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
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(361): Show CCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCCACCAG CCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0186 a0008c0010t0003g0186	1	370	0.0027	368	c.-10 others(379): Show c.-1039_-1038insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGTGGGGGGCACA GAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(361): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAA GGGAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0189 a0002c0009t0002g0189	1	250	0.0040	368	c.903 others(385): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TRPC4AP_chr20_34997404_35097807	35097473	A A	ACATATAC others(361): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGT GTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTAT ATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	334	0.0030	368	c.-46 others(379): Show c.-4693_-4692insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATA TACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACA CGCGTGTATATGTATATACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4667		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(361): Show TGTGTATATACATATATACACATGTGTGTATATATACACATATACACACA TGTGTGTATATACATATATACATATACACACATGTGTGTGTATATACATA TACACACATGTGTGTGTATATACATATACACACATGTGTGTGTATATACA TATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACA CGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	334	0.0030	368	c.-47 others(379): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACACACAC ATGTGTGTATATGTATATACACACACATGTGTGTATATGTATATACACAC ACATGTGTGTATATGTATATATGTATATACACACATGTGTGTATATGTGT ATATATACACACATGTGTATATATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558372	T T	TGTATACA others(361): Show TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATACGGG TATACATGTATACATGTATACATGTATACGGGTATACATGTATACATGTA TACATGTATACGGGTATACATGTATACATGTATACATGTATATGGGTATA CATGTATACATGTATATGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	252	0.0040	368	c.170 others(387): Show c.170+24961_170+24962insCCATATACATGTATACATGTATACCC ATATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGT ATACATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTAT ACATGTATACATGTATACATGTATACCCGTATACATGTATACATGTATAC ATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACAT GTATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGT ATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTAT ACATGTATACATGTATACCCGTATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(361): Show CATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACATG TATACGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTA TACATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA TGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATATGGGTATACATGTATACATGTATACATGTA TATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	252	0.0040	368	c.170 others(387): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACATGTATACCCATATACATGTATACATGTATAC ATGTATACCCATATACATGTATACATGTATACATGTATACCCATATACAT GTATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGT ATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTAT ACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATAC CCGTATACATGTATACATGTATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(361): Show CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATACATGTATACATGTATACGGGTATACATGTATATATGTATACATG TATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATATGGGTATACATGTATACATGTATACATGTA TATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0248 a0001c0002t0004g0248	1	252	0.0040	368	c.170 others(387): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACATGTATACCCATATACATGTATACATGTATAC ATGTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACAT GTATACATATATACATGTATACCCGTATACATGTATACATATATACATGT ATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTAT ACATATATACATGTATACCCGTATACATGTATACATGTATACATGTATAC CCGTATACATGTATACATATATACATGTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSPEAR_chr21_44492893_44716572	44503301	C C	CAAGGCTC others(361): Show CAAGGCTCTGGGAGGAGGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAAG GCTCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTC TGGGAGGAGGCCGGAGTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGG AGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGAAAGGCTCTGGGAGGA GGCCGGCCTTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCC GGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAG TTGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCCGGCCTCGG TGAGCCCTCGGGGGGAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp1 HG01258.hp1 others(17): Show HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02723.hp2 HG02896.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0013 others(17): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0091 a0001c0001t0003g0134 a0001c0001t0003g0196 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0224 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0287 a0001c0001t0003g0293 a0001c0001t0004g0033 a0001c0001t0004g0090 a0001c0001t0004g0204 a0001c0001t0004g0243 a0001c0001t0004g0244	20	294	0.0680	368	c.185 others(387): Show c.1856+1478_1856+1479insTCTTCCCCCCGAGGGCTCACCGAGGC CGGCTTCCTCCCAGAGCCTTGCTTCCCCCCGAGGGCTCACCAACTCCGGC CTCCTCCCAGAGCCTTGCTTCCCGCCGAGGGCTCACCGAGGCCGGCTTCC TCCCAGAGCCTTGCTTCCCCCCGAGGGCTCACCAAGGCCGGCCTCCTCCC AGAGCCTTTCTTCCCCCCGAGGGCTCACCGAGGCCGGCTTCCTCCCAGAG CCTTGCTTCCCCCCGAGGGCTCACCAACTCCGGCCTCCTCCCAGAGCCTT GCTTCCCGCCGAGGGCTCACCGAGGCCGGCTTCCTCCCAGAGCCTTGCTT CCCCCCGAGGGCTCACCAAGGCCGGCCTCCTCCCAGAGCCTT	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11			chr21	TogoVar
TUBGCP5_chr15_22994177_23044569	23042921	G G	GGGGGGAT others(361): Show GGGGGGATTTCATAACCACACCTGGCCAGAGGTGCTGGGGGGGACTTCAT AACCCCACCTGGCCAGAGGTGCTGCGGGGGACTTCATAACCACACCTGGC CAGAGGTGCCGGGAGGACTTCATAACCCCACCTGGCCAGAGGTGCTGGGG GACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCCA CCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGGCCAGAGGTG CTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCTGGGGGCAGGGGG AATTTCATAACCCTACCCGGACAGAGGTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG02559.hp1 others(3): Show HG00280.hp2 HG01175.hp1 HG02559.hp1 HG03239.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 others(3): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226	6	351	0.0171	368	c.-33 others(379): Show c.-3379_-3378insAGCACCTCTGGCCAGGTGACATTTATGAAGTCAC CCCCAGCACCTCTGTCCGGGTAGGGTTATGAAATTCCCCCTGCCCCCAGC ACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGT GGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACC CCCCAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCAGCACCTCTGG CCAGGTGGGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGGTGTGGTTAT GAAGTCCCCCGCAGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCCCCCA GCACCTCTGGCCAGGTGTGGTTATGAAATCCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3353		chr15	TogoVar
UMAD1_chr7_7635752_7884223	7679302	G G	GTTTATAG others(361): Show GTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	250	0.0040	368	c.82+ others(383): Show c.82+5859_82+5860insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATA	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(361): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATATTATATTTATGTAATATATAATATATATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATTATATTTATGTAATATATAATATATATTATATATTATATTTATGTAAT ATATAATATATATTTATATATTATATTTATGTAATATATAATATATATTT ATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTAT GTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0001 a0001c0010t0010g0001	1	204	0.0049	368	c.213 others(387): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAATATATATTATATATTACATAAATATAATATAAATA TATATTATATATTACATAAATATAATATATAAATATATATTATATATTAC ATAAATATAATATATAAATATATATTATATATTACATAAATATAATATAT ATATATTATATATTACATAAATATAATATATATATATTATATATTACATA AATATAATATATATATTATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UROS_chr10_125783586_125828258	125816856	G G	GATATCTT others(361): Show GATATCTTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	408	0.0025	368	c.-26 others(383): Show c.-26-332_-26-331insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAACATAAGATAT	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding	1/9			chr10	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(361): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	408	0.0025	368	c.53+ others(383): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(361): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	408	0.0025	368	c.53+ others(383): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(361): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	408	0.0025	368	c.53+ others(383): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(361): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	408	0.0025	368	c.53+ others(383): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR64_chr1_241647281_241807777	241674897	T T	TCCTTCTT others(361): Show TCCTTCTTTCCTCCCTTTCTCCCTCCCTCTCTTCCTTCCTTTCTTCTTCC TTCCCTCCCTCCTTCCTTCTTTCCTTCCTTTTCTCCCTCCCTCCTTCCTG CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCTTTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCT TTCCTTCCTTCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	326	0.0031	368	c.483 others(383): Show c.483+150_483+151insCCTTCTTTCCTCCCTTTCTCCCTCCCTCTC TTCCTTCCTTTCTTCTTCCTTCCCTCCCTCCTTCCTTCTTTCCTTCCTTT TCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
XG_chrX_2747040_2821500	2773489	A A	AGGAAGGA others(361): Show AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	322	0.0031	368	c.104 others(385): Show c.104-1196_104-1195insGGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773537	A A	AGGAAGGA others(361): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0034 a0001c0002t0005g0034	1	322	0.0031	368	c.104 others(385): Show c.104-1164_104-1163insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773745	A A	AGGAAGGA others(361): Show AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0004 a0001c0001t0022g0004	1	322	0.0031	368	c.104 others(383): Show c.104-959_104-958insAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAG AGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGG AAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(361): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	404	0.0025	368	c.339 others(385): Show c.339+1159_339+1160insTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292915	G G	GAGTCAGC others(361): Show GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	404	0.0025	368	c.339 others(385): Show c.339+1453_339+1454insAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46292984	C C	CTGGAGTC others(361): Show CTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGAAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	404	0.0025	368	c.339 others(385): Show c.339+1522_339+1523insTGGAGTCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293063	G G	GAGTCAGC others(361): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	404	0.0025	368	c.339 others(385): Show c.339+1601_339+1602insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293120	G G	GTGCCCGG others(361): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	404	0.0025	368	c.339 others(385): Show c.339+1675_339+1676insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCA TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293752	C C	CTAGATTA others(361): Show CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	404	0.0025	368	c.339 others(385): Show c.339+2323_339+2324insGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTGTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294620	A A	ACAGCCAC others(361): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCTGGAGT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	404	0.0025	368	c.340 others(385): Show c.340-1527_340-1526insAACTCTAGATTAAATTCCTCCCGTGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(361): Show AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGA GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	404	0.0025	368	c.340 others(385): Show c.340-1471_340-1470insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(361): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGC CACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	404	0.0025	368	c.340 others(385): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(361): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATATCAT ATGATATATATCATATATATCACATATATGATATATATCACATGTGATAT ATAGCATATATATCATGCTATACATCATATATGATATATATGATATATAT CACGTATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	350	0.0029	368	c.-36 others(379): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATATCATATGATATATATCATATATATCACATATATGATATA TATCACATGTGATATATAGCATATATATCATGCTATACATCATATATGAT ATATATGATATATATCACGTATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ABCA7_chr19_1035107_1070572	1049567	C C	CCCCCCCC others(362): Show CCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTTCCCTCCCCG TGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCC CGTGAGCCCCCCCACCACTCCCCTCCCCGTGAACCCCCCACCACTCCCTC CCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCT CCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCC CTCCCTGTGAACCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCCACCA CTCCCTCCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCC CACCACTCCCTCCCTGTGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0021 a0003c0004t0001g0021	1	30	0.0333	369	c.255 others(386): Show c.2552+136_2552+137insCACCACTCCCTCCCCGTGAGCCCCCCCA CCACTTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCC CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCCTCCCCGTGAACC CCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCC CCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAG GCCCCCCACCACTCCCTCCCTGTGAACCCCCCGGACCACTCCCTCCCCGT GAGGCCCCCCCACCACTCCCTCCCCTGTGAGCCCCCCCGGACCACTCCCT CCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3016532	A A	AGGGAATG others(362): Show AGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGGAGG AGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGGAAG GAGGGAGGAAGGGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAG GGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAG GGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAG GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGAAGGAGGGAGGGAGG AGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGA AGGGAAGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03209.hp2 NA19240.hp1 HG02647.hp2 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0001t0001g0000 a0001c0004t0001g0000	3	366	0.0082	369	c.-51 others(380): Show c.-5155_-5154insGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGG AAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGG AGGGAGGAAGGGAAGGAGGGAGGAAGGGAAGGAGGGATGGAGGAGGGAGG AAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAG GGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGG GAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGG AAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGG AGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4934		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(362): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	369	c.-10 others(380): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(362): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	369	c.-10 others(380): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADARB2_chr10_1172313_1742525	1396795	G G	GAGGCTTC others(362): Show GAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCC TGGGTCACCGTCCGTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACC ATCAGCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCGTCCGTCTC TCCCCTCCCGAGTGCAGGCTTCCTGGGTCACTGTCCTCCTCTCCCCTCCC GAGTGCAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGGAGG CTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGG TCACTGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCATCA GCCTCTCCCCTCCCGAGTGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0095 a0002c0002t0004g0095	1	106	0.0094	369	c.101 others(388): Show c.101-17636_101-17635insGCACTCGGGAGGGGAGAGGCTGATGG TGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGGAGGACAGTGACCCAGG AAGCCTGCACTCGGGAGGGGAGAGGAGGACGGTGACCCAGGAAGCCTCCG CTCGGGAGGGGAGAGACGGACGGTGACCCAGGAAGCCTGCACTCGGGAGG GGAGAGGAGGACAGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGACG GACGGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGGCTGATGGTGAC CCAGGAAGCCTCCACTCGGGAGGGGAGAGACGGACGGTGACCCAGGAAGC CTGCACTCGGGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1397514	T T	TCCTCTCC others(362): Show TCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCC CTCCCGAGTGGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGT GGAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCCGAGTGGAGGCTTC CTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCAC CATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCGTCT CTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCC CGAGTGGAGGCTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGCGCAG GCTTCCTGGGTCACCATCAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp1 others(5): Show HG01243.hp1 HG01884.hp2 HG02258.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03209.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0025 a0001c0001t0051 a0002c0002t0021	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0011g0026 a0001c0001t0012g0024 a0001c0001t0025g0036 a0001c0001t0051g0051 a0002c0002t0021g0035	8	106	0.0755	369	c.101 others(388): Show c.101-18355_101-18354insCTGATGGTGACCCAGGAAGCCTGCGC TCGGGAGGGGAGAGACGGACGGTGACCCAGGAAGCCTCCACTCGGGAGGG GAGAGACTGATGGTGACCCAGGAAGCCTGCGCTCGGGAGGGGAGAGACGG ACGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGGCTGATGGTGACC CAGGAAGCCTGCGCTCGGGAGGGGAGAGACGGACGGTGACCCAGGAAGCC TCCACTCGGGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTCCACTCGG GAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGA GACGGACGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074546	T T	TCTTCTTC others(362): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCCTTCTTCTTCCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	188	0.0053	369	c.-1- others(384): Show c.-1-5712_-1-5711insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAG AAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADSS1_chr14_104719229_104752310	104720785	C C	CGTCCTCG others(362): Show CGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATG CTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGT GGATGCTGCTGTGGACGTCTGCGTCGTCCTCCTGTGGATGCTGCTGTGGA CGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTGTGGAT GCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCATCCTCGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATG CTGCTATGGACGTCTGCGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	402	0.0025	369	c.-34 others(380): Show c.-3486_-3485insGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGT CGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATG CTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCCTGT GGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGA CGTCTGCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATG CTGCTGTGGACGTCTGCGTCATCCTCGATGCTGCTGTGGACGTCTGCGTC GTCCTCGTGTGGATGCTGCTATGGACGTCTGCGTA	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3443		chr14	TogoVar
AHRR_chr5_316714_443285	415575	T T	TGGGGCGG others(362): Show TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGC CTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCGGAGTCTGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0209 a0002c0002t0006g0209	1	268	0.0037	369	c.441 others(386): Show c.441+2142_441+2143insGGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATC TCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAA TCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCG GGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCG AATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTCTACAC others(362): Show CTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTA TGTATGCATACTCTACACATACCGTATGTATGCATACTCTACACATACCG TATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCT ACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTA TGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCG TATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCT ACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTA TGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG02451.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0017 a0001c0001t0015g0014 a0001c0001t0015g0017	2	352	0.0057	369	c.723 others(386): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACGGTATGTGTAGAGTATGCATACATACATACG GTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ARHGEF28_chr5_73621196_73946990	73806832	T T	TATATATC others(362): Show TATATATCTATATAGATATATAGTATATACCATATATAGATATATAGTAT ATATCTATATATGCCATATATAGATATCTATATATGCCATATATAGATAT CTATATATGGCATGTATAGATATCTATATATGGCATATATAGATATATAC TATATATCTATATATCTATATATGGCATATATAGATATATACTATATATC TATATATGCCATATATATATAGTATATATCTATATATGCCATATATAGAT ATATAGTATATATCTATATATGCCATATATAGATATATAGTATATATCGT ATATATGTATATATACAATATATACTATATATCGTATATATAGTATATAT ACGATATATACATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01517.hp2 HG02602.hp1 others(1): Show HG00140.hp2 HG01517.hp2 HG02602.hp1 HG04199.hp2	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0025	a0002c0002 a0007c0009 a0010c0020 others(1): Show a0002c0002 a0007c0009 a0010c0020 a0025c0033	a0002c0002t0001 a0007c0009t0002 a0010c0020t0002 others(1): Show a0002c0002t0001 a0007c0009t0002 a0010c0020t0002 a0025c0033t0007	a0002c0002t0001g0096 a0007c0009t0002g0031 a0010c0020t0002g0013 others(1): Show a0002c0002t0001g0096 a0007c0009t0002g0031 a0010c0020t0002g0013 a0025c0033t0007g0174	4	188	0.0213	369	c.102 others(390): Show c.1024+11447_1024+11448insCTATATAGATATATAGTATATACC ATATATAGATATATAGTATATATCTATATATGCCATATATAGATATCTAT ATATGCCATATATAGATATCTATATATGGCATGTATAGATATCTATATAT GGCATATATAGATATATACTATATATCTATATATCTATATATGGCATATA TAGATATATACTATATATCTATATATGCCATATATATATAGTATATATCT ATATATGCCATATATAGATATATAGTATATATCTATATATGCCATATATA GATATATAGTATATATCGTATATATGTATATATACAATATATACTATATA TCGTATATATAGTATATATACGATATATACATATATACGATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73806832	T T	TATATATC others(362): Show TATATATCTATATAGATATATAGTATATACCATATATAGATATATAGTAT ATATCTATATATGCCATATATAGATATCTATATATGCCATATATAGATAT CTATATATGGCATGTATAGATATCTATATATGGCATATATAGATATATAC TATATATCTATATATCTATATATGGCATATATAGATATATACTATATATC TATATATGCCATATATATATAGTATATATCTATATATGCCATATATAGAT ATATAGTATATATCTATATATGCCATATATAGATATATAGTATATATCGT ATATATGTATATATACGATATATACTATATATCGTATATATAGTATATAT ACGATATATACATATATACG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0004 a0029c0040t0004	a0029c0040t0004g0116 a0029c0040t0004g0116	1	188	0.0053	369	c.102 others(390): Show c.1024+11447_1024+11448insCTATATAGATATATAGTATATACC ATATATAGATATATAGTATATATCTATATATGCCATATATAGATATCTAT ATATGCCATATATAGATATCTATATATGGCATGTATAGATATCTATATAT GGCATATATAGATATATACTATATATCTATATATCTATATATGGCATATA TAGATATATACTATATATCTATATATGCCATATATATATAGTATATATCT ATATATGCCATATATAGATATATAGTATATATCTATATATGCCATATATA GATATATAGTATATATCGTATATATGTATATATACGATATATACTATATA TCGTATATATAGTATATATACGATATATACATATATACGATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73806832	T T	TATATATC others(362): Show TATATATCTATATAGATATATAGTATATACCATATATAGATATATAGTAT ATATCTATATATGCCATATATAGATATCTATATATGCCATGTATAGATAT CTATATATGGCATGTATAGATATCTATATATGGCATATATAGATATATAC TATATATCTATATATCTATATATGGCATATATAGATATATACTATATATC TATATATGCCATATATATATAGTATATATCTATATATGCCATATATAGAT ATATAGTATATATCTATATATGCCATATATAGATATATAGTATATATCGT ATATATGTATATATACAATATATACTATATATCGTATATATAGTATATAT ACGATATATACATATATACG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0018 a0002c0006t0002g0018	1	188	0.0053	369	c.102 others(390): Show c.1024+11447_1024+11448insCTATATAGATATATAGTATATACC ATATATAGATATATAGTATATATCTATATATGCCATATATAGATATCTAT ATATGCCATGTATAGATATCTATATATGGCATGTATAGATATCTATATAT GGCATATATAGATATATACTATATATCTATATATCTATATATGGCATATA TAGATATATACTATATATCTATATATGCCATATATATATAGTATATATCT ATATATGCCATATATAGATATATAGTATATATCTATATATGCCATATATA GATATATAGTATATATCGTATATATGTATATATACAATATATACTATATA TCGTATATATAGTATATATACGATATATACATATATACGATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASAP1_chr8_130047104_130448674	130050211	A A	AGAACACA others(362): Show AGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGG GGAACACGGGGGGAAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	308	0.0033	369	c.45 others(380): Show c.4519_*4520insCCCTCTTCCCCCCGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCC CTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1892		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(362): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTGTATGATATATAAATATATATATATTT GTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACATA TAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATATA AATATATATATTTGTATGACATATAAATATATATGTATGATATATAAATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	410	0.0024	369	c.671 others(386): Show c.671-1245_671-1244insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATGTCATACAAATATATATATTTATATGTC ATACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCAT ACAAATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATATTTATATATCATACAATATATATATATTTATATATCATACAAATA TATATTTATATATCATACATGTATATTTATATATCATACAAATATATATA TTTATATATCATACAAATATATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(362): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATTCATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATCATATATTATATATGATATATATATCA TATATGATATATATATTCATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT GAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0122 a0002c0001t0002g0122	1	356	0.0028	369	c.924 others(386): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATGAATATATATATCATATATGATATAT ATATCATATATAATATATGATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATGAATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP11A_chr13_112685038_112892168	112786430	G G	GTTCAGAC others(362): Show GTTCAGACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACC CAGGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGCGCCTTCCAGA TACTGCGGAACGCACGTGCCTGCGTTCAGACTCCATTTATCTTCACCGTC CTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGGACGGGCTGCACA TGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCACGTGCCTGCATTC AGACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCAGG CACACGCGTGGACGGGCTGCACATGGGGTAAACTGCGCCTTCCAGATACT GCGGAACGCACGTGCCTGCA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	254	0.0039	369	c.162 others(386): Show c.162+1183_162+1184insATTTATCTTCACCGTCCTTCAAAATGGA TGAGCTAAACCCAGGCACACGCGTGGACGGGCTGCACATGGGGTAAACTG CGCCTTCCAGATACTGCGGAACGCACGTGCCTGCGTTCAGACTCCATTTA TCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCACGCACACGCGTGGA CGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCACG TGCCTGCATTCAGACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAG CTAAACCCAGGCACACGCGTGGACGGGCTGCACATGGGGTAAACTGCGCC TTCCAGATACTGCGGAACGCACGTGCCTGCATTCAGACTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112786564	G G	GTTTATCT others(362): Show GTTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCAGGCACACGC GTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAAC GCACGTGCCTGCGTTCGGACTCCATTTATCTTCACCGTCCTTCAAAATGG ATGAGCTAAACCCAGGCACACGCGTGGACGGGCTGCACATGGGGTAAACT GTGCTTTCCAGGTAATGCGGAACGCACGTGCCTGCGTTCAGACTCCATTT ATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCAGGCACACGCGTGG ACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCAC GTGCCTGCGTTCAGACTCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0143 a0002c0003t0009g0143	1	254	0.0039	369	c.162 others(386): Show c.162+1418_162+1419insGTTCGGACTCCATTTATCTTCACCGTCC TTCAAAATGGATGAGCTAAACCCAGGCACACGCGTGGACGGGCTGCACAT GGGGTAAACTGTGCTTTCCAGGTAATGCGGAACGCACGTGCCTGCGTTCA GACTCCATTTATCTTCACCGTCCTTCAAAATGGATGAGCTAAACCCAGGC ACACGCGTGGACGGGCTGCACATGGGGTAAACTGTGCTTTCCAGGTAATG CGGAACGCACGTGCCTGCGTTCAGACTCCATTTATCTTCACCGTCCTTCA AAATGGATGAGCTAAACCCAGGCACACGCGTGGACGGGCTGCACATGGGG TAAACTGTGCTTTCCAGGTAATGCGGAACGCACGTGCCTGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	ATAGTTTA others(362): Show ATAGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATACTATATATAGTATATATATATACTATATATATAGTTTATATAT ATATACTATATATAGTATATATATACTATATATATAGTATATATATATAT ATACTATATATATAGTTTATATATATATACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATATACTATATATATAGTTTATATATATATATACTATATATATA GTTTATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATATACACTATATATATAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19240.hp1 NA20300.hp1 HG02809.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0047 a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0005g0047 a0001c0001t0012g0044 a0001c0001t0012g0046	3	304	0.0099	369	c.331 others(388): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATAAAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATATATACTATATATATAGTATATATATACTATATATAGTATATATATAT AAACTATATATATAGTATATATATATACTATATATAGTATATATATAAAC TATATATATAGTATATATATATAAACTATATATATATAAACTA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79326359	G G	GGTGTCAT others(362): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGT GTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTG TCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTG TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCT TCCCCTCACATGGTGTTAGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0150	1	298	0.0034	369	c.177 others(388): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCT GCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCC CTCCCCTCACATGGTGTTAGTGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTT AGTGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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