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
AHRR_chr5_316714_443285	391377	C C	CGCAGGGC others(189): Show CGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	208	0.0048	196	c.351 others(215): Show c.351+14708_351+14709insACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391377	C C	CGCAGGGC others(189): Show CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG GCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18966.hp2 NA19000.hp1 HG00621.hp1 NA18966.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132	3	210	0.0143	196	c.351 others(215): Show c.351+14670_351+14671insTGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCATGGGGGCAGGGCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391436	G G	GGAGGGCG others(189): Show GGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAG GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGG AGGGCGCAGGGCGAGGCGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGA GGGCGCAGGGCGAGGCGGGGCCAGAGCGTGCACGGACGCAGGGCGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01517.hp1 HG01928.hp1 others(1): Show HG01243.hp2 HG01517.hp1 HG01928.hp1 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0016 a0003c0004t0004 a0003c0004t0016	a0003c0004t0004g0004 a0003c0004t0004g0008 a0003c0004t0004g0011 others(1): Show a0003c0004t0004g0004 a0003c0004t0004g0008 a0003c0004t0004g0011 a0003c0004t0016g0001	4	258	0.0155	196	c.351 others(215): Show c.351+14721_351+14722insAGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCGGGGCCAGAGC GTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCGGGGCCAGAGCG TGCACGGACGCAGGGCGATG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391476	G G	GCAGGGCG others(189): Show GCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGG CAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGC AGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGACA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0251 a0001c0001t0057g0251	1	250	0.0040	196	c.351 others(215): Show c.351+14770_351+14771insAGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGC GTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCACGGACACAGGGCGAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGGGGCA others(189): Show CGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATG GGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGG ACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19012.hp2 NA18946.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0039 a0001c0001t0002g0044	2	208	0.0096	196	c.351 others(215): Show c.351+14868_351+14869insCGGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAG CGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGC GTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCATGGGGGCAGGGCGAGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132822280	T T	TATATGTG others(189): Show TATATGTGTATGTATATACAAATATATACATATGTGTATGTATATACAAA TATATACATATGTGTATGTATATACAAATATATACATATGTGTATGTATA TACAAATATATACATATGTGTATGTATATACAAATATATACATATGTGTA TGTATATACAAATATATACATATGTGTATGTATATACAAATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	262	0.0038	196	c.889 others(211): Show c.889+924_889+925insGTATATATTTGTATATACATACACATATGT ATATATTTGTATATACATACACATATGTATATATTTGTATATACATACAC ATATGTATATATTTGTATATACATACACATATGTATATATTTGTATATAC ATACACATATGTATATATTTGTATATACATACACATATGTATATATTTGT ATATACATACACATAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AP3D1_chr19_2095988_2156566	2128712	C C	CGCTCCGA others(189): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0358 a0001c0001t0003g0358	1	252	0.0040	196	c.806 others(211): Show c.806+377_806+378insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128943	C C	CCCCACAG others(189): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	392	0.0026	196	c.806 others(211): Show c.806+146_806+147insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(189): Show CGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	196	0.0051	196	c.806 others(210): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCAGCTCCACGGG GTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOA4_chr11_116815700_116828304	116818535	A A	AATATATA others(189): Show AATATATATATGAATATATATATGAATATATATGAATATATATATGAATT ATATATGAATATATATATGAATATATATGAATATATATATGAATTATATA TGAATATATATATGAATATATATATGAATATATATGAATATATATATGAA TTATATATGAATATATATATGAATATATATATGAATTATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18973.hp2 NA18965.hp1 NA18973.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	2	427	0.0047	196	c.23 others(207): Show c.2331_*2332insATTCATATATAATTCATATATATATTCATATATA TATTCATATATAATTCATATATATATTCATATATATTCATATATATATTC ATATATATATTCATATATAATTCATATATATATTCATATATATTCATATA TATATTCATATATAATTCATATATATATTCATATATATTCATATATATAT TCATATATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2164		chr11	TogoVar
ARHGAP42_chr11_100682288_100998941	100779542	A A	ATATATAT others(189): Show ATATATATACGTATACATACGTATATATACGTATATATATACGTATACAT ACGTATATATACGTATATATATACGTATACATACGTATATATATACGTAT ATATATACGTATACATACGTATATATATACGTATATATATACGTATACAT ACGTATATATATACGTATATATATACGTATACATACGTATATATACG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	169	0.0059	196	c.250 others(213): Show c.250+9113_250+9114insGTATACATACGTATATATACGTATATAT ATACGTATACATACGTATATATACGTATATATATACGTATACATACGTAT ATATATACGTATATATATACGTATACATACGTATATATATACGTATATAT ATACGTATACATACGTATATATATACGTATATATATACGTATACATACGT ATATATACGTATATATAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGDIG_chr16_275591_288010	285937	C C	CCCCAACC others(189): Show CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	390	0.0026	196	c.31 others(207): Show c.3123_*3124insCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAA CCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2928		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1953145	G G	GTTTTATA others(189): Show GTTTTATATTGTGAAGAAGGAAGCCGGGATCTCCGTCATTCCTTTCTGTA TTTTATGTTGTGAAGAAGGAAGCCGGGATCTCCGTCGTTCCTTTCTGTAT TTTATATTGTGAAGAAGGAAGCCGGGATCTCCGTCATTCCTTTCTGTATT TTATGTTGTGAAGAAGGAAGCCGGGATCTCCGTCGTTCCTTTCTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0167 a0001c0005t0016g0167	1	362	0.0028	196	c.352 others(213): Show c.3520+325_3520+520dupATTGTGAAGAAGGAAGCCGGGATCTCCG TCATTCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCCGGGATCTCCGT CGTTCCTTTCTGTATTTTATATTGTGAAGAAGGAAGCCGGGATCTCCGTC ATTCCTTTCTGTATTTTATGTTGTGAAGAAGGAAGCCGGGATCTCCGTCG TTCCTTTCTGTATTTTAT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221453	A A	ATCTATAT others(189): Show ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAT AGATATATATAGACATATATATCTATATAGATATCTATATATATATC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	230	0.0043	196	c.670 others(213): Show c.670+3574_670+3575insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATATAGATATATATAGACATATATATCTATATAG ATATCTATATATATATCT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(189): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	192	0.0052	196	c.102 others(213): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASCL3_chr11_8932578_8948016	8936601	G G	GCCGGCTA others(189): Show GCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	433	0.0023	196	c.10 others(207): Show c.1014_*1015insGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAA AAAATTAGCCGG	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding		976		chr11	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(189): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0036 a0003c0004t0004g0036	1	28	0.0357	196	c.924 others(213): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10A_chr15_25673712_25868327	25758292	C C	CCACCTGC others(189): Show CCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0262 a0001c0001t0001g0264	2	237	0.0084	196	c.655 others(215): Show c.655-22152_655-22151insATAGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGAAT GAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758572	C C	CCACCTGC others(189): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	240	0.0042	196	c.655 others(215): Show c.655-22432_655-22431insATCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758861	C C	CCTAACTC others(189): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0001 a0004c0058t0001	a0004c0058t0001g0051 a0004c0058t0001g0051	1	263	0.0038	196	c.654 others(215): Show c.654+22157_654+22158insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(189): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACATATATAAATATATGTTGTATATACGTATATAC ATATATAAATATATGTTGTATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01099.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0009 a0001c0001t0002g0010	2	153	0.0131	196	c.676 others(213): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATAGTATATAC GTATATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATATTTA others(189): Show TATATTTATATATGATATATATCATATATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATATATTTATATATGATATATAT CATATATATTTATATATGATATATATCATATATATTTATATATGATATAT ATCATATTTATATATGATATATATCATATTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	230	0.0043	196	c.29- others(213): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATAAATATGATATATATCATATATAAATATATATGATATATA TCATATATAAATATATATGATATATATCATATATAAATATATATGATATA TATCATATATAAATATATATGATATATATCATATATAAATATATATGATA TATATCATATATAAATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATXN7L1_chr7_105599772_105881599	105733665	T T	TCCATCCA others(189): Show TCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATC CATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCA TCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATC CATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01081.hp2 others(4): Show HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01243.hp2 HG01433.hp1 HG02148.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022	a0001c0001t0003g0239 a0001c0001t0004g0084 a0001c0001t0004g0198 others(4): Show a0001c0001t0003g0239 a0001c0001t0004g0084 a0001c0001t0004g0198 a0001c0001t0012g0244 a0001c0001t0015g0194 a0001c0001t0017g0040 a0001c0001t0022g0234	7	101	0.0693	196	c.355 others(215): Show c.355+54938_355+54939insGTGGATGGATGAATGGATGGATGGAT GGATGGATGGATGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGG ATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGT GGATGGATGGGTGGATGGATGGATGGGTGGATGGATGAATGGATGGATGG GTGGATGGGTGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733681	C C	CCCATCCA others(189): Show CCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACC CATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCA TCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATC CATCCATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp2 HG02896.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0026 a0002c0002t0017 a0002c0002t0026	a0002c0002t0017g0221 a0002c0002t0026g0208 a0002c0002t0017g0221 a0002c0002t0026g0208	2	4	0.5000	196	c.355 others(215): Show c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT GAATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATGG GTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGAT GGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGA ATGGATGGATGGGTGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AVL9_chr7_32490489_32593726	32579576	A A	ATATATAT others(189): Show ATATATATAATATATTATATTATATATTATATATTATATATATAATATAT TATATTATATATTATATATTATATATATAATATATTATATTATATATTAT ATATATAATATATTATATTATATATTATGTATATAATATATTATATTATA TATTATGTATATAATATATTATATTATATATTATGTATATAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0123 a0001c0004t0025g0123	1	273	0.0037	196	c.168 others(213): Show c.1689-638_1689-637insATAATATATTATATTATATATTATATAT TATATATATAATATATTATATTATATATTATATATTATATATATAATATA TTATATTATATATTATATATATAATATATTATATTATATATTATGTATAT AATATATTATATTATATATTATGTATATAATATATTATATTATATATTAT GTATATAATATATTATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACC others(189): Show CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0082 a0001c0004t0042g0082	1	329	0.0030	196	c.21 others(207): Show c.2184_*2185insAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGG AGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGG GGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGT TGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGG GTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(189): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	196	c.36 others(207): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(189): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	223	0.0045	196	c.36 others(207): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(189): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	196	c.36 others(207): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(189): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGAGGGGGAGGGGGAAGGAGAGG GGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG AGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGA CTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	2	0.5000	196	c.51+ others(209): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCTCCCTCCCCCTC CCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BEAN1_chr16_66422295_66487833	66474618	A A	AAGGGAGG others(189): Show AAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGA GGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGA GGGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	32	0.0313	196	c.290 others(213): Show c.290-2920_290-2919insAGAGGGAGGGAGAGAGGGAGGGAGAGAG GGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAG GGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BPHL_chr6_3113711_3158578	3146558	G G	GGAGTGCT others(189): Show GGAGTGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGG GTCGGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGT TTGGGTCGGAGTGCTGGTTTGGGGTGGAGTGCTGGTTCGGGGTGGAGTGC TGGTTTGGGTTTGAATGCTGGTACGGGGTGGAGTGCTGGTTCGGGTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	235	0.0043	196	c.789 others(213): Show c.789-5929_789-5928insAGTGCTGGTTCGGGGTGGAGTGCTGGTT TGGGTCGAGTGCTGGTTTGGGTCGGAGTGCTGGTTCGGGTTGGAGTGCTG GTTCCAGCTGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGGTGGAGT GCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGCTGGTACGGGGTG GAGTGCTGGTTCGGGTTG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(189): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATATATTATATATATATTATATATATATAAT ATATATATTATATATATATATATTATATATATATTATATATATATAATAT ATATATTATATATATATATATTATATATATATTATATATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	179	0.0056	196	c.50 others(207): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATATATTATATATATA TTATATATATATAATATATATATTATATATATATATATTATATATATATT ATATATATATAATATATATATTATATATATATATATTATATATATATTAT ATATATATAATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
C10orf90_chr10_126419997_126675693	126564850	T T	TCTATATT others(189): Show TCTATATTATAATATAGATATATATTATATATAATATATAAAATATAAAA TATATATTATATATTATATATAATATAAAATATATATTATATATAATATA TAAAATATAAAATATATAATATATAATATATAAAATATAAAATATATATT ATATATAATATATAAAATATAAAATATATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 NA20129.hp1 HG02559.hp2 HG03516.hp1 NA20129.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0003 a0007c0010t0001 a0007c0010t0003	a0007c0010t0001g0019 a0007c0010t0001g0164 a0007c0010t0003g0152 a0007c0010t0001g0019 a0007c0010t0001g0164 a0007c0010t0003g0152	3	201	0.0149	196	c.314 others(215): Show c.314-50912_314-50911insTTATATATTATATATAATATATATTT TATATTTTATATATTATATATAATATATATTTTATATTTTATATATTATA TATTATATATTTTATATTTTATATATTATATATAATATATATTTTATATT ATATATAATATATAATATATATTTTATATTTTATATATTATATATAATAT ATATCTATATTATAATATAG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(189): Show ATATGTAATATAATATTTATATTACATATTATGTAATATAATATTTATAT TACATATTATGTAATATAATATTTATATTACATAATATGTAATATAATAT TTATATTACATATTATGTAATATAATATTTATATTACATAATATGTAATA TAATATTTATATTACATATTATGTAATATAATATTTATATTACATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0154 a0002c0004t0006g0154	1	164	0.0061	196	c.314 others(215): Show c.314-51209_314-51208insATATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATATTATGTAATATAAATATTAT ATTACATAATATGTAATATAAATATTATATTACATATTATGTAATATAAA TATTATATTACATAATATGTAATATAAATATTATATTACATAATATGTAA TATAAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565152	T T	TAATATAA others(189): Show TAATATAATATTTATATTACATATTATGGAATATAATATTTATATTACAT ATTATGGAATATAATATTTATATTACATATTATGGAATATAATAATTATA TTACATATTATGGAATATAATAATTATATTACATATTATGGAATATAATA TTTATATTACATATTATGGAATATAATATTTATATTACATATTATGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0019 a0007c0010t0001g0164 a0007c0010t0001g0019 a0007c0010t0001g0164	2	215	0.0093	196	c.314 others(215): Show c.314-51214_314-51213insCCATAATATGTAATATAAATATTATA TTCCATAATATGTAATATAAATATTATATTCCATAATATGTAATATAATT ATTATATTCCATAATATGTAATATAATTATTATATTCCATAATATGTAAT ATAAATATTATATTCCATAATATGTAATATAAATATTATATTCCATAATA TGTAATATAAATATTATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(189): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGAACAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	99	0.0101	196	c.-19 others(207): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGTTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672474	A A	ATCAGCTA others(189): Show ATCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACCCCGAGACCAGGA CTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACCCCGAGA CCAGGACTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACC CCGAGACCAGGACTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0148 a0002c0004t0005g0148	1	208	0.0048	196	c.-19 others(207): Show c.-1995_-1994insCGACCAGTCCTGGTCTCGGGGTAGCTGACGACCA GTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGA CGACCAGTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCGGGGT AGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTGGTCT CGGGGTAGCTGA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1782		chr10	TogoVar
C11orf16_chr11_8915076_8937947	8936601	G G	GCCGGCTA others(189): Show GCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0056 a0007c0007t0001g0056	1	404	0.0025	196	c.-37 others(207): Show c.-3720_-3719insGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAA AAAATTAGCCGG	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding		3655		chr11	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(189): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAG GCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	257	0.0039	196	c.-33 others(207): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCA ACCTCTGCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C1QTNF8_chr16_1083226_1101244	1093230	A A	AGCACACA others(189): Show AGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACA AATCACTGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGC TCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCACAGCACACAGT CGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	359	0.0028	196	c.4+ others(209): Show c.4+266_*4+267insAGGGATTGGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCTGTGATTGATTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCAGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAG CGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C2CD4C_chr19_400445_414147	404013	T T	TCCTGCCC others(189): Show TCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTG TGAGGGGGGGACGGGGCCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCC TGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0103 a0001c0001t0026 a0001c0001t0103	a0001c0001t0026g0028 a0001c0001t0103g0083 a0001c0001t0026g0028 a0001c0001t0103g0083	3	259	0.0116	196	c.30 others(207): Show c.3082_*3083insGCCCCGTCCCCCCCTCACACCCCTCGGGACAGGA CCCCGTCCCCCCCTCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCAC ACCCCTCGGGACAGGGCCCCGTCCCCCCCACACCCCTCAGGGCAGGGCCC CGTCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCACACC CCTCGGGGCAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1431		chr19	TogoVar
C2CD4C_chr19_400445_414147	404709	A A	ATGGGGTC others(189): Show ATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA TGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0062 a0001c0001t0097g0062	1	217	0.0046	196	c.23 others(207): Show c.2386_*2387insCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTC CCCCCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCA GGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCC CCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAG GGCAGGACCCCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		735		chr19	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ACGGTGGT others(189): Show ACGGTGGTGGTGATGGTGGTGATGGTGATGTGATGGTGGTGGTGGTGACG GTGGTGATGATGGTGGTGGTGGTGGTGACGGTGATGGTGGTAATGGTGGT GGTGGTGACGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGATGG TGATGTGATGGTGGTGGTGGTGACGGTGGTGATGATGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	206	0.0049	196	c.363 others(213): Show c.363-1596_363-1595insCCACCATCACCATCATCACCACCGTCAC CACCACCACCATCACATCACCATCATCACCACCACCACCATCACCACCAC CATCACCACCGTCACCACCACCACCATTACCACCATCACCGTCACCACCA CCACCACCATCATCACCACCGTCACCACCACCACCATCACATCACCATCA CCACCATCACCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(189): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTC TTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	90	0.0111	196	c.573 others(215): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(189): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0136 a0001c0006t0013g0136	1	90	0.0111	196	c.573 others(215): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(189): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0107 a0026c0041t0001g0107	1	90	0.0111	196	c.573 others(215): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(189): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCAGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0037 a0050c0128t0037	a0050c0128t0037g0013 a0050c0128t0037g0013	1	326	0.0031	196	c.300 others(213): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(189): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAG GGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0004 a0021c0037t0004	a0021c0037t0004g0078 a0021c0037t0004g0078	1	103	0.0097	196	c.300 others(213): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATAC others(189): Show ATATATACGTATATATACGTATATATATGTACATATATATACGTATATAT ACGTATATATATGTACATATATGTACGTATATATACGTATATATATGTAC ATATATGTACATATATATACGTATATATACGTATATATGTATATATATGT ACATATATATACGTATATATATGTATATATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0014 a0001c0027t0001g0014	1	94	0.0106	196	c.124 others(213): Show c.1247-397_1247-396insCGTATATATACGTATATATATGTACATA TATATACGTATATATACGTATATATATGTACATATATGTACGTATATATA CGTATATATATGTACATATATGTACATATATATACGTATATATACGTATA TATGTATATATATGTACATATATATACGTATATATATGTATATATATGTA CATATATATACGTATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar

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