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	1273100	A A	AACCGCCA others(362): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACA CATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCCGTGACCGACTGCCATCCACAGTC ACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	83	0.0120	369	c.228 others(386): Show c.2287-821_2287-820insCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCAGTCGGTCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGA CTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(362): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	177	0.0056	369	c.-15 others(380): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
THEG_chr19_356747_381026	377605	T T	TACCCCAC others(362): Show TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCTCCCCCCGTGCCCCAC CCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	368	0.0027	369	c.-16 others(380): Show c.-1636_-1635insCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGG GAGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGG GGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1580		chr19	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GGACCCCT others(362): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	98	0.0102	369	c.23 others(380): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGGACAGGGGTC CTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMTC2_chr12_82681906_83139866	82876075	A A	ATTAGTAT others(362): Show ATTAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGG TGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTG GTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT TAGTATTCATAATTGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTG GTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGCGGTGGTGGTGGT GGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATTA GTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGT GGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	52	0.0192	369	c.654 others(388): Show c.654+18496_654+18497insTAGTATTCATAATTGTGGTGGTGGTG GTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGT AATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATTAGTATTCATAATTGTGGTGGTGGTGGT GGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAA TGGTGGTGGCGGTGGTGGTGGTGGTATTAGTAATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGG TGGTGGTATTAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNK2_chr3_195858364_195913551	195880369	A A	AAATGCCC others(362): Show AAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAG CAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCACCTAACTCA GCAGTGACCCTCGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCC CCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTAACACCCG CCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACAC CCCCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTA ACACCCCCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCT GTAACACCCCCCCCCCCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0328 a0001c0020t0002g0328	1	370	0.0027	369	c.888 others(386): Show c.888-1195_888-1194insGCTGGGGGGGGGGGTGTTACAGGGATAG ATGCTGTGTCCTCTCCGAGGGGCATTGCTGGGGGGGGGGTGTTACAGGGT TAGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGGGGTGTTACA GGGATAGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGCGGGTGTT ACAGGGTTAGATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGGGG TGTTACAGGGATAGATGCTGTGTCCTCTCCGAGGGTCACTGCTGAGTTAG GTGATACAGGGATATATGCTGTGTCCTCTTCAAGGGGCATTGCTGGGGGG GTGTTACAGGGATAGATGCTGTGTCCTCTCCAAGGGGCATT	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(362): Show CTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC AGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	369	c.48 others(380): Show c.4881_*4882insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(362): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TACATGTATTATACATACGTAAATGTATATATGTATATATACATTATACA TACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATAT ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATGTATATATACATTATACATACGTAAATGTAT TATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01943.hp2 NA19001.hp1 others(1): Show HG00673.hp1 HG01943.hp2 NA19001.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0285 a0001c0001t0001g0012 a0001c0001t0001g0285	4	33	0.1212	369	c.-23 others(386): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTATAT ATACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTA CGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATACATGTATATATACA TATATACATTTACGTATGTATAATACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF7_chr16_2150782_2183129	2165393	C C	CGTGTGAG others(362): Show CGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGT GCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGTGTGG CGCAGCCTGGTCGCATGGTTAAACGTGTGAGTGCTGCGTGGCCTGGCCTG GTCGCATGGTTTAGCGTGTTAGTGCTGCGTGGCCTGGCCTGGTCGCATGG TTAAGCGTGTGAGTGCTGTGTGGCGCAGCCTGGTCGCATGGTTAAGCGTG TGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGCGCTG CGTGGCGCGGCCTGGTCGCATGATTAAGCGTGTGAGTGCTGCGTGGCGTG GCCTGGTCGCATGGTTAAGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	318	0.0031	369	c.82- others(381): Show c.82-454_82-86dupATGGTTAAGCGTGTTAGTGCTGCGTGGCCTGGC CTGGTCGCATGGTTAAGCGTGTGAGTGCTGTGTGGCGCAGCCTGGTCGCA TGGTTAAACGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTTAGC GTGTTAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTG CTGTGTGGCGCAGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGCGTGGC CTGGCCTGGTCGCATGGTTAAGCGTGTTAGCGCTGCGTGGCGCGGCCTGG TCGCATGATTAAGCGTGTGAGTGCTGCGTGGCGTGGCCTGGTCGCATGGT TAAGTGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGC	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(362): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGATATGAT ACTATATCATCATATAACATTATGATATACTATATCATCATATAACATTA TGATATGATACTATATCATCATATAACATTATGATATGATACTATATCAT CATATAACATTATGATATGATACTATATCATCATATAACATTATGATATG ATACTATATCATAATATAAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	139	0.0072	369	c.41- others(386): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGATATACT ATATCATCATATAACATTATGATATGATACTATATCATCATATAACATTA TGATATGATACTATATCATCATATAACATTATGATATGATACTATATCAT CATATAACATTATGATATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23042398	A A	AGGGGGGA others(362): Show AGGGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGGGGGACATCATA ATCCCACCTGGCCAGAGGTGCTCTGGGGCCATCATAACCCCACTTGGCCG GAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTG CTGGGGGTGACTTCATAACTGTCACCTGGCCAGAGGTGCTGGGGGGGATT TCATAACCCCACCTGGCCAGAGGTGCTGCGGGGGATTTCATAACCACACC TGGCCAGAGGTGCCGGGAGGACTTCATAACCCCACCTGGCCAAAGGTGCT GGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAAT CCCACCTGGCCAGAGATGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	306	0.0033	369	c.-28 others(380): Show c.-2856_-2855insAGCATCTCTGGCCAGGTGGGATTATGATACCCCC CAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCAGCACCTTTGGCCA GGTGGGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGGTGTGGTTATGAA ATCCCCCGCAGCACCTCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGCA CCTCTGGCCAGGTGACAGTTATGAAGTCACCCCCAGCACCTCTGGCCAGG TGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCCGGCCAAGTGGGGT TATGATGGCCCCAGAGCACCTCTGGCCAGGTGGGATTATGATGTCCCCCA GCACCTCTGGCCAGGTGGGGTTATGATGTCCCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2830		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238902978	T T	TGTGTGTG others(362): Show TGTGTGTGATGTGGGGTGTGTGATGGGTATGTGCGTGATGTGAGGTGTGT GTGATGTGGGGTGTGTGTGATGTGTGAGGTGTGTGTGATGTGTGTGTGAT GTGGGGTGTGTGCTGTGGGGTGTGTGCTGTGGGGTATGTGCGTGATGTGA GGTGTGTGTGATGTGGGGTGTTGTGATGTGTGAGGTGTGTGTGATGTGTG TATGTGATATAGTGTGTGTGATGTGGGGTGTGTGATGGGTATGTGCGTGA TGTGAGGGGTGTGTGATGTGGGGTGTGTGATGGGTATGTGCGTGATGTGA GGTGTGTGTGATGTGGGGTGTTGTGATGTGTGAGGTGTGTGTGATGTGTG TGTGATGTGTGTGTGATGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	2	0.5000	369	c.36 others(386): Show c.36-6863_*36-6862insTGTGTGATGTGGGGTGTGTGATGGGTAT GTGCGTGATGTGAGGTGTGTGTGATGTGGGGTGTGTGTGATGTGTGAGGT GTGTGTGATGTGTGTGTGATGTGGGGTGTGTGCTGTGGGGTGTGTGCTGT GGGGTATGTGCGTGATGTGAGGTGTGTGTGATGTGGGGTGTTGTGATGTG TGAGGTGTGTGTGATGTGTGTATGTGATATAGTGTGTGTGATGTGGGGTG TGTGATGGGTATGTGCGTGATGTGAGGGGTGTGTGATGTGGGGTGTGTGA TGGGTATGTGCGTGATGTGAGGTGTGTGTGATGTGGGGTGTTGTGATGTG TGAGGTGTGTGTGATGTGTGTGTGATGTGTGTGTGATGTGG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679342	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	18	0.0556	369	c.82+ others(384): Show c.82+5890_82+5891insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679342	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	18	0.0556	369	c.82+ others(384): Show c.82+5890_82+5891insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679342	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0049 a0002c0003t0049	a0002c0003t0049g0078 a0002c0003t0049g0078	1	18	0.0556	369	c.82+ others(384): Show c.82+5890_82+5891insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	71	0.0141	369	c.82+ others(384): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG03098.hp1 others(1): Show HG00639.hp2 HG02451.hp1 HG03098.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0001t0002 a0001c0001t0013 a0001c0001t0023	a0001c0001t0002g0166 a0001c0001t0013g0006 a0001c0001t0023g0143 others(1): Show a0001c0001t0002g0166 a0001c0001t0013g0006 a0001c0001t0023g0143 a0001c0001t0023g0144	4	74	0.0541	369	c.82+ others(384): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(362): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	71	0.0141	369	c.82+ others(384): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(362): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATATATTTATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTA TGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	3	0.3333	369	c.213 others(388): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATAAAT ATATATTATATATTACATAAATATAATATATAAATATATATTATATATTA CATAAATATAATATAAATATATATTATATATTACATAAATATAATATATA AATATATATTATATATTACATAAATATAATATATATATTATATATTACAT AAATATAATATATATATTATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USPL1_chr13_30612920_30665766	30615352	T T	TAGAAATA others(362): Show TAGAAATAAGAATTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	369	c.-27 others(380): Show c.-2773_-2772insAGAAATAAGAATTTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	USPL1	ENSG00000132952.12	transcript	ENST00000255304.9	protein_coding		2567		chr13	TogoVar
VGLL4_chr3_11551069_11648915	11605159	G G	GCCCCCAC others(362): Show GCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCC ATCTTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTC TGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAAT CCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCC CCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCC CACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTC CAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTG AATTCCATCTTCCAAAGCGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	224	0.0045	369	c.83- others(384): Show c.83-3138_83-3137insGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAA TTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGCGCTTTG GAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGT GGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTG GGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGA GGATTGGGGGTGGGCGGGGGCGTGGGGCGCTTTGGAAGATGGAATTCACA GAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
YBEY_chr21_46281342_46302751	46292527	T T	TGTGCCCG others(362): Show TGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	378	0.0026	369	c.339 others(386): Show c.339+1077_339+1078insCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292548	A A	ACAGCCAC others(362): Show ACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	308	0.0032	369	c.339 others(386): Show c.339+1093_339+1094insACAAGTTAGACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGG ACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(362): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18906.hp2 NA21309.hp2 HG02486.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203	3	199	0.0151	369	c.339 others(386): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(362): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	350	0.0029	369	c.339 others(386): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292587	C C	CGGTCAGC others(362): Show CGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19000.hp2 NA19002.hp2 others(2): Show NA18983.hp2 NA19000.hp2 NA19002.hp2 NA19080.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 others(2): Show a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283	5	392	0.0128	369	c.339 others(386): Show c.339+1128_339+1129insCAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292602	G G	GTGCCCGG others(362): Show GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCCGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	285	0.0035	369	c.339 others(386): Show c.339+1157_339+1158insAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCCGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292786	A A	AACTCTAG others(362): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	333	0.0030	369	c.339 others(386): Show c.339+1344_339+1345insTTGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292957	C C	CGGTTAGC others(362): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	384	0.0026	369	c.339 others(386): Show c.339+1582_339+1583insCATGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293105	C C	CGGTTAGC others(362): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	385	0.0026	369	c.339 others(386): Show c.339+1675_339+1676insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293140	T T	TCAGCCAC others(362): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	302	0.0033	369	c.339 others(386): Show c.339+1749_339+1750insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293140	T T	TCAGCCAC others(362): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA18951.hp1 others(4): Show NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18968.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 others(4): Show a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0254 a0001c0001t0002g0259	7	308	0.0227	369	c.339 others(386): Show c.339+1685_339+1686insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293405	T T	TAGCCTGA others(362): Show TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0352 a0001c0001t0002g0352	1	399	0.0025	369	c.339 others(386): Show c.339+1953_339+1954insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293436	T T	TCAGCCAC others(362): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18959.hp2 NA18970.hp2 others(2): Show NA18957.hp2 NA18959.hp2 NA18970.hp2 NA19075.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0256 a0001c0001t0002g0291 a0001c0001t0002g0002 a0001c0001t0002g0256 a0001c0001t0002g0291	5	283	0.0177	369	c.339 others(386): Show c.339+1981_339+1982insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293510	A A	ACAGCCAC others(362): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	303	0.0066	369	c.339 others(386): Show c.339+2063_339+2064insAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293584	T T	TCAGCCAC others(362): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	263	0.0038	369	c.339 others(386): Show c.339+2129_339+2130insACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293623	C C	CGGTTAGC others(362): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	396	0.0025	369	c.339 others(386): Show c.339+2175_339+2176insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293674	G G	GACTCTAG others(362): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	220	0.0045	369	c.339 others(386): Show c.339+2267_339+2268insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293732	T T	TCAGCCAC others(362): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	298	0.0034	369	c.339 others(386): Show c.339+2277_339+2278insACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294340	A A	AACTCTAG others(362): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	286	0.0035	369	c.340 others(386): Show c.340-1767_340-1766insAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(362): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCG TGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTG GGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGG AGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18965.hp2 NA18980.hp1 others(1): Show NA18953.hp1 NA18965.hp2 NA18980.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	4	128	0.0313	369	c.-41 others(380): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGAAAGAGAGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTG GGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGG GAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(362): Show CATATGTGATATATAGCATATATATCATATGTGATATATGGCATATATAT CATATGTGATATATATGGTATATATGACATATATCATATATGATATATAT CATATGTGATATATGATATATATGACATATATCATATGTGATATATATGA TATATATCATATATGATATATATCATATATGATATATGATATATATCATA TATGATATATATCATATATGATATATGATATATATCATATATATCATATA TATCACATATATATGATATATATCATATATATCACATATATATGATATAT ATCATATATATCACATATATATGATATATATCACATATATATCATATATA TCATATATATCACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0023 a0003c0003t0009g0023	1	223	0.0045	369	c.-34 others(380): Show c.-3494_-3493insATATGTGATATATAGCATATATATCATATGTGAT ATATGGCATATATATCATATGTGATATATATGGTATATATGACATATATC ATATATGATATATATCATATGTGATATATGATATATATGACATATATCAT ATGTGATATATATGATATATATCATATATGATATATATCATATATGATAT ATGATATATATCATATATGATATATATCATATATGATATATGATATATAT CATATATATCATATATATCACATATATATGATATATATCATATATATCAC ATATATATGATATATATCATATATATCACATATATATGATATATATCACA TATATATCATATATATCATATATATCACATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(362): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTCTATACTATATAGTATATATAGTACTATAGTATCTAGATACTATAT ATACTATATATACTATATAAGTATACTTTTATAGTATATATAGATACTAC ATATAGTATCTATATCTATATATGTCTAAGATATATCATATCTATATAAG TATACTTATATAGTATATATAGATACTATAGTATACTTATATATAGATAC TATAGTATACTTATATAAGTATACTTATATAGATATGTGATATATCTTAG ACATATATAGATACTATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 NA19240.hp2 HG02109.hp1 HG02280.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0099 a0001c0001t0019g0028 a0001c0001t0019g0099	3	241	0.0124	369	c.233 others(384): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTCTATACTATATAGTATATATAGTACTATAG TATCTAGATACTATATATACTATATATACTATATAAGTATACTTTTATAG TATATATAGATACTACATATAGTATCTATATCTATATATGTCTAAGATAT ATCATATCTATATAAGTATACTTATATAGTATATATAGATACTATAGTAT ACTTATATATAGATACTATAGTATACTTATATAAGTATACTTATATAGAT ATGTGATATATCTTAGACATATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF511_chr10_133303914_133318161	133318014	C C	CCCCCCCC others(362): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAG ATGGAAAGACCACACACCCCCCCCCAGACACAGAGATGGAAAGACCACAC ACCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAG ATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACACC TCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCCAGACA CAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACA CACCCCCCCCCCCCCAGACACAGAGATGAAGACCACACCTCCCCCCAGAC ACAGAGATGGAAAGACCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	280	0.0036	369	c.51 others(380): Show c.5148_*5149insCCCCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCCAGACACAGAG ATGGAAAGACCACACACCCCCCCCAGACACAGAGATGGAAAGACCACACA CCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGA TGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACAGA GATGGAAAGACCACACACCCCCCCCCCCCCAGACACAGAGATGAAGACCA CACCTCCCCCCAGACACAGAGATGGAAAGACCACA	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4854		chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(363): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	255	0.0039	370	c.52 others(381): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735707	G G	GGGGGCGG others(363): Show GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	270	0.0037	370	c.62 others(381): Show c.6275_*6276insGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4119		chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774688	T T	TTCTTTCT others(363): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0021 a0001c0009t0021	a0001c0009t0021g0008 a0001c0009t0021g0008	1	209	0.0048	370	c.32- others(383): Show c.32-383_32-382insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(363): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGGCCA GCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	156	0.0064	370	c.589 others(385): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCC TCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCT GCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGT CCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCT ACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGG CCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCC TCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTG CCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(363): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCATCTTTTACCTCCCCCTCACCCT GCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTG CACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCC CTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0179 a0005c0005t0014g0179	1	92	0.0109	370	c.-37 others(381): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCATCTTTTA CCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(363): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT CACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCT CCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCT GCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTG CACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCC CTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	92	0.0109	370	c.-37 others(381): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCC CCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTAC CTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar

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