlyGlyLe uAlaThrProProProLysGlyAlaProThrThrProAlaAlaThrProP roSerProLysGlyGlyLeuAlaThrProProProLysGlyAlaProThr ThrProAlaAlaThrProProSerProLysGlyGlyLeuAlaThrProSe rProLysGlyAlaProThrThrProAlaAlaThr	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3781/6387	3742/6237	1248/2078			chr12	TogoVar
NEU4_chr2_241804193_241822413	241806652	C C	CTCCCCCC others(407): Show CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	305	0.0033	414	c.-26 others(425): Show c.-2626_-2625insTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2540		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0120 a0001c0001t0062g0120	1	53	0.0189	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT		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(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG02165.hp2 NA18986.hp2 others(2): Show HG01123.hp2 HG02165.hp2 NA18986.hp2 NA19002.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0132 a0001c0001t0133 a0001c0001t0030 a0001c0001t0132 a0001c0001t0133	a0001c0001t0030g0248 a0001c0001t0030g0283 a0001c0001t0030g0364 others(2): Show a0001c0001t0030g0248 a0001c0001t0030g0283 a0001c0001t0030g0364 a0001c0001t0132g0088 a0001c0001t0133g0087	5	57	0.0877	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCAT		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(407): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02083.hp1 others(8): Show HG01433.hp1 HG01891.hp1 HG02083.hp1 HG02738.hp2 HG06807.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19070.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0136 others(2): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138	a0001c0001t0020g0013 a0001c0001t0020g0070 a0001c0001t0020g0202 others(8): Show a0001c0001t0020g0013 a0001c0001t0020g0070 a0001c0001t0020g0202 a0001c0001t0020g0362 a0001c0001t0021g0083 a0001c0001t0021g0104 a0001c0001t0021g0134 a0001c0001t0021g0138 a0001c0001t0136g0014 a0001c0001t0137g0279 a0001c0001t0138g0056	11	63	0.1746	414	c.47 others(423): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCATCCAT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				474	INFO_REALIGN_3_PRIME	chr19	TogoVar

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