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
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(579): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACAACCGCCATCCACAGTCACCACATCAGACCCCACAACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	240	0.0042	586	c.228 others(605): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGA TGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(579): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0377 a0001c0007t0001g0378 a0001c0007t0001g0377 a0001c0007t0001g0378	2	277	0.0072	586	c.228 others(605): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TH_chr11_2158929_2176815	2161747	C C	CGGGACCC others(579): Show CGGGACCCCTGTCCCCGGGACCCCTGTCCCCCGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGACCCCTGTCCCCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCC CACACCCCTGTCCCCCGGACCCCTGTCCCCGGGACCCCTGTCCCCAGGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACC CCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0026 a0001c0007t0001g0026	1	380	0.0026	586	c.24 others(597): Show c.2485_*2486insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTCCTGGGGACAGGGGTCCCGGGGACAGGGGTCCGGGGGACAGGGGT GTGGGGACAGGGGTCTGAGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTCCCGGGGACAGGGGTC CC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2181		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747909	T T	TGGGAGGC others(579): Show TGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0192	1	225	0.0044	586	c.189 others(601): Show c.189-410_189-409insTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(579): Show CTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTC TCCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCC CTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCC CCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCC TCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTC TCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTC CCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	46	0.0217	586	c.-25 others(605): Show c.-25-12167_-25-12166insTCCCCCCCCTCCCCTCTCCTCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCTCCCCTACCCTCTCCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCA TCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCC CTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCC CCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP3A_chr17_18266428_18319994	18275564	A A	ATGTTAGC others(579): Show ATGTTAGCCAGGATGGTCTCGATCTCCTAACCTTGTGATCCGCCCGCCTT GGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTT TTTTTTTTGAGGTGGAGTCTGGCTCTGTCGCCTAGGCTGGAATGCAGTGG TGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTC CTGTCTCAGCCTCCCGAGAGTAGCTGGGACTACAGGGACCGACCACCATG CCCGGCTAATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAG CCAGGATGGTCTCGATCTCCTAACCTTGTGATCCGCCCGCCTTGGCCTCC CGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTTTTTTTTT TGAGGTGGAGTCTGGCTCTGTCGCCTAGGCTGGAATGCAGTGGTGCAATC TTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTCCTGTCTC AGCCTCCCGAGAGTAGCTGGGACTACAGGGACCGACCACCATGCCCGGCT AATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	385	0.0026	586	c.282 others(603): Show c.2828-585_2828-584insCAGTGAAACCCCGTCTCTACTAAAAATA CAAACAATTAGCCGGGCATGGTGGTCGGTCCCTGTAGTCCCAGCTACTCT CGGGAGGCTGAGACAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCAAGATTGCACCACTGCATTCCAGCCTAGGCGACAGAGCCAGAC TCCACCTCAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCC AGCACTTCGGGAGGCCAAGGCGGGCGGATCACAAGGTTAGGAGATCGAGA CCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAACAA TTAGCCGGGCATGGTGGTCGGTCCCTGTAGTCCCAGCTACTCTCGGGAGG CTGAGACAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC AAGATTGCACCACTGCATTCCAGCCTAGGCGACAGAGCCAGACTCCACCT CAAAAAAAAAAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTT CGGGAGGCCAAGGCGGGCGGATCACAAGGTTAGGAGATCGAGACCATCCT GGCTAACA	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	18/18			chr17	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(579): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0036 a0001c0001t0001g0052	2	167	0.0120	586	c.49 others(597): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA AC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACATA others(579): Show CATACATAAATGTATACATGTATATATACATGTATTATACATACATAAAT GTATACATGTATATATACATGTATTATACATACGTAAATGTATGTATGTA TATATACATGTATTATACATACGTAAATGTATGTATGTATATATACATGT ATTATACATACGTAAATGTATGTATGTATATATACATGTATTATACATAC GTAAATGTATGTATGTATATATACATTATACATACGTAAATGTATGTATG TATATATACATTATACATACGTAAATGTATGTATGTATATATACATTATA CATACGTAAATGTATGTATGTATATATACATTATACATACGTAAATGTAT GTATGTATATATACATTATACATACGTAAATGTATGTATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATATATGTATATATACATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATATATACATTATACATACGTAAA TGTATATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0275 a0001c0001t0010g0275	1	329	0.0030	586	c.-23 others(603): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATATACATTTACGTATGTATAATGTATATATATATACATTTACGTATG TATAATGTATATATACATATATACATTTACGTATGTATAATGTATATATA CATATATACATTTACGTATGTATAATGTATATATACATTATACATTTACG TATGTATAATGTATATATACATACATACATTTACGTATGTATAATGTATA TATACATACATACATTTACGTATGTATAATGTATATATACATACATACAT TTACGTATGTATAATGTATATATACATACATACATTTACGTATGTATAAT GTATATATACATACATACATTTACGTATGTATAATGTATATATACATACA TACATTTACGTATGTATAATACATGTATATATACATACATACATTTACGT ATGTATAATACATGTATATATACATACATACATTTACGTATGTATAATAC ATGTATATATACATACATACATTTACGTATGTATAATACATGTATATATA CATGTATACATTTATGTATGTATAATACATGTATATATACATGTATACAT TTATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437875	C C	CCCCCCAT others(579): Show CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCA CCCCTGGATTAATCCCCCACCACCCCTGGATTAATCCCCCCATCACCCCT GGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTA ATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCC CCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATACCCCATCACCCCTGGATTAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG01109.hp2 HG02280.hp1	a0001 a0001	a0001c0017 a0001c0032 a0001c0017 a0001c0032	a0001c0017t0002 a0001c0032t0002 a0001c0017t0002 a0001c0032t0002	a0001c0017t0002g0186 a0001c0032t0002g0187 a0001c0017t0002g0186 a0001c0032t0002g0187	2	276	0.0072	586	c.141 others(605): Show c.1418-5900_1418-5899insCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCACCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCAC CCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCT GGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATA CCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCA TCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACC CCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(579): Show AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCA TCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAAT CCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCC CATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCC TGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0126 a0002c0006t0002g0126	1	159	0.0063	586	c.141 others(605): Show c.1418-5657_1418-5656insCCCCCCATCACCCCTGGATTAATACC CCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCC CAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGA TTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCA TCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACC CCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAG GATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCCAT CACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCC CAGGATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(579): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATAT TTATATATTTAATTTATAAATATATATTTATATATTTAATTTATAAATAT ATATTTATATATTTAATTTATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp1 NA20129.hp1 HG02572.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032	a0001c0001t0015g0113 a0001c0001t0016g0148 a0001c0001t0032g0112 a0001c0001t0015g0113 a0001c0001t0016g0148 a0001c0001t0032g0112	3	26	0.1154	586	c.82+ others(601): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATA TATTTAATTTATAAATATATATTTATATATTTAATTTATAAATATATATT TATATATTTAATTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG TTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(579): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0247 a0001c0001t0017g0247	1	225	0.0044	586	c.82+ others(601): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(579): Show GTGATATATATCATATATATCACATATATGATATATATCATATATGTGAT ATATATCATATATATCAAATATATGATATATATCATATATGTGATATATA TCACATATGTGATATATATCATATCACATATCATATGACATATCATATCA CATATCACATATCACATATCACATATCACATATCATATGATATATATCAC ATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGATAT ATAGCATATGTGATATATATCATATATATCACATATGATATATAGCATAT GTGATATATATCATATATATCACATATGCTATATAGCATATGTGATATAT ATCATATATATCACATATGCTATATAGCATACGTGATATATATCATATAT ATCATATATGATGTATAGCATGATATATATGCTATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	253	0.0040	586	c.-35 others(597): Show c.-3503_-3502insTGATATATATCATATATATCACATATATGATATA TATCATATATGTGATATATATCATATATATCAAATATATGATATATATCA TATATGTGATATATATCACATATGTGATATATATCATATCACATATCATA TGACATATCATATCACATATCACATATCACATATCACATATCACATATCA TATGATATATATCACATGTGATATATAGCATATGTGATATATATCATATA TATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATA TGATATATAGCATATGTGATATATATCATATATATCACATATGCTATATA GCATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTG ATATATATCATATATATCATATATGATGTATAGCATGATATATATGCTAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC AC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(579): Show GTGATATATATCATATATATCACATATATGATATATATCATATATGTGAT ATATATCATATATATCAAATATATGATATATATCATATATGTGATATATA TCACATATGTGATATATATCATATCACATATCATATGACATATCATATCA CATATCACATATCACATATCACATATCACATATCATATGATATATATCAC ATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGATAT ATAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATAT GTGATATATATCATATATATCACATATGCTATATAGCATATGTGATATAT ATCATATATATCACATATGCTATATAGCATACGTGATATATATCATATAT ATCATATATGATGTATAGCATGATATATATGCTATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0005 a0001c0001t0034g0005	1	253	0.0040	586	c.-35 others(597): Show c.-3503_-3502insTGATATATATCATATATATCACATATATGATATA TATCATATATGTGATATATATCATATATATCAAATATATGATATATATCA TATATGTGATATATATCACATATGTGATATATATCATATCACATATCATA TGACATATCATATCACATATCACATATCACATATCACATATCACATATCA TATGATATATATCACATGTGATATATAGCATATGTGATATATATCATATA TATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATG TGATATATAGCATATGTGATATATATCATATATATCACATATGCTATATA GCATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTG ATATATATCATATATATCATATATGATGTATAGCATGATATATATGCTAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC AC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(580): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG ACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCT CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01978.hp2 others(1): Show HG00544.hp1 HG00544.hp2 HG01978.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0122 others(1): Show a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0122 a0001c0002t0003g0110	4	241	0.0166	587	c.361 others(606): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(580): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	238	0.0042	587	c.361 others(606): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(580): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01106.hp1 others(11): Show HG00673.hp2 HG00733.hp2 HG01106.hp1 HG01169.hp2 HG01255.hp2 HG01952.hp2 HG02083.hp2 HG02155.hp2 HG04204.hp1 NA18944.hp1 NA19005.hp2 NA19009.hp1 NA19055.hp2 NA19084.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0018c0040 a0001c0002 a0018c0040	a0001c0002t0002 a0001c0002t0003 a0018c0040t0002 a0001c0002t0002 a0001c0002t0003 a0018c0040t0002	a0001c0002t0002g0043 a0001c0002t0002g0057 a0001c0002t0002g0068 others(11): Show a0001c0002t0002g0043 a0001c0002t0002g0057 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0075 a0001c0002t0002g0087 a0001c0002t0002g0097 a0001c0002t0002g0103 a0001c0002t0002g0125 a0001c0002t0003g0032 a0001c0002t0003g0052 a0001c0002t0003g0090 a0001c0002t0003g0274 a0018c0040t0002g0099	14	251	0.0558	587	c.361 others(606): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838952	C C	CAGGGGGG others(580): Show CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACC TCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGACGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	324	0.0031	587	c.361 others(606): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31			chr10	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(580): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGT CCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA20752.hp1 HG01261.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0059 a0001c0001t0001g0134 a0001c0001t0003g0059	2	273	0.0073	587	c.61+ others(602): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGG GTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TTGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(580): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGGG GGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGG GGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0139 a0001c0001t0047g0139	1	183	0.0055	587	c.125 others(608): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCT CCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCC TCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTC CTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCC CCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCC TCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTT TCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCC TCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCC TCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALLC_chr2_3653200_3707671	3690267	C C	CCCCCTCC others(580): Show CCCCCTCCCCCTCCTCTTCCCCCTCCCCTTCCCTCCCCCCTCCCCCTCCT CTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCCTCCCCTCCC CCCCTCCCCTCCGCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0226 a0005c0007t0004g0226	1	269	0.0037	587	c.512 others(604): Show c.512-5441_512-5440insCTCCTCTTCCCCCTCCCCTTCCCTCCCC CCTCCCCCTCCTCTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCC CCCTCCCCTCCCCCCCTCCCCTCCGCCCTCCCCCTCCCCTCCCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128791	C C	CGCTCCGA others(580): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0310 a0001c0006t0002g0310	1	268	0.0037	587	c.806 others(602): Show c.806+298_806+299insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGG GTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG GCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTG CAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAG CTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGG GCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2129023	C C	CCCCACAG others(580): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0236 a0001c0004t0002g0236	1	396	0.0025	587	c.806 others(600): Show c.806+66_806+67insCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGG TGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP13A3_chr3_194397677_194492002	194421114	G G	GTGTGTAT others(580): Show GTGTGTATATATATATATATATATATATATATATTTAGTTTATATATATA GTTTATATATATATACTATATATATAGTTTATATATACTATATATATAGT TTATATATATATACTATATATAGTTTATATATATATACTATATATAGTAT ATATATACTATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATAAACTATATATATAGTTTATATATATATACTAT ATATATAGTATATATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATACTATATATATAGTATATATATATA TAAACTATATATATAGTTATATATATATAAACTATATATATAGTTTATAT ATATATATACTATATATATAGTTTATATATATATATATACTATATATATA GTTTATATATATATATACTATATATATAGTTTATATATATATACTATATA TATAGTTTATATATATATATAACTATATATATAGTTTA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	264	0.0038	587	c.331 others(606): Show c.3314-1148_3314-1147insTAAACTATATATATAGTTATATATAT ATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATATAAACTATATATA TAGTATATATATATATAAACTATATATATAGTTTATATATATATAACTAT ATATATAGTTTATATATATATATACTATATATATAGTATATATATATAAA CTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATA TATACTATATATATAGTATATATATATAAACTATATATATAGTTTATATA TATATAAACTATATATATAGTATATATATAAACTATATATATAGTATATA TATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATA TATAGTATATATATACTATATATAGTATATATATATAAACTATATATAGT ATATATATATAAACTATATATATAGTATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAAACTAAATATATATATATATATATATAT ATATATACACA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCC others(580): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCT CCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGTCTCCCCTCACGTCGTC GTCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0386 a0008c0024t0001g0386	1	345	0.0029	587	c.-22 others(604): Show c.-22-1944_-22-1943insCACGTCGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACGTCGCCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGTCGTC TCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCCCACGTCGT CGTCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(580): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCATTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCC CCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG CCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0015 a0012c0017t0001g0016 a0012c0017t0001g0015 a0012c0017t0001g0016	2	57	0.0351	587	c.-29 others(598): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAATGAGGGGGAGG GGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTG GGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(580): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	12	0.0833	587	c.-45 others(608): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTC CCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(580): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0111 a0001c0001t0022g0111	1	12	0.0833	587	c.-45 others(608): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCAC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTC CCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(580): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTATTTTTTTTTGAGATGGAGTCTCACTC TGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAACCTT CTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCAGAATAGCTGGGAC TACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0025 a0001c0001t0001g0033	2	275	0.0073	587	c.16 others(598): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTATTTTTTTTTGA GATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCA GTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTC CAGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTT GTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
DNAH17_chr17_78418697_78582396	78438452	G G	GGAGGAGG others(580): Show GGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGAGGGAGGGGGGA GGAGGGAGGAGGGGGGAGGAGGGAGGAGGGGGGAGGAGGGGGGAGGGAAG AGGGGGGAGGAGGGGGGAGGGGGGAGGGGGGAGGAGGAGGAGGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGA GGAGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGGGGAGGA GGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GGGGGAGGGGGGAGGAGGGAGGAGGGAGGAGGGGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG GAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0080 a0080	a0080c0160 a0080c0160	a0080c0160t0002 a0080c0160t0002	a0080c0160t0002g0115 a0080c0160t0002g0115	1	249	0.0040	587	c.118 others(606): Show c.11806-585_11806-584insTCCTCCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCCTCCT CCCCCCTCCCCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC CCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCC CTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCCCCCTCCCCC CTCCTCCCCCCTCTTCCCTCCCCCCTCCTCCCCCCTCCTCCCTCCTCCCC CCTCCTCCCTCCTCCCCCCTCCCTCCTCCTCCCTCCTCCCCCCTCCTCCT CCTCCCTCCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(580): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	248	0.0040	587	c.157 others(602): Show c.1576+40_1576+41insAGTCAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGAGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(580): Show TTGTGTGTGTATGGTATGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACGGCGTGTGTGTGCGTGTGTGGCGTGTGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTTGTGTGTGTATGGTGTG TTGTGGGTATGGTGTGGTGTGTGTGGGGGCTATATGGGGTGTGTGTGTAT GCTGTGGTGTATGTGTATGGTGTGTTGTGTGTGCCATGGTGTGTGTATGT AGTGTGTGGTGTGTGTATATGTGTGTGTATGGTGTGTAGCATGTGTGTAT AGTGTGTGTGCATGTGTGGTGTGTGTGGTGCGTGTGTATGATGTGTGTGT ATAGTGTGTGGAGTGTGTGTGTATTGTTGTGTGTATATGGTGTGTGGCGT GTGTGTATGGTATGTGGTGTGTGTGTATGGTGTGTGTGTGTGCATGCGGT GTGTGTAGTATGTGGCGTGTGTTTATAGTTGTGTGTATATGGTGTGTGGC GTGTGAGCATAAGGTGTGTGTGTGTGTATAGTACGGTG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	154	0.0065	587	c.497 others(604): Show c.497+9871_497+9872insATGTGTATGTAGTGTGTGGTGTGTGTAT ATTTGTATGTGTGGCGCGTGTGTGTACGGCGTGTGTGTGCGTGTGTGGCG TGTGTGGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGT TGTGTGTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTTGTGTGTGTA TGGTGTGTTGTGGGTATGGTGTGGTGTGTGTGGGGGCTATATGGGGTGTG TGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGTGTGTGCCATGGTGTG TGTATGTAGTGTGTGGTGTGTGTATATGTGTGTGTATGGTGTGTAGCATG TGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGCGTGTGTATGATG TGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTGTGTGTATATGGTGT GTGGCGTGTGTGTATGGTATGTGGTGTGTGTGTATGGTGTGTGTGTGTGC ATGCGGTGTGTGTAGTATGTGGCGTGTGTTTATAGTTGTGTGTATATGGT GTGTGGCGTGTGAGCATAAGGTGTGTGTGTGTGTATAGTACGGTGTGTGT GTGTATGGT	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132240959	C C	CTCCCTAT others(580): Show CTCCCTATACCCATTTACACACACGCCACGCCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACACCACACCCCCTTCAAGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACG CCACACACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACACATTACACACACACCACACCCCC TTCCCAGGGCCCTCCCTATCCCCATTACACACACACCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACAACACACACCCTTCCCGGGGC CCTCCCTATACACATTACACACACGCCACACCCCCTTCCCAGGGCCCTCC CTATCCCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTTACACACACGCCACACCCCCTTCCCGTGGCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp1 HG03017.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0097 a0001c0006t0001g0098	2	181	0.0110	587	c.107 others(606): Show c.1077+6950_1077+6951insAGGCCACGGGAAGGGGGTGTGGCGTG TGTGTAAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTG TAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATG TGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGGAT AGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAATGGGGATAGGGA GGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAATGTGTATAGGGAGGGCC CCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTTGAAGGGGGTGTGGTGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAAT GGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243209	C C	CTCCCTAT others(580): Show CTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCC TATACCCATTACACACACGCCACACACCCTTCCCAGAGCCGTCCCTATAC CCATTACACACACGCCACACACCCTTCCCGGGGCCATCCCTATACCCATT ACACACACGCCACACACCCTTCCCGGGGCCATCCCTATACCCATTACACA CACGCCACACACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAA CACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACAC CCCCTTCCCGGGGGGCCCTCCCTATACCCATTACACACACGCCACACCCC CTTCCCGGGGCCCTCCCTATACCCATTATACACACACCACACACCCTTCC AGGGGCCCCCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACACGCCACGGACCCTTCCCAGGGCCGTC CCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCTAT ACCCATTACACACACACCACACACCCTTCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	174	0.0057	587	c.107 others(606): Show c.1077+4700_1077+4701insCGGCCCTGGGAAGGGTGTGTGGTGTG TGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGACGGCCCTGGGAAGGGTCCGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATA GGGGGGGCCCCTGGAAGGGTGTGTGGTGTGTGTATAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTG GAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGG GTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTG TGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTGGCG TGTGTGTAATGGGTATAGGGACGGCTCTGGGAAGGGTGTGTGGCGTGTGT GTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAAT GGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(580): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTATTTTTTTTTGAGATGGAGTCTCACTC TGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAACCTT CTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCAGAATAGCTGGGAC TACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0113 a0001c0001t0005g0114	2	256	0.0078	587	c.-43 others(598): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTATTTTTTTTTGA GATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCA GTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTC CAGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTT GTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GTPBP6_chrX_299759_323796	323555	T T	TGTGTGTG others(580): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTC CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGT AGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGA TGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTG TGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCC CTGTTCATAGAGATGGAATGAGGGTGTCCCCAGGTGGTGAGCTCAGGGAC GTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCC TGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGT CCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTG TAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAG ATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0004 a0018c0030t0004	a0018c0030t0004g0143 a0018c0030t0004g0143	1	152	0.0066	587	c.-47 others(598): Show c.-4769_-4768insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACG GCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACCT GGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAG CCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACAC AAACGTCCCTGAGCTCACCACCTGGGGACACCCTCATTCCATCTCTATGA ACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACA CACACACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGAC GGCTACACACACACACACACACACACACACGTCCCTGAGCTCACCACCTG GGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGC CCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACACACA CAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4760		chrX	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(580): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTGAGACAGTC TCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACCGT AACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAAGT ACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGTTT TAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACCCCGG ACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGCCA GGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	104	0.0096	587	c.223 others(604): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAACAACACTTCTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGCT GGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGATT CACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGTTT CACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTG CCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(580): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTGAGACAGTC TCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACCGT AACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAAGT ACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGTTT TAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACCCCGG ACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGCCA GGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG03486.hp1 others(6): Show HG02280.hp1 HG02280.hp2 HG03486.hp1 NA18961.hp2 NA18962.hp1 NA18979.hp1 NA19063.hp2 NA19064.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0146	9	112	0.0804	587	c.223 others(604): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAACAACACTTCTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGCT GGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGATT CACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGTTT CACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTG CCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(580): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTGAGACAGTC TCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACCGT AACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAAGT ACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGTTT TAGTAGAGACAGGGTTTCACCAAATTGGCCAGGTTGGTCTCGAACCCCGG ACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGCCA GGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	104	0.0096	587	c.223 others(604): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAACCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAACAACACTTCTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGCT GGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGATT CACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGTTT CACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTG CCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(580): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTTGAGACAGTC TCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCACCGT AACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCAAGT ACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTAGTTT TAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACCCCGG ACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTGGCCA GGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18953.hp1 NA18960.hp2 others(3): Show HG00609.hp1 NA18953.hp1 NA18960.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0118	6	109	0.0550	587	c.223 others(604): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAACAACACTTCTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGCT GGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGATT CACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGGGTTT CACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTG CCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(580): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0076 a0001c0002t0007g0076	1	217	0.0046	587	c.174 others(606): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(580): Show TGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGA GGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGA AATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGAT GAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG02145.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0304 a0001c0005t0014g0306 a0001c0005t0014g0304 a0001c0005t0014g0306	2	107	0.0187	587	c.353 others(604): Show c.353-1253_353-1252insTGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGG AGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGG AAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGA TGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAG AGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(580): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGG ATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0035	1	160	0.0063	587	c.625 others(604): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(580): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0140 a0002c0007t0001g0140	1	82	0.0122	587	c.153 others(606): Show c.1530-3001_1530-3000insTGCACACCCATCCCGTGACACCACGC ACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACAC CCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGTGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(580): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0279 a0001c0010t0001g0279	1	190	0.0053	587	c.153 others(606): Show c.1530-3024_1530-3023insTGCACACCCATCCCGTGACACCACGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	187155	G G	GAGGGAGG others(580): Show GAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGTCACGGGAGGAACAGCGTCACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	282	0.0035	587	c.20 others(598): Show c.2042_*2043insTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGACGCTGTTCCTCCCGTGACGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1834		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(580): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATGTTTTGTAAATATATAA ATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATA TATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATA TATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATAT ATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAA TATATAATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAA ATATATACATTTTGTAACTATATAAAAATATATGTTGTAAATATATAAAA ATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATAC ATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATATATAAAT ATATACATATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02622.hp2 others(9): Show HG00639.hp2 HG02257.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0024 a0001 a0024	a0001c0008 a0024c0025 a0001c0008 a0024c0025	a0001c0008t0001 a0024c0025t0001 a0001c0008t0001 a0024c0025t0001	a0001c0008t0001g0130 a0001c0008t0001g0153 a0001c0008t0001g0233 others(9): Show a0001c0008t0001g0130 a0001c0008t0001g0153 a0001c0008t0001g0233 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0008t0001g0236 a0001c0008t0001g0237 a0001c0008t0001g0238 a0001c0008t0001g0239 a0001c0008t0001g0240 a0024c0025t0001g0241 a0024c0025t0001g0242	12	51	0.2353	587	c.197 others(606): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATAGA TTTACAAAATATGTATATATTTACAAAATATATATATTTATATATTTACA AAATATATATATTTTTATATATTTACAACATATATTTTTATATAGTTACA AAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATTTA CAAAATTATATATTTACAAAATATATATACATATTTACAAAATATATATA TTTACAAAATATATATACATATTTACAAAATATATATATTTACTATATAT ATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAAATA TATATTTATATATATTTACAATATATATTTACAAAATATATATATATTTA CAAAATATATATTTATATATTTACAAAACATATTTATATATATTTACAAA ACATATATATTTATATATATTTACAAAACATATATATTTATATATATTTA CAAAACATATATATTTATATATATTTACAAAACATATATATATTTATATA TATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAPK11_chr22_50258713_50275380	50274664	C C	CCCCCAGC others(580): Show CCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACTTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCTCCCCTCCCAGCCCCCT CCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACCC CTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTCC CCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCC CCCTCCACCTCCCGCAGCACCCCTCCCAGCCCCTTCCACCTCCCCCAGCA CCCCTCCCAACCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTCCCC CCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCC CCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAG CACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCT CCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	422	0.0024	587	c.-43 others(598): Show c.-4373_-4372insAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAG GTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGG GGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGG AGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTG CTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTGGGTTGGGA GGGGTGCTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGG AGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCT GGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTGGAAGGGGCTG GGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAG GTGGAGGGGGCTGGGAGGGGAGCTGGGGGAGGTGGAGGGGGCTGGGAGGG GTGCTGGGGGGAAGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGA GGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTG GGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4285		chr22	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(580): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GAGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGA GAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGG GGGAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGGAGGGAGAGGGG AGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGG GAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGG GGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGG GGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAG GGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0244 a0001c0003t0002g0244	1	142	0.0070	587	c.154 others(604): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCTCCCCATCCCCCTCCCCC CTCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCATC CCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCTC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCC CTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(580): Show CTATAGTGACTTAACGGAGGGCACTGTGTGTGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTGTGTGTTAT AGTGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGG CACTGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTGTGTGTTATAGT GACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGCAC CGTATGGTGCTATAGTGACTTAACGGAGGGGACCGTGTGGTGCTATAGTG ACTTAACGGAGGGCATTGTGTGTGCTATAGTGACTTAACGGAGGGCACCG TACGGTGCTATAGTGACTTAACGGAGGGCACTGTGTGTGCTAAAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGGA TGGTGCTATAGTGACTTAACGGAAGGGACCGTGTGGTGTTATAGTGACTT AACGGAGGGCACTGGATGGTGCTATAGTGACTTAACGGAGGGGACCGTGT GGTGTTATAGTGACTTAACGGAGGGCACCGTGTGGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	154	0.0065	587	c.125 others(602): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACACACA CGGTGCCCTCCGTTAAGTCACTATAGCACACACAGTGCCCTCCGTTAAGT CACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar

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