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
YBEY_chr21_46281342_46302751	46293584	T T	TCAGCCAC others(284): Show TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	263	0.0038	291	c.339 others(308): Show c.339+2137_339+2138insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293584	T T	TCAGCCAC others(284): Show TCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	263	0.0038	291	c.339 others(308): Show c.339+2137_339+2138insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCTGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293697	C C	CGGTTAGC others(284): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	382	0.0026	291	c.339 others(308): Show c.339+2249_339+2250insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTG GTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293740	G G	GCAAGTTA others(284): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	202	0.0050	291	c.339 others(308): Show c.339+2285_339+2286insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293786	A A	ATGCCCGG others(284): Show ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCC CGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	110	0.0091	291	c.339 others(308): Show c.339+2341_339+2342insAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTC CTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294067	C C	CGGTTAGC others(284): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	396	0.0025	291	c.340 others(308): Show c.340-2081_340-2080insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTG GTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294141	C C	CGGTTAGC others(284): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	392	0.0026	291	c.340 others(308): Show c.340-2008_340-2007insCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT GGTTAGCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294156	G G	GTGCCCCG others(284): Show GTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCT CCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	327	0.0031	291	c.340 others(308): Show c.340-2001_340-2000insCGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFYVE1_chr14_72964451_73032106	73023251	T T	TTATATGT others(284): Show TTATATGTTTTATATATAATATATATTATATGTTTTATATATAATATATA TTATATGTTTTATATATAATATATATTATATGTTTTATATATAATATATA TTATATATGTTTTATATATAATATATATTATATATGTTTTATATATAATA TATATTATATATGTTTTATATATAATATATATTATATATGTTTTATATAT AATATATATTATATATGTTTTATATATAATATATATTATATATGTTTTAT ATATAATATATATTATATATGTTTTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0059 a0001c0014t0002g0059	1	288	0.0035	291	c.483 others(306): Show c.483+774_483+775insTAATATATATTATATATAAAACATATATAA TATATATTATATATAAAACATATATAATATATATTATATATAAAACATAT ATAATATATATTATATATAAAACATATATAATATATATTATATATAAAAC ATATATAATATATATTATATATAAAACATATATAATATATATTATATATA AAACATATATAATATATATTATATATAAAACATATAATATATATTATATA TAAAACATATAATATATATTATATATAAAACATATAATATATATTATATA TAAAACATATA	ZFYVE1	ENSG00000165861.14	transcript	ENST00000556143.6	protein_coding	2/11			chr14	TogoVar
ZNF227_chr19_44207532_44242268	44207719	G G	GTTTTCCC others(284): Show GTTTTCCCTTTTTGGTCTGTTTTTTTCTGGGTTGGGCCCCTTTTTTTTTT GTTTTTGTCTTTTGGCGTTGTTTGTTTTAGTTGTGGTTGTTCCCCCTGTT TTGTTTTTTTTCCGGCCCCCTTTGTTTTTGTTTTCCCTTTTTCGGGGTCT TTTTTTCCCACTTTTTCCTGTTTGCAGGTTCTATGTTAGTCCGCTCCCGG TATATAGTATTTTGTTTTGTTTTAGTTTTGTTTTTTTTTTTTTTTTTTTT TTTCTTGGTCTTCCTTTTTTTTTGCCCCGTCTTGTTTTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	291	c.-50 others(302): Show c.-5024_-5023insTTTTCCCTTTTTGGTCTGTTTTTTTCTGGGTTGG GCCCCTTTTTTTTTTGTTTTTGTCTTTTGGCGTTGTTTGTTTTAGTTGTG GTTGTTCCCCCTGTTTTGTTTTTTTTCCGGCCCCCTTTGTTTTTGTTTTC CCTTTTTCGGGGTCTTTTTTTCCCACTTTTTCCTGTTTGCAGGTTCTATG TTAGTCCGCTCCCGGTATATAGTATTTTGTTTTGTTTTAGTTTTGTTTTT TTTTTTTTTTTTTTTTTTCTTGGTCTTCCTTTTTTTTTGCCCCGTCTTGT TTTTTCC	ZNF227	ENSG00000131115.16	transcript	ENST00000313040.12	protein_coding		4812		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370882	C C	CATATATA others(284): Show CATATATATCACATATATGATATATATATCATATATCACATATATGATAT ATATATCATATATATCATATGATATATATCATATATATCATATGATATAT ATCATATATATCACATATATGATATATATCACATGTGATATATAGCATAT ATATCATGCTATACATCATATATGATATATATGATATATATCACGTATGC TATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCA TATGTGATATATATGATATATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	16	0.0625	291	c.-35 others(302): Show c.-3590_-3589insATATATATCACATATATGATATATATATCATATA TCACATATATGATATATATATCATATATATCATATGATATATATCATATA TATCATATGATATATATCATATATATCACATATATGATATATATCACATG TGATATATAGCATATATATCATGCTATACATCATATATGATATATATGAT ATATATCACGTATGCTATATAGCATATGTGATATATATGATATATATCAC ATATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTAT ATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3486		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401775	T T	TCCACCAA others(284): Show TCCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCC CGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGC ACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01257.hp1 others(10): Show HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG03098.hp1 HG03209.hp1 HG04228.hp1 NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18967.hp1 NA18993.hp1 NA19054.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0009 a0002c0021 others(2): Show a0002c0003 a0002c0009 a0002c0021 a0002c0053 a0008c0020	a0002c0003t0025 a0002c0003t0050 a0002c0003t0147 others(6): Show a0002c0003t0025 a0002c0003t0050 a0002c0003t0147 a0002c0003t0150 a0002c0003t0151 a0002c0009t0149 a0002c0021t0152 a0002c0053t0148 a0008c0020t0049	a0002c0003t0025g0010 a0002c0003t0025g0011 a0002c0003t0025g0271 others(10): Show a0002c0003t0025g0010 a0002c0003t0025g0011 a0002c0003t0025g0271 a0002c0003t0050g0013 a0002c0003t0050g0014 a0002c0003t0147g0009 a0002c0003t0150g0207 a0002c0003t0151g0120 a0002c0009t0149g0012 a0002c0021t0152g0101 a0002c0053t0148g0006 a0008c0020t0049g0005 a0008c0020t0049g0007	13	336	0.0387	291	c.181 others(312): Show c.1811-21473_1811-21472insTGGAGGGGTGCGGCGCGGGGGTGT GGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGG AGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGC GGGGGTGTGGTTGGTGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401864	C C	CCTCTCCA others(284): Show CCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCAC CCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG CCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp1 others(14): Show HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01496.hp1 HG01884.hp1 HG02145.hp1 HG02300.hp2 HG02451.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 NA18906.hp1 NA18982.hp2 NA19085.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0018	a0001c0004 a0001c0005 a0001c0025 others(6): Show a0001c0004 a0001c0005 a0001c0025 a0002c0003 a0002c0013 a0002c0021 a0003c0007 a0004c0038 a0018c0023	a0001c0004t0075 a0001c0005t0090 a0001c0025t0053 others(13): Show a0001c0004t0075 a0001c0005t0090 a0001c0025t0053 a0002c0003t0057 a0002c0003t0070 a0002c0003t0100 a0002c0013t0089 a0002c0021t0110 a0003c0007t0002 a0003c0007t0005 a0003c0007t0022 a0003c0007t0024 a0003c0007t0091 a0003c0007t0116 a0004c0038t0088 a0018c0023t0062	a0001c0004t0075g0044 a0001c0005t0090g0275 a0001c0025t0053g0183 others(14): Show a0001c0004t0075g0044 a0001c0005t0090g0275 a0001c0025t0053g0183 a0002c0003t0057g0223 a0002c0003t0070g0220 a0002c0003t0100g0107 a0002c0013t0089g0185 a0002c0021t0110g0278 a0003c0007t0002g0301 a0003c0007t0005g0188 a0003c0007t0022g0269 a0003c0007t0024g0338 a0003c0007t0024g0339 a0003c0007t0091g0111 a0003c0007t0116g0182 a0004c0038t0088g0126 a0018c0023t0062g0104	17	340	0.0500	291	c.181 others(312): Show c.1811-21562_1811-21561insATGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTG TGGTTGGTGGTGGAGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(284): Show CCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTC CACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCC ACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCATCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0017 a0002c0055t0017	a0002c0055t0017g0163 a0002c0055t0017g0163	1	275	0.0036	291	c.181 others(312): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGCTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGA GGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGG TGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1118767	G G	GTTCCTCC others(285): Show GTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGC GTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGC CTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATT GCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	166	0.0060	292	c.246 others(309): Show c.246+6415_246+6416insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(285): Show TTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCC CTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0055 a0001c0012t0055	a0001c0012t0055g0236 a0001c0012t0055g0236	1	249	0.0040	292	c.246 others(309): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(285): Show TTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCC CTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	249	0.0040	292	c.246 others(309): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289308	T T	TCTGCTCC others(285): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	278	0.0036	292	c.42 others(303): Show c.4255_*4256insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACG GGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGAC ACGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGA CGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3082		chr1	TogoVar
ADAMTS16_chr5_5135330_5325304	5305463	A A	ACACATCC others(285): Show ACACATCCCACACCACACACACACACCCCACACCACACACACACACATCC CACACCACACACACATCCCACACCACACACACACACACTTCCCACACCAC ACACACACACACTTCCCACACCAGACACACACACATCCCACACCACACAC ACACACCACACACACCACACCACAGACACACACATCCCACACCACACACC CCCCACACACACACATCCCACACCACACACAGACATCCCACACCACACAC ACACATCCCACACCACACACACACACATCCCGCACCACACACT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp1 HG03041.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0057 a0004c0009 a0001c0057 a0004c0009	a0001c0057t0001 a0004c0009t0009 a0004c0009t0040 a0001c0057t0001 a0004c0009t0009 a0004c0009t0040	a0001c0057t0001g0324 a0004c0009t0009g0134 a0004c0009t0040g0135 a0001c0057t0001g0324 a0004c0009t0009g0134 a0004c0009t0040g0135	3	209	0.0144	292	c.318 others(311): Show c.3187-1037_3187-1036insTCCCACACCACACACACACACCCCAC ACCACACACACACACATCCCACACCACACACACATCCCACACCACACACA CACACACTTCCCACACCACACACACACACACTTCCCACACCAGACACACA CACATCCCACACCACACACACACACCACACACACCACACCACAGACACAC ACATCCCACACCACACACCCCCCACACACACACATCCCACACCACACACA GACATCCCACACCACACACACACATCCCACACCACACACACACACATCCC GCACCACACACTCACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCYAP1R1_chr7_31047308_31116474	31090617	T T	TTTTTTTT others(285): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0298 a0001c0001t0062g0298	1	320	0.0031	292	c.955 others(309): Show c.955-2027_955-2026insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCC	ADCYAP1R1	ENSG00000078549.16	transcript	ENST00000304166.9	protein_coding	12/15			chr7	TogoVar
ADGRB3_chr6_68630282_69394506	69100867	A A	AAGAAGCG others(285): Show AAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAA GGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGG AAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAG GGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGAGG AAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGA AGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02809.hp1 others(5): Show HG01884.hp2 HG02109.hp2 HG02809.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0003g0061 a0001c0002t0001g0002 a0001c0002t0001g0042	8	118	0.0678	292	c.248 others(313): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGG AGGAAGGGAAGGAAGGAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(285): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0076 a0003c0003t0011g0076	1	138	0.0072	292	c.32- others(305): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49462954	G G	GATTCCTG others(285): Show GATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGATTCCTGGGTCT GAGGGAGGAGGGGCTGGGGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AAGAGGGGCTGGGGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	340	0.0029	292	c.109 others(309): Show c.1098+199_1098+200insATTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGATTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGATTCCTGGGTCTGAGGG AGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGC CTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGGGTCCAGATTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCCAGATTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGTCCA	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16			chr19	TogoVar
ANO2_chr12_5557655_5950259	5931889	T T	TAGACTAG others(285): Show TAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGA AGGCAGACGAGTGAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGA AAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACT AGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAG ACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAA GTGACTAAAAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0108 a0005c0010t0003g0108	1	160	0.0063	292	c.23- others(307): Show c.23-9086_23-9085insGTCTTCTTTCCTCACTCGTCTGCCTTCTTT CCTTTTTAGTCACTTTGTTACCAGTCTTCCTTCCTTACTAGTCTATCTTC TTTCCTCACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTC TTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCC TTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCTTTCCT CACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTT CCTTACTAGTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(285): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGTATATATAATATATATTA TATATATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02135.hp1 HG03831.hp2 others(9): Show HG02040.hp1 HG02135.hp1 HG03831.hp2 NA18941.hp1 NA18942.hp1 NA18955.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19058.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0028 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0131	12	45	0.2667	292	c.-12 others(303): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT ATATAATATATATTATATATATAATTGTATATATAATATATATTATATAT ATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(285): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATACAATTGTATATATAATATATATTA TATATATAATTATATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	292	c.-12 others(303): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATACAATTGTAT ATATAATATATATTATATATATAATTATATATATAATATATATTATATAT ATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(285): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGTATATATAATATATATTA TATATATAATTATATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp1 others(21): Show HG00558.hp2 HG00597.hp1 HG00621.hp1 HG01192.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02293.hp2 HG02572.hp1 HG02976.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18959.hp1 NA18971.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA19003.hp2 NA19058.hp1 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0033 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0193	24	57	0.4211	292	c.-12 others(303): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT ATATAATATATATTATATATATAATTATATATATAATATATATTATATAT ATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(285): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGTATATATAATATATATTA TATATATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03927.hp2 NA18995.hp1 HG03209.hp2 HG03927.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0126	3	36	0.0833	292	c.-12 others(303): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT ATATAATATATATTATATATATAATTGTATATATAATATATATTATATAT ATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(285): Show AGTAGGGGCGGCCGGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGG CTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCGCGG CTGGCCAGGCGGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	97	0.0103	292	c.-14 others(307): Show c.-14-801_-14-800insTAGGGGCGGCCGGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGGCTGACCCCTCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GGAACACA others(285): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG GGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAG GGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	229	0.0044	292	c.48 others(303): Show c.4850_*4851insTCCTCTGCCCCCATGTGTTCTCCTCTGCCCTCCA TGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCC CTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASB12_chrX_64219194_64235607	64220920	T T	TAAAAAAC others(285): Show TAAAAAACCAAGGTATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0036 a0004c0005t0001g0036	1	286	0.0035	292	c.34 others(303): Show c.3414_*3415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAATACCTT GGTTTTTT	ASB12	ENSG00000198881.10	transcript	ENST00000362002.3	protein_coding		3273		chrX	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(285): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGGGGAGAGAGGGAGGGA GGGTAAGAGAGGGAGAGAGGGAGGGGGGAGAGAGGGAGGGGAGGGAGAGA GAGGGAGAGAGGGAGGGGGGAGAAAGGGAGGGGGAGGGGGAGAGAGGGAG GGTGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	5	0.2000	292	c.479 others(309): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCCTTTCTCCCCC CTCCCTCTCTCCCTCTCTCTCCCTCCCCTCCCTCTCTCCCCCCTCCCTCT CTCCCTCTCTTACCCTCCCTCCCTCTCTCCCCCCCCTCCCTCTCCCCCTC CCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCC CCCTCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCC TCCCTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(285): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGG AGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGGAGGGAGAGGGAGGGAG GTGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGA GGGAGAGAGGGAGGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGG TGGGGGAGGGAGGGAGGGGGAGGGGAGGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	5	0.2000	292	c.479 others(309): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCCTCCCCTCCCCC TCCCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCC CCCTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCT CTCCCTCTCTTACACCTCCCTCCCTCTCCCTCCCCCCTCCCTCTCCCCCT CCCTCCCTCTCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCC CCCTCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCC TCCCTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP10A_chr15_25673712_25868327	25757861	A A	ACTCATTC others(285): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	288	0.0035	292	c.655 others(311): Show c.655-21721_655-21720insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758001	A A	ACTCATTC others(285): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0201 a0001c0047t0001g0201	1	291	0.0034	292	c.655 others(311): Show c.655-21861_655-21860insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(285): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01071.hp1 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0149 a0003c0003t0001g0150	2	281	0.0071	292	c.655 others(311): Show c.655-22113_655-22112insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758364	A A	AACTCATT others(285): Show AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	293	0.0034	292	c.655 others(311): Show c.655-22224_655-22223insAAGGGTGGAGCAGGTGGTCGGAATGA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGG TGATCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758617	A A	ATTCCGAC others(285): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0207 a0016c0024t0001g0207	1	284	0.0035	292	c.654 others(311): Show c.654+22401_654+22402insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(285): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19004.hp2 HG02647.hp2 NA19004.hp2	a0005 a0011 a0005 a0011	a0005c0005 a0011c0008 a0005c0005 a0011c0008	a0005c0005t0001 a0011c0008t0001 a0005c0005t0001 a0011c0008t0001	a0005c0005t0001g0142 a0011c0008t0001g0197 a0005c0005t0001g0142 a0011c0008t0001g0197	2	237	0.0084	292	c.654 others(311): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(285): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTA TATACGTATATACATATATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18972.hp1 HG02074.hp1 NA18972.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0020 a0001c0001 a0022c0020	a0001c0001t0002 a0022c0020t0009 a0001c0001t0002 a0022c0020t0009	a0001c0001t0002g0069 a0022c0020t0009g0094 a0001c0001t0002g0069 a0022c0020t0009g0094	2	153	0.0131	292	c.676 others(309): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACA TATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTAT ATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(285): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0095 a0002c0004t0008g0095	1	152	0.0066	292	c.676 others(309): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATATATGTATATACGTATATACA ACATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACA TATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTAT ATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0162 a0001c0006t0058g0162	1	5	0.2000	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	5	0.2000	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp1 HG01106.hp2 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0030 a0001c0004 a0001c0030	a0001c0004t0001 a0001c0030t0001 a0001c0004t0001 a0001c0030t0001	a0001c0004t0001g0107 a0001c0030t0001g0104 a0001c0004t0001g0107 a0001c0030t0001g0104	2	6	0.3333	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0095 a0001c0005t0002g0095	1	5	0.2000	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03710.hp2 NA18973.hp1 others(1): Show HG01099.hp2 HG03710.hp2 NA18973.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0002t0007 a0001c0005t0002 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0005t0002 a0002c0003t0035	a0001c0002t0001g0019 a0001c0002t0007g0111 a0001c0005t0002g0128 others(1): Show a0001c0002t0001g0019 a0001c0002t0007g0111 a0001c0005t0002g0128 a0002c0003t0035g0031	4	8	0.5000	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(285): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACCCCCTAC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0253 a0001c0002t0007g0253	1	5	0.2000	292	c.39+ others(309): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCAC CCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC CCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B4_chr1_203621832_203749081	203657871	T T	TAAAAATA others(285): Show TAAAAATATTTGTAGTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG02132.hp1 others(1): Show HG00438.hp2 HG02071.hp2 HG02132.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0005g0008 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0005g0008 a0001c0001t0006g0005	4	312	0.0128	292	c.-46 others(313): Show c.-464-24855_-464-24854insCTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATATTTGTAGTA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
BAZ2B_chr2_159313979_159621548	159501216	A A	ATATATAT others(285): Show ATATATATATTTATATATATATATAATATATATATTTTTATATATATATA TTATATATATATTTATATATATATATTATATATATATTTATATATATATA TATTATATATATTTATATATATATATATTATATATATATATATATATATA TATTATATATATATTTATATATATATATATTATATATATATTTATATATA TATATATTATATATATATTTATATATATATATATTATATATATATATTTA TATATATATATATTATATATATATTTATATATATATATATTAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	211	0.0047	292	c.-2- others(309): Show c.-2-22496_-2-22495insATAATATATATATATATAAATATATATA TAATATATATATATATAAATATATATATATAATATATATATATATAAATA TATATATAATATATATATATATAAATATATATATAATATATATATATATA AATATATATATAATATATATATATATATATATATATAATATATATATATA TAAATATATATAATATATATATATATAAATATATATATAATATATATATA TAAATATATATATAATATATATATATAAAAATATATATATTATATATATA TATAAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1441372	G G	GCCCCCCA others(285): Show GCCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCCCCCATAGTGGCCCCT CAGGTGCACCGTCCCCCCCATTAGCTACTCCTCAAGTGCACCATCCCCTC CCCCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAGCTACCCC TCAAGTGCACCGTCCACCCCATTAGCTACCCCTCAAGTGCACCGTCCCCC CATTAGCTACCCCTCAAGTGCACCATCCCCCTCATTAGCTACCCCTCAGG TGCATCATCCCCTCCTCATTAGCTGCCCCTCAAGTGCACCATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00639.hp1 HG00735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0063 a0002c0002t0005 a0001c0001t0063 a0002c0002t0005	a0001c0001t0063g0250 a0002c0002t0005g0197 a0001c0001t0063g0250 a0002c0002t0005g0197	2	335	0.0060	292	c.413 others(307): Show c.413+734_414-537dupATCCCCCCCATTAGCTGCCCCTCAAGTGCA CTGTCCCCCCATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTAGCTAC TCCTCAAGTGCACCATCCCCTCCCCCCCATTAGCTACCCCTCAAGTGCAC CGTCCACCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAGCTA CCCCTCAAGTGCACCGTCCCCCCATTAGCTACCCCTCAAGTGCACCATCC CCCTCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTGCCC CTCAAGTGCACC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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