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
TPO_chr2_1408463_1548673	1422358	C C	CGCCGCGC others(486): Show CGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGT GCAGGTGCCGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACC TCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGAC CGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGTGCAGGTGCCGCGC TGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAGGCGCC GCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAG GCGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCG TGCAGGCGCCGCGCTGGACAGACCTAGTGCAGGTGCCGCGCTGGACAGAC CTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGA CTGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG06807.hp1 HG02630.hp2 HG03209.hp2 HG06807.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0019 a0002c0002 a0018c0019	a0002c0002t0001 a0002c0002t0003 a0018c0019t0004 a0002c0002t0001 a0002c0002t0003 a0018c0019t0004	a0002c0002t0001g0006 a0002c0002t0003g0053 a0018c0019t0004g0007 a0002c0002t0001g0006 a0002c0002t0003g0053 a0018c0019t0004g0007	3	130	0.0231	493	c.95- others(506): Show c.95-675_95-674insTGACCTCGTGCAGCCGCCTCTCCTGGACAGAC TTCGTGCAGGTGCCGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGAC CGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGC TGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACTTCGTGCAGGTGC CGCGCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACCGACCTCGTGCAG GCGCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCG TGCAGGCGCCGCGCTGGACTGACCTCGTGCAGCCGCCTCTCCTGGACAGA CCTCGTGCAGGCGCCGCGCTGGACAGACCTAGTGCAGGTGCCGCGCTGGA CAGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCG CTGGACTGACCTCGTGCAGGCGCCTCTCCTGGACAGACCTCGTGCAGGTG CCGCGCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(486): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATA CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATGTA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATTATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0236 a0001c0001t0009g0236	1	388	0.0026	493	c.-23 others(510): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(486): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTA TATATGTATATATACATTATACATACGTAAATGTATATATGTATATATAC ATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAA TGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATAT ACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTA AATGTATAATGTATATATACATTATACATACGTAAATGTATGTATATATA CATTATACATACGTAAATGTATTATACATAAATGTATATATGTATATATA CATGTATTATACATACATAAATGTATATATGTATATATACATGTATTATA CATACATAAATGTATATATGTATATATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18940.hp2 HG02257.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0071 a0001c0001t0003g0052 a0001c0001t0003g0071	2	388	0.0052	493	c.-23 others(510): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TXNDC16_chr14_52425596_52557505	52530417	A A	ATAATAAT others(486): Show ATAATAATATAATATATATTATTATATATTATTATATATAATAATATAAT ATATATTATTATATATTATTATATATAATAACATAATATATATTATTATA TATAATTATATATAATAATATAATATATATTATATATAATATTATATAAT AATATAATATATATTATTATATATATTATATAATAATATAATATATATTA TTATATATTATTATATATAATTATATATAATAATATAATATATATAATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATATTATTATATATAATTA TATATAATATATATATATTATTATATATAATTATATATAATAATATATAT ATTATTATATATAATTATATATAATAATATATATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	238	0.0042	493	c.392 others(510): Show c.392+6301_392+6302insATAATAATATATATATATTATTATATAT AATTATATATAATAATATATATATTATTATATATAATTATATATAATAAT ATATATATATTATATATAATTATATATAATAATATATATATTATTATATA TAATTATATATAATAATATAATATATATTATTATATATAATTATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATTATATATATTATATTATTATATATAATTAT ATATAATAATATATAATAATATATATTATATTATTATATAATATATATAA TAATATATATTATATTATTATATAATATTATATATAATATATATTATATT ATTATATATAATTATATATAATAATATATATTATGTTATTATATATAATA ATATATAATAATATATATTATATTATTATATATAATAATATATAATAATA TATATTATATTATTA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(486): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0234 a0001c0001t0040g0234	1	250	0.0040	493	c.82+ others(508): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196869	T T	TTATGTAA others(486): Show TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATATTTATGTAATATATAATATTTATATATTATATTTATG TAATATATAATATTTATATATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATA TAATATATATTTATATATTATATTTATGTAATATATAATATATATTTATA TATTATATGTATGTAATATATAATATATATTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0015 a0004c0022t0015	a0004c0022t0015g0024 a0004c0022t0015g0024	1	204	0.0049	493	c.213 others(512): Show c.2136+5861_2136+5862insCATATAATATATAAATATATATTATA TATTACATACATATAATATATAAATATATATTATATATTACATAAATATA ATATATAAATATATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATATATAAATATTATATATTACATAAATATATATAAA TATTATATATTACATAAATATATATAAATATTATATATTACATAAATATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATTATATATTACATAAATATAA TATATAAATATTATATATTACATAAATATAATATATAAATATTATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01346.hp1 others(8): Show HG00099.hp1 HG00642.hp1 HG01346.hp1 HG01433.hp2 HG02083.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 NA18947.hp2 NA19088.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0004c0004t0003	a0001c0001t0001g0031 a0001c0001t0001g0145 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0002g0045 a0001c0001t0002g0162 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0232 a0001c0001t0006g0044 a0004c0004t0003g0147	11	246	0.0447	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG01884.hp2 others(1): Show HG00609.hp2 HG01081.hp2 HG01884.hp2 NA18977.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0013 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0004 a0004c0004t0001	a0001c0001t0001g0125 a0001c0001t0013g0111 a0002c0002t0004g0110 others(1): Show a0001c0001t0001g0125 a0001c0001t0013g0111 a0002c0002t0004g0110 a0004c0004t0001g0126	4	246	0.0163	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(486): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0122 a0010c0012t0001g0122	1	246	0.0041	493	c.53- others(506): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(486): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA19079.hp2 NA18956.hp1 NA19079.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0002 a0003c0005t0003g0065 a0003c0005t0003g0002 a0003c0005t0003g0065	2	431	0.0046	493	c.14 others(504): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(486): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATATATTATATATATTATATATATTATATATATTATATATATATT ATATATATATTATATATATATAATATATATAATATATATATAATATATAT TATATATATAATATATATATATTATATATATAATATATATATTTAATATA TATATTATATATAATATATATATTATATATATAATATATATATTTAATAT ATATTATATATATAATATATATATTATATATATAATATATATTTAATATA TATATTATATATATAATATATATATTATATATATATAATATATATATTTA ATATATATAATATATATATAATATATATTATATATATAATATATATATTT AATATATATTATATATATAATATATATATTATATATATAATATATATATA ATATATATATTATATATATAATATATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0016 a0004c0009t0001g0016	1	330	0.0030	493	c.38 others(504): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT AATATATATTAAATATATATATTATATATATAATATATATTATATATATA TTATATATATTAAATATATATATTATATATATATAATATATATATTATAT ATATAATATATATATTAAATATATATTATATATATAATATATATATTATA TATATAATATATATTAAATATATATATTATATATATAATATATATATTAT ATATAATATATATATTAAATATATATATTATATATATAATATATATATAT TATATATATAATATATATTATATATATATTATATATATTATATATATATA ATATATATATAATATATATATAATATATATAATATATATAATATATATAA TATATATATATTATATATATATTATATATATTATATATATATATATAATA TATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATAATAT others(486): Show TATAATATATATATAATATATATATATTATATATATATTATATATATTAT ATATATTATATATATATTATATATATATTATATATATATAATATAATATT ATATATATAATATATATTATATATATAATATATATATATTATATATATAA TATATATATTTAATATATATATTATATATATAATATATATTATATATATA ATATATATATTTAATATATATTATATATATAATATATATATTATATATAT AATATATATATAATATATATATTATATATATTATATATATATTATATATA TATAATATATATATTTAATATATATATTATATATATAATATATATTATAT ATATAATATATATATTTAATATATATTATATATATAATATATATATTATA TATATAATATATATAAAATATATATATTATATATATAATATATATATTAT ATATATATTATATATATATTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	330	0.0030	493	c.37 others(504): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATTTTATAT ATATTATATATATAATATATATATTATATATATAATATATATTAAATATA TATATTATATATATAATATATATTATATATATAATATATATATTAAATAT ATATATTATATATATATAATATATATATAATATATATAATATATATATTA TATATATATTATATATATAATATATATATTATATATATAATATATATTAA ATATATATATTATATATATAATATATATTATATATATAATATATATATTA AATATATATATTATATATATAATATATATATATTATATATATAATATATA TTATATATATAATATTATATTATATATATATAATATATATATAATATATA TATAATATATATAATATATATAATATATATATAATATATATATATTATAT ATATATTAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(486): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01993.hp1 HG02602.hp2 others(7): Show HG01106.hp1 HG01993.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG03017.hp1 HG04228.hp1 NA18946.hp2 NA18954.hp1 NA19056.hp2	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0013	a0003c0003 a0005c0005 a0007c0007 others(1): Show a0003c0003 a0005c0005 a0007c0007 a0013c0016	a0003c0003t0002 a0005c0005t0002 a0007c0007t0002 others(1): Show a0003c0003t0002 a0005c0005t0002 a0007c0007t0002 a0013c0016t0002	a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0058 others(7): Show a0003c0003t0002g0002 a0003c0003t0002g0012 a0003c0003t0002g0058 a0003c0003t0002g0094 a0003c0003t0002g0229 a0005c0005t0002g0019 a0005c0005t0002g0089 a0007c0007t0002g0095 a0007c0007t0002g0106 a0013c0016t0002g0024	10	412	0.0243	493	c.-42 others(504): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(486): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATCACATAT ATGATATATATATCATATATCACATATATGATATATATATCATATATATC ATATGATATATATCATATATATCACATATATGATATATATCACATGTGAT ATATAGCATATATATCATGCTATACATCATATATGATATATATGATATAT ATCACGTATGCTATATAGCATATGTGATATATATGATATATATCACATAT GCTATATAGCATATGTGATATATATGATATATATCACATATGCTATATAT CATATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	350	0.0029	493	c.-36 others(504): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATCACATATATGATATATATATCATATATCACATATATGATATA TATATCATATATATCATATGATATATATCATATATATCACATATATGATA TATATCACATGTGATATATAGCATATATATCATGCTATACATCATATATG ATATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATG ATATATATCACATATGCTATATAGCATATGTGATATATATGATATATATC ACATATGCTATATATCATATGTGATATATATGATATATATCACATATGCT ATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(486): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGC TATATAGCATACGTGATATATATGATATATATCACATATGCTATATATCA TATGTGATATATATGATATATATCACATATATGATACATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02148.hp2 HG01978.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0153 a0001c0001t0002g0157	2	350	0.0057	493	c.-36 others(504): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGAT ATATATCACATATGCTATATAGCATACGTGATATATATGATATATATCAC ATATGCTATATATCATATGTGATATATATGATATATATCACATATATGAT ACATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370948	C C	CATATATG others(486): Show CATATATGATATATATCATATGTGATATATATCATATATATCACATATAT GATATATATCATATGTGATATATATCATATATATCACATATATGATATAT ATCATGTGATATATATAGCATATATATCATATGTGATATATATCATATAT ATCACATATGATATATATCATATATGTGATATATATGATATATAGCATAT ATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATAT ATATCATATGTGATATATAGCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATCATATATATCATATATCATATATCATATATAT CATATATCATATATATCATATGTGATATATATGATATATATGATATATAT GATATATATGATATATAGTGATATATATCATATATATGTGATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	350	0.0029	493	c.-35 others(504): Show c.-3524_-3523insATATATGATATATATCATATGTGATATATATCAT ATATATCACATATATGATATATATCATATGTGATATATATCATATATATC ACATATATGATATATATCATGTGATATATATAGCATATATATCATATGTG ATATATATCATATATATCACATATGATATATATCATATATGTGATATATA TGATATATAGCATATATATCATATGTGATATATAGCATATATATCATATG TGATATATAGCATATATATCATATGTGATATATAGCATATATATCATATA TCATATATATCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATATATCATATATATCATATATC ATATATCATATATATCATATATCATATATATCATATGTGATATATATGAT ATATATGATATATATGATATATATGATATATAGTGATATATATCATATAT ATGTGATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3420		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(487): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATT TTTATATTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATA TATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	306	0.0033	494	c.130 others(513): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTGATAT ATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1118482	T T	TCCCAGCG others(487): Show TCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCC GGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCA GCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGT TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCT GAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCATTATCC CTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0243 a0001c0001t0014g0243	1	337	0.0030	494	c.246 others(511): Show c.246+6700_246+6701insGAGAACTCAGGCTCAGGGATAACGCTGG GAGGAACTCAGGCTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGGTT AACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGG CTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGC TGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGG AGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATA ATGCTGGGAGGAACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCT CAGGGATAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(487): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATATATACACGTATATATACGTATACGTGTACACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0081 a0001c0001t0025g0081	1	169	0.0059	494	c.48- others(511): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACAC GTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(487): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACACGTATATACGTATACGTGTACACACACATACACGTATA TACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA CGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACACG TCTACGTGTACACACATATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0026 a0001c0001t0050g0026	1	169	0.0059	494	c.48- others(511): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTCTACGTGTACACACATATACACGTCT ACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTAC GTGTACACACATATACACGTCTACGTGTACACACATATACACGTCTACGT GTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGXT_chr2_240863824_240885500	240872453	A A	AGGAGGAG others(487): Show AGGAGGAGGGTGAGAGTTTGTGAACATGGAGGCGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGG AGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAA CATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGA GAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCG TGAACATGCAGGCGGAGGAGGGCGAGAGTTCGTGAACATGGAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02698.hp1 others(21): Show HG00558.hp1 HG02080.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0002c0013 a0002c0027 others(1): Show a0002c0003 a0002c0013 a0002c0027 a0012c0015	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(2): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0012c0015t0002 a0012c0015t0003	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(6): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0012c0015t0002g0122 a0012c0015t0003g0121	24	444	0.0541	494	c.525 others(509): Show c.525-517_525-516insTGAGAGTTTGTGAACATGGAGGCGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGG TGAGAGTTCGTGAACATGCAGGCGGAGGAGGGCGAGAGTTCGTGAACATG GAGGCGGAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	318252	C C	CCCCAATC others(487): Show CCCCAATCCTTCACCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCA TCTCCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCTCTCACCC TCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCA CCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	268	0.0037	494	c.-35 others(505): Show c.-3578_-3577insCCCAATCCTTCACCTCCCCCCTCACCCTCCACCT CCCCCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCAT CTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCGCCC TCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCC CCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTC CCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACC CTGCACCTCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3461		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(487): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAAGAGGGGGAGGGGGAGGGGGAGGGGGA AGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	301	0.0033	494	c.125 others(515): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCTTCCCCCTCCCCCTCCCCCTCCCCCTCTTC CCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC CCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTC CCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCC TCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTC CTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCC CCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(487): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	301	0.0033	494	c.125 others(515): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCC CCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTC CCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCC TCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTC CTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCC CCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGGAGGA others(487): Show GAGGAGGAGGAGCAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGG AGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAG GAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGA GGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAG GAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGA GGATGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGCAGG AGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGCAGAAGCAGCAGAAG CAGAAGCAACAGAAGAAGAAGCAGAAGCAGAAGAAGCAGAAGCGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0002 a0003c0034t0002	a0003c0034t0002g0071 a0003c0034t0002g0071	1	80	0.0125	494	c.667 others(513): Show c.667+88884_667+88885insTCGCTTCTGCTTCTTCTGCTTCTGCT TCTTCTTCTGTTGCTTCTGCTTCTGCTGCTTCTGCTGCTTCTGCTTCTGC TCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTC CTCCTGCTCCTGCTCATCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTC CTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCT CCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCC TGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCT CCTCCTGCTCCTCCTCCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(487): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGGAGGGGAGGGGAAGGTGAGGGGAGG GGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGA GTCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGG GAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAA GGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAG GGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG GGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	350	0.0029	494	c.248 others(509): Show c.2483+67_2483+68insCCCCTCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCT CCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCA CTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCCTCCCA CCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCC TCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTC CTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCACCTC others(487): Show ACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCA CCACCTCCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCTTCACCACCTCCACCTCCACCTCCACCACCTCCACCTC CACCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCT CCACCTCCACCACCTCCACCTCCACCTCCACCACCCACCACCTCCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCTCCACCACCA CCTCCACCACCACCTCCACCACCTCCACACCTCCACCACCACCACCTCCA CCTCCACCACCTCACCACCTCCACCACCACCTCCACCACCACCTCACCAC CACCTCCACCACCTCCACCACCTCCACCACCACCCACCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	296	0.0034	494	c.67 others(505): Show c.6788_*6789insAGGTGGAGGTGGGTGGTGGTGGAGGTGGTGGAGG TGGTGGAGGTGGTGGTGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGA GGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGTGGAGGTGGTGGAGGT GGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGTGG AGGTGGTGGTGGAGGTGGAGGTGGTGGGTGGTGGAGGTGGAGGTGGAGGT GGTGGAGGTGGAGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGG TGGAGGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGTGAAG GTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGT GGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGTGG TGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAG GTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687143	C C	CGAGCACT others(487): Show CGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCAC TGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTG GCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCC CACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	246	0.0041	494	c.-15 others(505): Show c.-1540_-1539insACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCC GCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1298		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687829	C C	CCCCGTGA others(487): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCAT TTCCCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCCGTGA CCATACACTGGCGGCGACCATTTCCCACCCCGTGACCACGCACTGGCGGT GAGCACTTCCCACCCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	246	0.0041	494	c.-22 others(505): Show c.-2226_-2225insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGGT GGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAATGGTCGCCG CCAGTGTATGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCA CGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1984		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(487): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCTCCCACCCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTC CACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTT CCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0248 a0002c0003t0002g0248	1	254	0.0039	494	c.39+ others(511): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCTCCCACCCCGGCTTCCATTCCTGGCCC CAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACT CCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTC CCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCAC TCCCCCTACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(487): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCCACCGCTGGTCCCAGCCT CCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTC CACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTT CCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	254	0.0039	494	c.39+ others(511): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCCACCGC TGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCC CAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACT CCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTC CCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCAC TCCCCCTACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(487): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCCACCGCTGGTCCC AGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTC CCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCA CCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCT CCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTC CACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTT CCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0180 a0001c0004t0002g0195 a0001c0002t0001g0180 a0001c0004t0002g0195	2	254	0.0079	494	c.39+ others(511): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCC ACCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCT GGCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTT CCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGC TGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCC CAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACT CCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTC CCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCAC TCCCCCTACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTTTATAT others(487): Show GTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATATA TACTATATATATAGTTTATATATATATACTATATATAGTTTATATATATA TACTATATATAGTATATATATACTATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATACTATATATATAGTTTAT ATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTATATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATATATATATACTATATATATAGTTTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	304	0.0033	494	c.331 others(513): Show c.3314-1171_3314-1170insTAAACTATATATATAGTATATATATA TATAAACTATATATATAGTATATATATATATAAACTATATATATAGTATA TATATATAAACTATATATATAGTATATATATATATAAACTATATATATAG TATATATATATAAACTATATATATAGTATATATATATATAAACTATATAT ATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATACT ATATATATAGTATATATATATAAACTATATATATAGTATATATATATAAA CTATATATATAGTATATATATAAACTATATATATAGTATATATATAAACT ATATATATAGTATATATATATAAACTATATATATAGTATATATATAGTAT ATATATACTATATATAGTATATATATATAAACTATATATAGTATATATAT ATAAACTATATATATAGTATATATAAACTATATATATAGTATATATATAT AAACTATATATATATAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTTTATAT others(487): Show GTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATATA TACTATATATATAGTTTATATATATATACTATATATAGTTTATATATATA TACTATATATAGTATATATATACTATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATACTATATATATAGTTTAT ATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATATACTATATATATAGTATATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATATACTATA TATATAGTTTATATATATATATATACTATATATATAGTTTATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATACTATATATATTTTATATATATATATACTATATATATAGTTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	304	0.0033	494	c.331 others(513): Show c.3314-1171_3314-1170insTAAACTATATATATAGTATATATATA TATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATA TATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATA TATATATATAAACTATATATATAGTATATATATATATAAACTATATATAT AGTTTATATATATATAAACTATATATATAGTTTATATATATATATACTAT ATATATAGTATATATATATATAAACTATATATATAGTATATATATATAAA CTATATATATAGTATATATATAAACTATATATATAGTATATATATAAACT ATATATATAGTATATATATATAAACTATATATATAGTATATATATAGTAT ATATATACTATATATAGTATATATATATAAACTATATATAGTATATATAT ATAAACTATATATATAGTATATATAAACTATATATATAGTATATATATAT AAACTATATATATATAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79327505	T T	TCTCCGTG others(487): Show TCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTA GCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCG TGGTTAGCGTGCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTC TCCGTGGTTAGTGTGCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAGCGT GTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGT TAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTC CATGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGC TCTCTCCATGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTA GCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCCATG GTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0165 a0005c0009t0005g0165	1	298	0.0034	494	c.177 others(513): Show c.1774-1633_1774-1632insCGTGGTTAGTGTGCTCTCTCCATGGT TAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTC CATGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGT TCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCCATGGTTAGC GTGTTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTC CGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAGCGT GCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGTT TAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCG TGGTTAGTGTGCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTC TCCGTGGTTAGCGTGCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GCCCTCCC others(487): Show GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCA GGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0202 a0002c0005t0001g0202	1	298	0.0034	494	c.202 others(511): Show c.2029-461_2029-460insCCCTCCCTGGCACCAGGCGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAG GTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCT CCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCAC CCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCAC CGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC CGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGT GCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCC CTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCC TCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29			chr18	TogoVar
BMT2_chr7_112814147_112944875	112865769	A A	ATTTCATA others(487): Show ATTTCATATATACATATATTCATATATATATTTCATATATACATATATCA TATATATTTTTCATATATATACACATATATTCATATATACTCGTATATAT TTTCATATATACATATATTCATATATACTCGTATATATTTTCATATATAC ATATATTCATATATATATTTTCATATACATATATTCATATATATATTTTC ATATACATATATTCATATATATATTTTCATATACATATATTCATATATAT TTCATATATACATATATGAAATTTTTCACATATACATATACATACATATA TATGTATATATGTACGTATATACATATGCATACATATATACGTATATATG TATGTATATGCATACATATATACGTATATATGTATGTATATACATACATA TATTCATATATATTTTTTCATATATACATATATTCATATATATATTTTCA TATATATATTCATATATATTTTCATATATATTCATTCATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02809.hp2 NA20752.hp2 HG01975.hp1 HG02809.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069	3	206	0.0146	494	c.473 others(513): Show c.473+29799_473+29800insATATATATGAATGAATATATATGAAA ATATATATGAATATATATATGAAAATATATATATGAATATATGTATATAT GAAAAAATATATATGAATATATGTATGTATATACATACATATATACGTAT ATATGTATGCATATACATACATATATACGTATATATGTATGCATATGTAT ATACGTACATATATACATATATATGTATGTATATGTATATGTGAAAAATT TCATATATGTATATATGAAATATATATGAATATATGTATATGAAAATATA TATATGAATATATGTATATGAAAATATATATATGAATATATGTATATGAA AATATATATATGAATATATGTATATATGAAAATATATACGAGTATATATG AATATATGTATATATGAAAATATATACGAGTATATATGAATATATGTGTA TATATATGAAAAATATATATGATATATGTATATATGAAATATATATATGA ATATATGTATATATGAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(487): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCGCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTC ATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0304 a0014c0012t0001g0305 a0014c0012t0001g0304 a0014c0012t0001g0305	2	326	0.0061	494	c.144 others(511): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCGCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCG CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176941	C C	CTGTATGC others(487): Show CTGTATGCATATGTATACATATCTGTATGCATATGTATACATATCTGTAT GCATATGTATACATATCTGTATGCATATGTATACATATCTGTATGCATAT GTATACATATCTGTATGCATATGTATACATATCTGTATGCATATGTATAC ATATCTGTATGCATATGTATACATATCTGTATGCATATGTATACATATCT GTATGCATATGTATACATATCTGTATGCATATGTATACATATCTGTATGC ATATGTATACATATCTGTATGCATATGTATACATATCTGTATGCATATGT ATACATATCTGTATGCATATGTATACATATCTGTATGCATATGTATACAT ATCTGTATGCATATGTATACATATCTGTATGCATATGTATACATATCTGT ATGCATATGTATACATATCTGTATGCATATGTATACATATCTGTATGCAT ATGTATACATATCTGTATGCATATGTATACATATCTGTATGCATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	342	0.0029	494	c.366 others(511): Show c.366+3803_366+3804insTATGCATACAGATATGTATACATATGCA TACAGATATGTATACATATGCATACAGATATGTATACATATGCATACAGA TATGTATACATATGCATACAGATATGTATACATATGCATACAGATATGTA TACATATGCATACAGATATGTATACATATGCATACAGATATGTATACATA TGCATACAGATATGTATACATATGCATACAGATATGTATACATATGCATA CAGATATGTATACATATGCATACAGATATGTATACATATGCATACAGATA TGTATACATATGCATACAGATATGTATACATATGCATACAGATATGTATA CATATGCATACAGATATGTATACATATGCATACAGATATGTATACATATG CATACAGATATGTATACATATGCATACAGATATGTATACATATGCATACA GATATGTATACATATGCATACAGATATGTATACATATGCATACAGATATG TATACATATGCATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(487): Show TCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	338	0.0030	494	c.300 others(511): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(487): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACACACACACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	460	0.0022	494	c.193 others(511): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACACACAC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(487): Show ACACTCACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACATACA GACACAACCACACCACACTCACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACTCACATA CAGACACAACCACACCACACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	460	0.0022	494	c.193 others(511): Show c.1938+800_1938+801insTCACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(487): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	410	0.0049	494	c.-22 others(511): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(487): Show TATATATAAATATATATATATAAATATATATAAATATATAACTATATAAA TAAATATATATAAATATATAAATATATAAAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAA TATATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAG TATATATAAATATATATAAATATATATAAATATATGCAAATATATATAAA TATATATAAATAGATATATAAATAGATATAAATAGATATAAATAGATATA TAAATACATATATAAATAGATATAAATACATATATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0032 a0001c0001t0018g0032	1	264	0.0038	494	c.181 others(513): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT TTATATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATATATTTATATATTTACATATATATTTATATATATTTTTATATATTT ATATATTTATATATATTTATTTATATAGTTATATATTTATATATATTTAT ATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(487): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01074.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0013g0140 a0001c0002t0013g0168	2	272	0.0074	494	c.925 others(509): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729704	A A	ATGCGGGC others(487): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19064.hp2 HG01099.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0005 a0001c0008t0001 a0001c0002t0005 a0001c0008t0001	a0001c0002t0005g0117 a0001c0008t0001g0087 a0001c0002t0005g0117 a0001c0008t0001g0087	2	272	0.0074	494	c.925 others(509): Show c.925-477_925-476insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729704	A A	ATGCGGGC others(487): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG02004.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016	a0001c0002t0001g0148 a0001c0002t0002g0062 a0001c0002t0016g0237 a0001c0002t0001g0148 a0001c0002t0002g0062 a0001c0002t0016g0237	3	272	0.0110	494	c.925 others(509): Show c.925-477_925-476insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729704	A A	ATGCGGGC others(487): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGGACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0002 a0001c0058t0002	a0001c0058t0002g0127 a0001c0058t0002g0127	1	272	0.0037	494	c.925 others(509): Show c.925-477_925-476insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGGACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729760	A A	ATGCGGGC others(487): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02165.hp1 HG03927.hp2 others(2): Show HG02129.hp2 HG02165.hp1 HG03927.hp2 HG04115.hp1 NA19070.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0004t0003 a0001c0008t0001 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0008t0001 a0001c0008t0003	a0001c0004t0001g0170 a0001c0004t0001g0225 a0001c0004t0003g0064 others(2): Show a0001c0004t0001g0170 a0001c0004t0001g0225 a0001c0004t0003g0064 a0001c0008t0001g0149 a0001c0008t0003g0017	5	272	0.0184	494	c.925 others(509): Show c.925-421_925-420insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729825	C C	CGGGTGTG others(487): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTTTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp1 HG02165.hp2 HG02735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0054 a0001c0005t0050 a0001c0005t0054	a0001c0005t0050g0271 a0001c0005t0054g0167 a0001c0005t0050g0271 a0001c0005t0054g0167	2	272	0.0074	494	c.925 others(509): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTTTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCAGGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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