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
VCX3B_chrX_8459830_8471510	8467385	A A	AGGAGGTG others(283): Show AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0029 a0004c0005t0029	a0004c0005t0029g0001 a0004c0005t0029g0001	1	222	0.0045	290	c.10 others(301): Show c.1002_*1003insGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		876		chrX	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(283): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGG GGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA GGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	4	0.2500	290	c.103 others(309): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCC CCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(283): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0023	1	302	0.0033	290	c.-42 others(301): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(283): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATCATATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATCACATATATGA TATATATATCATATATCACATATATGATATATATATCATATATCACTCAT ATGATATATATCATATATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0003 a0001c0001t0029g0003	1	30	0.0333	290	c.-36 others(301): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATCATATATAT CACATATATGATATATATATCATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATATCATATATCACATATATGATATATATA TCATATATCACTCATATGATATATATCATATATATCACATATATGATATA TATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02809.hp2 others(2): Show HG01891.hp1 HG02055.hp2 HG02809.hp2 HG03041.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0010 a0001c0003t0001 a0001c0003t0010	a0001c0003t0001g0013 a0001c0003t0010g0034 a0001c0003t0001g0013 a0001c0003t0010g0034	5	82	0.0610	290	c.-11 others(301): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0099 a0001c0029t0001g0099	1	78	0.0128	290	c.-11 others(301): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(283): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCC CTCCCTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTT CCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0004 a0002c0004t0002g0004	1	78	0.0128	290	c.-11 others(301): Show c.-1132_-1131insAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGGAAGAAG GAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAAGGAAGAGAA GGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAA AGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(283): Show GCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTC TCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCA CACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCCGC CCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCT CAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGAACCCTCAG CCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	314	0.0032	290	c.-59 others(299): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAG GCACCCTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTC ACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCC CTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTC ACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACA CAGGAACCCTCAGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCT CAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ABR_chr17_998519_1184981	1153441	G G	GGGGGTCC others(284): Show GGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCG GGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCA CACCTGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGG GTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACC TACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02523.hp1 HG02015.hp2 HG02040.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0077 a0001c0001t0004 a0001c0001t0026 a0001c0001t0077	a0001c0001t0004g0258 a0001c0001t0026g0026 a0001c0001t0077g0290 a0001c0001t0004g0258 a0001c0001t0026g0026 a0001c0001t0077g0290	3	272	0.0110	291	c.61+ others(308): Show c.61+26225_61+26226insTAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGC AGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGC CCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGT GTGCCTGGACCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(284): Show GTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACC TGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCT GGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACG GGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04199.hp2 NA18747.hp2 others(3): Show HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18954.hp2 NA19063.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0033	a0001c0001t0001g0188 a0001c0001t0004g0301 a0001c0001t0007g0289 others(3): Show a0001c0001t0001g0188 a0001c0001t0004g0301 a0001c0001t0007g0289 a0001c0001t0009g0045 a0001c0001t0030g0106 a0001c0001t0033g0328	6	119	0.0504	291	c.61+ others(308): Show c.61+26221_61+26222insTCCCTAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTC CCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCC CAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGC AGGTGTGCCTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153548	C C	CGGGAGGG others(284): Show CGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGG CACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGG GGTCCAGGCACACCTACGGGAGGGCTGGGGACCCAGGCACACCTGCGGGA GGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACAC CTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0247 a0001c0001t0011g0247	1	302	0.0033	291	c.61+ others(308): Show c.61+26118_61+26119insCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCC TAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCC TGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGTA GGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCC CTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGAC CCCCAGCCCTCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288923	C C	CCGTGTCT others(284): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	275	0.0036	291	c.46 others(302): Show c.4640_*4641insACGGAGCAGAGACACGGGACGGGGCAGGGACACG GGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAG GGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGA CGGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACAC GGGACGGGGCAGGGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAG AGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3467		chr1	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(284): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0024 a0004c0003t0024	a0004c0003t0024g0029 a0004c0003t0024g0029	1	63	0.0159	291	c.-36 others(302): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCTC CCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCC CACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AKAP13_chr15_85375603_85754355	85628388	T T	TAAGAAGC others(284): Show TAAGAAGCCGCCTTCTTTGGGAGGCCGAGGCGGGTGGACCATGAGGTCAG GAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTAAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0157 a0001c0002t0009g0157	1	312	0.0032	291	c.416 others(312): Show c.4162-10971_4162-10970insTTGGGAGGCCGAGGCGGGTGGACC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTAAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAGCCGCCTTCT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKRD6_chr6_89428152_89638821	89462709	T T	TAAAAAGA others(284): Show TAAAAAGATTATCCTTCCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCG CGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGCAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0004 a0010c0017t0004	a0010c0017t0004g0115 a0010c0017t0004g0115	1	268	0.0037	291	c.-14 others(312): Show c.-144+29346_-144+29347insCTTCCCAGCACTTTGGGAGGCCGA GGCGAGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAGATTATC	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO6_chr12_45211095_45437349	45376185	T T	TAAAAAGT others(284): Show TAAAAAGTCAGGAGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG03139.hp1 others(2): Show HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0004 a0002c0006 a0003c0004	a0002c0006t0004 a0003c0004t0004 a0002c0006t0004 a0003c0004t0004	a0002c0006t0004g0003 a0002c0006t0004g0004 a0003c0004t0004g0149 others(2): Show a0002c0006t0004g0003 a0002c0006t0004g0004 a0003c0004t0004g0149 a0003c0004t0004g0150 a0003c0004t0004g0151	5	226	0.0221	291	c.110 others(310): Show c.1105-1856_1105-1855insGCCGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAGTCAGGA	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45376185	T T	TAAAAAGT others(284): Show TAAAAAGTCAGGAGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0001 a0002c0006t0004g0001	1	222	0.0045	291	c.110 others(310): Show c.1105-1856_1105-1855insGCCGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAA AAAAAAAAGTCAGGA	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID1B_chr6_156772378_157215779	157147312	C C	CCCTCACC others(284): Show CCCTCACCCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCCGCCTC CGGCCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCCTGCCCGCCAGC CCTCACCCCCGTCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGG CCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCATCCCTC ACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGGCCCT GCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCCAGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0003 a0017 a0003 a0017	a0003c0036 a0017c0024 a0003c0036 a0017c0024	a0003c0036t0017 a0017c0024t0023 a0003c0036t0017 a0017c0024t0023	a0003c0036t0017g0093 a0017c0024t0023g0007 a0003c0036t0017g0093 a0017c0024t0023g0007	2	147	0.0136	291	c.276 others(310): Show c.2762-1305_2762-1304insCCCCGCCTCCGGCCCTGCCCTCCATC CCTCACCCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCCGCCTCC GGCCCTGCCCGCCAGCCCTCACCCCCGTCTCCGACCCTGCCCGCCTTCCC TCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCAC CCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGC CCGCCAGTCCTCACC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049691	A A	AGGAGAAC others(284): Show AGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGG AACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGG GGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	303	0.0033	291	c.50 others(302): Show c.5039_*5040insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCTC CATGTGTTCCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTAT TCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTG CCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2412		chr8	TogoVar
ASTN2_chr9_116418112_117420057	116841276	C C	CTGAGGCA others(284): Show CTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGC AGTACCGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCGTGGAAAGAGAG GGAGAGGGAGAGGGAGAGGAGACTGACTCTAATTTTATTTTTATTTTTTG TAGATATGGAGTCTTATGCTGACCAGGCTGGTCTTGAACTCCTGACCTCC AGTGATCCTCCATCTCAGCCTCCCAAAGCCCTGGAATTACAGGTATGAGC CACCATGCCCAGCAGTAGTAAAGATGAAATGAGAGGTGAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	100	0.0100	291	c.204 others(312): Show c.2041-20784_2041-20494dupTTTTCACCTCTCATTTCATCTTTA CTACTGCTGGGCATGGTGGCTCATACCTGTAATTCCAGGGCTTTGGGAGG CTGAGATGGAGGATCACTGGAGGTCAGGAGTTCAAGACCAGCCTGGTCAG CATAAGACTCCATATCTACAAAAAATAAAAATAAAATTAGAGTCAGTCTC CTCTCCCTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCATGCCGAG CCGAAGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGC CTGATTCTCCTGCCTCA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASXL2_chr2_25728753_25883487	25789269	T T	TAAGAATC others(284): Show TAAGAATCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	215	0.0047	291	c.403 others(310): Show c.403+10115_403+10116insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTCAGATTCTT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(284): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACCCCCTACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0145 a0001c0006t0001g0145	1	5	0.2000	291	c.39+ others(308): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCCACC CCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCCACCTCCCCCC	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(284): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC CACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(7): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG02129.hp2 HG02132.hp1 HG02647.hp1 HG03017.hp2 HG03942.hp1 NA18612.hp1 NA18950.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0013 a0001c0039 a0002c0003 a0003c0007 a0003c0012	a0001c0001t0057 a0001c0002t0007 a0001c0005t0017 others(7): Show a0001c0001t0057 a0001c0002t0007 a0001c0005t0017 a0001c0006t0001 a0001c0006t0077 a0001c0013t0004 a0001c0039t0039 a0002c0003t0002 a0003c0007t0011 a0003c0012t0005	a0001c0001t0057g0161 a0001c0002t0007g0237 a0001c0005t0017g0080 others(7): Show a0001c0001t0057g0161 a0001c0002t0007g0237 a0001c0005t0017g0080 a0001c0006t0001g0164 a0001c0006t0077g0159 a0001c0013t0004g0035 a0001c0039t0039g0078 a0002c0003t0002g0114 a0003c0007t0011g0116 a0003c0012t0005g0188	10	14	0.7143	291	c.39+ others(308): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACC CCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCCACCTCCCCCC	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(284): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACCCCCTACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0067 a0001c0026t0001g0067	1	5	0.2000	291	c.39+ others(308): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCACC CCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCAC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCCACCTCCCCCC	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(284): Show TAAAAATATTTGTAGTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02083.hp2 NA18747.hp1 HG01943.hp2 HG02083.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0282 a0001c0001t0004g0303 a0001c0001t0006g0007 a0001c0001t0002g0282 a0001c0001t0004g0303 a0001c0001t0006g0007	3	311	0.0096	291	c.-46 others(312): Show c.-464-24855_-464-24854insCTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTATAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATATTTGTAGTA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCL11A_chr2_60452194_60558654	60467403	T T	TGGTGGTG others(284): Show TGGTGGTGGTAGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGGTAGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GATGGTGGTGGTAGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGATGGTGGTGGTAGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTG ATGATGGTGGTGGTAGTGGTGGTGTTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	256	0.0039	291	c.487 others(308): Show c.487+1328_487+1329insGCCATCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCACCACCACCATCACCACCAACACCACCACT ACCACCACCATCATCACCACCACCACCACCATCACCACCATCACCACCAC TACCACCACCATCATCACCACCACCACCACCACCACCACCACCATCACCA CTACCACCACCATCATCACCACCACCACCACCACCACCACCACCATCACC ACTACCACCACCATCATCACCACCACCACCACCATCACCACCACCACCAC CACTACCACCACC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012197	T T	TCTCCCCT others(284): Show TCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTTCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	328	0.0030	291	c.431 others(308): Show c.4311+783_4311+784insTCCCCTCCTCCCCTCCCCTCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCTCCTCCCCCTCC CCTTCTCCCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(284): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TGTAATATATGATATATTATATATGTAATATGTAATATATGATATATTAT ATATGTAATATGTAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19004.hp1 NA18939.hp1 NA19004.hp1	a0001 a0001	a0001c0017 a0001c0028 a0001c0017 a0001c0028	a0001c0017t0001 a0001c0028t0001 a0001c0017t0001 a0001c0028t0001	a0001c0017t0001g0180 a0001c0028t0001g0055 a0001c0017t0001g0180 a0001c0028t0001g0055	2	324	0.0062	291	c.244 others(310): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATATCATAT ATTACATATTACATATATAATATATCATATATTACATATTACATATATAA TATATCATATATTACATATTACATATATAATATATCATATATTACATATT ACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(284): Show ACCCACCGTGCGGTCGCTGCACATATGACCCACCCCCCCACCATGGCTCC GCCCACCGCGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGC CCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCC ACCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCAC CGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCG TGCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0001 a0006c0003t0001	a0006c0003t0001g0181 a0006c0003t0001g0181	1	290	0.0034	291	c.803 others(306): Show c.803+442_803+443insACCCACCCCCCCACCATGGCTCCGCCCACC GCGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT GCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGC GGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACCGTGCGG TCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCAGTC GCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGTGCGGTCG CTGCACATATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199439	T T	TGCGGTAG others(284): Show TGCGGTAGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGC GCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGC GGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGCGCG GTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGT CGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCG CTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0052 a0053 a0052 a0053	a0052c0046 a0053c0121 a0052c0046 a0053c0121	a0052c0046t0004 a0053c0121t0005 a0052c0046t0004 a0053c0121t0005	a0052c0046t0004g0109 a0053c0121t0005g0264 a0052c0046t0004g0109 a0053c0121t0005g0264	2	336	0.0060	291	c.803 others(306): Show c.803+670_803+671insAGCTGCACATATGCCCCACCCCCCACCATG GCTCCGCCCACCGCGCGGTCGCTGCACATATGCCCCACCCCCATCATGGC TCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCT CCGCCCACCGCGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCC GCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGC CCACCGTGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCC CACCGCGCGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGAGC others(284): Show TGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGG GGGCAGGGCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAG GGCGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACG GAGGGAGATGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAG ATGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGCG GAGAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGAGCAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0180 a0001c0002t0003g0180	1	149	0.0067	291	c.237 others(308): Show c.237-1935_237-1934insGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGGGC GGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGAGG GAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGGGAGATG GGGGGCAGGGCGGAGAGAGATGGGGGCAGGGCGGAGGGAGATGGGGGGGC AGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGA TGGGGGAGCAGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAPN11_chr6_44153820_44189401	44182264	A A	ACACACAC others(284): Show ACACACACAGACACAACCACACCACACTCACACACACACACATACACACT CACATACAGACACAACCACACCACACACACACACACATACAGACACAACC ACACCACACACACACACATACACACTCACATACAGACACAACCACACCAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC ACACACAGACACAACCACACCACACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	448	0.0022	291	c.193 others(308): Show c.1939-673_1939-672insCACAGACACAACCACACCACACTCACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA CACATACAGACACAACCACACCACACACACACACATACACACTCACATAC AGACACAACCACACCACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACAGACACAACCACACCACACACACACAC ATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182264	A A	ACACACAG others(284): Show ACACACAGACACAACCACACCACACTCACACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACACACATACAGACACAACCAC ACCACACACACACACACATACACACTCACATACAGACACAACCACACCAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC ACACACAGACACAACCACACCACACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	448	0.0022	291	c.193 others(308): Show c.1939-673_1939-672insCAGACACAACCACACCACACTCACACAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA CATACAGACACAACCACACCACACACACACACACATACACACTCACATAC AGACACAACCACACCACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACAGACACAACCACACCACACACACACAC ATACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182275	C C	CACAACCA others(284): Show CACAACCACACCACACTCACACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACACATACAGACACAACCACACCACACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACACACACAGACACA ACCACACCACACACACACACACATACACACTCACATACAGAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18962.hp1 NA18978.hp1 others(1): Show NA18942.hp2 NA18962.hp1 NA18978.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	4	453	0.0088	291	c.193 others(308): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA GACACAACCACACCACACACACACACACATACACACTCACATACAGATAC AACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACTC others(284): Show CCACACTCACACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACACATACAGACACAACCACACCACACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACACAACCACACCACACACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACAGACACAACCACACCACAC ACACACACACATACACACTCACATACAGATACAACCACACCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	167	0.0060	291	c.193 others(308): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACAGA CACAACCACACCACACACACACACACATACACACTCACATACAGATACAA CCACACCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACTC others(284): Show CCACACTCACACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACACATACAGACACAACCACACCACACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACACACACAGACACAACCACACCAC ACACACACACATACACACTCACATACAGATACAACCACACCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	167	0.0060	291	c.193 others(308): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACACACACACACA GACACAACCACACCACACACACACACATACACACTCACATACAGATACAA CCACACCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182287	A A	ACACTCAC others(284): Show ACACTCACACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACATACAGACACAACCACACCACACACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACATACACACTCACATA CAGACACAACCACACCACACACACACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACACACAGACACAACCACACC ACACACACACACATACACACTCACATACAGATACAACCACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18982.hp2 HG00735.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	458	0.0044	291	c.193 others(308): Show c.1939-651_1939-650insTCACACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACATACAGACACAACCACACC ACACACACACACACATACACACTCACATACAGACACAACCACACCACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA CACAGACACAACCACACCACACACACACACATACACACTCACATACAGAT ACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182324	C C	CACAACCA others(284): Show CACAACCACACCACACACACACACACATACAGACACAACCACACCACACA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ATACACACTCACATACAGACACAACCACACCACACACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACACACACAGACACAA CCACACCACACACACACACACATACACACTCACATACAGATACAACCACA CCACACACACACACACACACACATACACACTCACATACAGAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	381	0.0026	291	c.193 others(308): Show c.1939-595_1939-594insCACATACAGACACAACCACACCACACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACACACACAGACACAAC CACACCACACACACACACACATACACACTCACATACAGATACAACCACAC CACACACACACACACACACACATACACACTCACATACAGATACAACCACA CCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(284): Show ACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTC CGCCCCTCGCCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCC CCCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCC CTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0243 a0001c0004t0001g0243	1	244	0.0041	291	c.326 others(308): Show c.3260+648_3260+649insGTGAGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGG GGCGGAGGGGTGGGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGTGGAGGGATGAGAGGCGGAGGGTGG GGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGG AGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTG GGGGGCGGAGGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(284): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCAC TCTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGC TCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0002 a0015c0021t0002	a0015c0021t0002g0367 a0015c0021t0002g0367	1	269	0.0037	291	c.348 others(304): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAC GTGACTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(284): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATAATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATATATATTA TATAAAATATATATTATATTATTATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0089 a0009c0014t0001g0089	1	92	0.0109	291	c.154 others(310): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATAATATATAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATTATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882073	G G	GGGGAGAA others(284): Show GGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	173	0.0058	291	c.303 others(310): Show c.303+24048_303+24049insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTT TCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	420568	A A	AAACACAC others(284): Show AAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	420	0.0024	291	c.413 others(308): Show c.413+1934_413+1935insCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD36_chr7_80633642_80684274	80638866	A A	AAAAGGTA others(284): Show AAAAGGTAGTAACTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	390	0.0026	291	c.-18 others(308): Show c.-184+141_-184+142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGTAG TAACTGTTTTCTT	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(284): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	146	0.0068	291	c.487 others(308): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(284): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18970.hp1 HG04199.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0005g0099 a0001c0001t0001g0003 a0001c0001t0005g0099	2	274	0.0073	291	c.487 others(308): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(284): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTCCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0036 a0004c0005t0001g0036	1	8	0.1250	291	c.69 others(302): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTC CCTCCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCT CCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTAC TCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(284): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	68	0.0147	291	c.-42 others(302): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNTNAP5_chr2_124020287_124926219	124811981	A A	AAATTTAT others(284): Show AAATTTATATTTATATATTATATAATATATAATTTATATTTATATATTAT ATAATATATAATTTATATTTATATATTATATAATATATATTTATATTATA TATTATATAATATATAATTTATATTTATATATTATATAATATATAATTTA TATATATATTATATAATATATAATTTATATTATATATTATATAATATATT TTATATTTGTATATTATATAATATATAATTTATATTATATATTATATATA TAATTTATATATATAATATATAATATATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0055 a0001c0002t0016g0055	1	54	0.0185	291	c.321 others(312): Show c.3217+13749_3217+13750insTTTATATTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATAATTTATATATATATTATA TAATATATAATTTATATTATATATTATATAATATATTTTATATTTGTATA TTATATAATATATAATTTATATTATATATTATATATATAATTTATATATA TAATATATAATATATATTATATATTATATAATTTATATTTATATATTATA TAATATATAATTTATATTTATATATTATATAATATATAATTTATATTTAT ATATTATATAATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45500769	T T	TGTGTTGG others(284): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0187 a0001c0011t0001g0187	1	285	0.0035	291	c.268 others(310): Show c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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