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	318050	C C	CCTCCCCC others(202): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC TTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCAC CTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCTCC CACCCTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0155 a0001c0001t0049g0155	1	261	0.0038	209	c.-37 others(220): Show c.-3780_-3779insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC CTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCAT CTTTTACCTCCCTCCCACCCTGCAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3663		chr5	TogoVar
AJAP1_chr1_4649609_4797534	4740369	T T	TGGGGAGT others(202): Show TGGGGAGTGAGTGTTGATGGGGACAGAGTGGGGGAGGGGGAGGGGGAGTG AGTGTTTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGTTTG ATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGAC AGAGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGG GGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0152 a0001c0002t0087 a0001c0002t0152	a0001c0002t0087g0022 a0001c0002t0152g0326 a0001c0002t0087g0022 a0001c0002t0152g0326	2	249	0.0080	209	c.829 others(228): Show c.829+27698_829+27699insGGGGGAGGGGGAGGGGGAGTGAGTGT TTGATGGGGACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGTTTGATGGG GACAGTGTGGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGT GGGGGAGGGGGAGGGGGAGTGAGTGAGTGATGGGGACAGAGTGGGGGAGG GGGAGGGGGAGTGAGTGTTGATGGGGACAGAGT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(202): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGG GAGGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0328 a0001c0002t0012g0328	1	36	0.0278	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTC TCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(202): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGGG GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGG GGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0323 a0001c0002t0012g0323	1	36	0.0278	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCCTCCCCCCTCTCCCCCTC TCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGGAG others(202): Show GGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGG GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGG GGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGAGGGGGGAGGA GAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGAGAAGGGAGGGGG GGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0326 a0001c0002t0012g0326	1	36	0.0278	209	c.667 others(224): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCTCCCCCCTCTCCCCCCT CCCCTCCCCCCTTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCT CCCCTCTCCCCCCTCTCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO1_chr11_70073317_70194530	70122187	C C	CTCTCTGT others(202): Show CTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCC CACCTCTCTGTCTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTG TCTCTCTCTCCATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCT CCATCTGCCTCTGTCTCTCTCTCTCTCCGTCTCCCCCACCTCTCTCTGTC TGTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01069.hp2 others(5): Show HG00099.hp2 HG00323.hp1 HG01069.hp2 HG01071.hp2 HG04115.hp1 HG04184.hp2 NA18986.hp2 NA19067.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0015 a0001c0001 a0001c0003 a0006c0015	a0001c0001t0013 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0001t0013 a0001c0003t0001 a0001c0003t0006 a0006c0015t0001	a0001c0001t0013g0238 a0001c0003t0001g0253 a0001c0003t0001g0265 others(5): Show a0001c0001t0013g0238 a0001c0003t0001g0253 a0001c0003t0001g0265 a0001c0003t0001g0269 a0001c0003t0001g0277 a0001c0003t0006g0271 a0006c0015t0001g0270 a0006c0015t0001g0272	8	262	0.0305	209	c.898 others(226): Show c.898-2162_898-2161insCTCTGTCTCTCCATCTGCCTCTGTCTCT GTCTCTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTATCTCTGTCTC TCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCGCCTCTCTCT GTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTCTCTCTCTCCGT CTCCCCCACCTCTCTCTGTCTGTCTCTCTAT	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO9_chr11_412938_447011	436905	A A	AGTGGGTG others(202): Show AGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCTGGAGATGAGCGGGGGG TGAGCGGGGGGTGAGCGGGGAGTGAGCTGGAGATGAGCGGGGGGTGAGCA GGGGGTGAGCAGGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCAGGGGGT GAGCAGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCTGGAGATGAGCGG GGGGTGAGCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02683.hp2 HG01168.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0109 a0001c0001t0001g0114	2	199	0.0101	209	c.7-2 others(222): Show c.7-2808_7-2807insCGCTCACCCCCCGCTCATCTCCAGCTCACTCC CCGCTCACCTCCCGCTCACCCACTGCTCACCCCCTGCTCACCCCCTGCTC ACCCCCTGCTTACCCCCTGCTCACCCCCTGCTCACCCCCCGCTCATCTCC AGCTCACTCCCCGCTCACCCCCCGCTCACCCCCCGCTCATCTCCAGCTCA CTCCCCGCTCACCTCCCGCTCACCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
APOB_chr2_20996429_21049073	21001219	T T	TTTAATTA others(202): Show TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATA AATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATA TTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAA TTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01261.hp2 others(7): Show HG00738.hp2 HG01167.hp1 HG01261.hp2 HG02300.hp1 HG03669.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA19085.hp1 NA20752.hp2	a0006 a0022 a0033 a0006 a0022 a0033	a0006c0006 a0006c0095 a0022c0032 others(1): Show a0006c0006 a0006c0095 a0022c0032 a0033c0096	a0006c0006t0001 a0006c0095t0001 a0022c0032t0001 others(1): Show a0006c0006t0001 a0006c0095t0001 a0022c0032t0001 a0033c0096t0001	a0006c0006t0001g0037 a0006c0006t0001g0109 a0006c0006t0001g0130 others(6): Show a0006c0006t0001g0037 a0006c0006t0001g0109 a0006c0006t0001g0130 a0006c0006t0001g0138 a0006c0006t0001g0161 a0006c0006t0001g0180 a0006c0095t0001g0169 a0022c0032t0001g0028 a0033c0096t0001g0172	10	324	0.0309	209	c.51 others(218): Show c.510_*511insTATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAAT TAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAA TATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTT ATAATTAAAATATTTATAATTAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		209		chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(202): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	348	0.0029	209	c.-46 others(220): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARFRP1_chr20_63693647_63712976	63693684	A A	ACCTCCAC others(202): Show ACCTCCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCACCAC CACCTCCACCTCCACCACGTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACC TCCACCACCACCACCACCCCCCACCACCACCACCACCACCCACCTCCACC TCCACCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	183	0.0055	209	c.67 others(220): Show c.6758_*6759insACGTGGTGGAGGTGGAGGTGGGTGGTGGTGGTGG TGGTGGGGGGTGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGA GGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGG TGGTGGACGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTG GTGGTGGTGGAGGTGGAGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4962		chr20	TogoVar
ARHGAP19_chr10_97217179_97297637	97251587	G G	GGAAAGAA others(202): Show GGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAAGGGAAGGG GAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAA GGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG AAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAATGGA AGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01192.hp2 others(3): Show HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG02300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0005c0007t0006	a0001c0001t0002g0011 a0001c0001t0006g0007 a0001c0001t0006g0009 others(3): Show a0001c0001t0002g0011 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0014g0013 a0005c0007t0006g0008	6	239	0.0251	209	c.927 others(226): Show c.927+4730_927+4731insTCCCTTCCCTTCCATTCCCCTTTCCTTT CCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATT CCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCCTTCC CTTCCCTGCCCCCTCCCTCTCCCTTTCTTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	385	0.0026	209	c.31 others(220): Show c.3117_*3118insCCCAACCCCAACACCAACCCCGCGGTTCTCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACC CCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ARHGDIG_chr16_275591_288010	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	322	0.0031	209	c.31 others(220): Show c.3169_*3170insCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2974		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(202): Show CCTCCCCCTCCCCCTCCCCCCCCTCCCCTCTCCCTTCCCCCTCCCTCCCC TCCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTTCCCCCTCCCCCTCCCC CTCCCCCTACCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	192	0.0052	209	c.102 others(226): Show c.1024+318_1024+319insTCCCCCCCCTCCCCTCTCCCTTCCCCCT CCCTCCCCTCCCTCCCCCCTCCCCTCCCCCTCCCTCCCCCTTCCCCCTCC CCCTCCCCCTCCCCCTACCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(202): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCC CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	72	0.0139	209	c.102 others(226): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049773	A A	AGGGGAAC others(202): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGGGAATACATGGGGGCAGAGGGG GAACACATGGGGGGCAGAGGGGAATACATGGAGGGCAGAGGGGAACACAT GGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	259	0.0039	209	c.49 others(220): Show c.4957_*4958insCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATG TATTCCCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTATTCCCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2330		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804200	C C	CCCTCCTT others(202): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCC CTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCAT CCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0127 a0001c0002t0059g0127	1	237	0.0042	209	c.163 others(224): Show c.163-755_163-754insTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTT CACCTCCCTCCCCCCATCCCCTCTCTGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(202): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0108 a0001c0005t0003g0108	1	322	0.0031	209	c.21 others(220): Show c.2190_*2191insAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGG GTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAG AACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAA CCGCGGGGTTGGTGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(202): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0037 a0003c0008t0037	a0003c0008t0037g0275 a0003c0008t0037g0275	1	259	0.0039	209	c.21 others(220): Show c.2138_*2139insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGG AGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(202): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	296	0.0034	209	c.36 others(220): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(202): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGGAGGGAGGGGGAAGGGA GGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	144	0.0069	209	c.784 others(224): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAGGAAGGGAGGG AGGGGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAG3_chr10_119646380_119682819	119675871	C C	CCTTCCCC others(202): Show CCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCC CTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCT TCCCCCTTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCC CCTTCCCCCTTTCCCCCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCC TTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	416	0.0024	209	c.910 others(224): Show c.910-592_910-591insTTCCCCCTTCCCTCCTTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTT CCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCCCCCTTGCCCCCTTC TCCCCTTCCTTCCTTCCCCCTTCCCCCTTTCCCCCCTTCCCCCCTTCCCC TTTTCCCCCCTTCCCCCCTTCCTTCCTTC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGAGGGAGAGGGGGGAGGGG GGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0093 a0001c0004t0014g0093	1	2	0.5000	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCCATCCCCA TCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0095 a0001c0004t0003g0095	1	2	0.5000	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCAT CCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0106 a0001c0004t0003g0106	1	2	0.5000	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCAT CCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGAGG GGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0115 a0001c0004t0003g0115	1	2	0.5000	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(202): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGAGGGAGAGGGGGGAGG GGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGAT GGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0116 a0001c0003t0003g0116	1	2	0.5000	209	c.51+ others(222): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCCTC CCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BDH1_chr3_197504783_197560968	197517527	C C	CTTCCTGC others(202): Show CTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCATCAGT CACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCAATC AGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCCCA TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCCCT CATCAGTCAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	318	0.0031	209	c.410 others(226): Show c.410-3112_410-3111insATGACTGATGAGGGGGTTGGCCTGAGGG GGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAA GGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCGGCCT GAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGC CTGAGGGGGGATGGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BTNL9_chr5_181035266_181066521	181046000	C C	CCCCAGCC others(202): Show CCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	235	0.0043	209	c.109 others(224): Show c.109+610_109+611insGCCCAGCCCCCAACACCTCCTCCACCATCT CCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCC AACACCTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCT	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C20orf96_chr20_265863_295750	278941	C C	CGGGACGG others(202): Show CGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGCGGGACGGAGGGCGGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GCGGGACGGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	350	0.0029	209	c.465 others(224): Show c.465+230_465+231insTCCGTCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCG CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	400459	G G	GCAGGGGT others(202): Show GCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACC CTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCC CAGGCCCACCCTCACTCTTGCAGGGGTCCCCAGGCCCACCCTCACTCTTG CAGGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTCCCCAGGCCCACC CTCACTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	240	0.0042	209	c.66 others(220): Show c.6636_*6637insGAAGAGTGAGGGTGGGCCTGGGGACCCCTGCAAG AGTGAGGGTGGGCCTGGGAACCCCTGCAAGAGTGAGGGTGGGCCTGGGGA CCCCTGCAAGAGTGAGGGTGGGCCTGGGGACCCCTGGAAGAGTGAGGGTG GGCCTGGGGACCCCTGGAAGAGTGAGGGTGGGCCTGGGAACCCTGGAAGA GTGAGGGTGGGCCTGGGGACCCCTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4985		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1205036	G G	GGGGCCCC others(202): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0238 a0002c0007t0002g0238	1	336	0.0030	209	c.245 others(224): Show c.2452-75_2452-74insCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACAC others(202): Show CCACACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA GACACAACCACACCACACACACACACACATACACACTCACATACAGATAC AACCACACCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	168	0.0119	209	c.193 others(226): Show c.1939-640_1939-639insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACAGACACAACCACACCACACACACACACACATACACACTCACATACA GATACAACCACACCACACACACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGA GAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0271 a0002c0004t0002g0271	1	321	0.0031	209	c.234 others(226): Show c.234+6905_234+6906insCTTCTTCCTCTCCTTCTCCTTCTCCTTC TTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03834.hp2 HG00609.hp1 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0005 a0002c0003t0001 a0002c0004t0005	a0002c0003t0001g0286 a0002c0004t0005g0318 a0002c0003t0001g0286 a0002c0004t0005g0318	2	44	0.0455	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCCTCTCC TTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0300 a0002c0003t0001g0300	1	43	0.0233	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0250 a0003c0005t0001g0250	1	43	0.0233	209	c.234 others(226): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(202): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	282	0.0035	209	c.234 others(226): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTC TTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(202): Show AAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGG AGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	282	0.0035	209	c.234 others(226): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC TTCTTCTTCTTCTTCTTCCTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AGGAGGAA others(202): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02976.hp2 HG02486.hp2 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222	3	333	0.0090	209	c.234 others(226): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(202): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG AAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	24	0.0417	209	c.234 others(226): Show c.234+6819_234+6820insTCTTCTTCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(202): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAG AAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	47	0.0213	209	c.234 others(226): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88980056	A A	ATGGGTGG others(202): Show ATGGGTGGATAGATGAGTGAATGGGTGGATGGATGGATGGATGGATAAAT GGGTGAATGGGTGGATGGGTGGATAGATGGGTGAATGGGTGGAAGGATGG ATGGATAAATGGGTGAATGGGTGGGGTGGATGGAGAGATGGGTGAATGGG TGGGTAGGTAAATGGATGGGTGTGTGGGTGAATGAATGGTGGATGGGTGT GTGGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	173	0.0058	209	c.-32 others(220): Show c.-3250_-3249insCCCACCCCACACACCCATCCACCATTCATTCACC CACACACCCATCCATTTACCTACCCACCCATTCACCCATCTCTCCATCCA CCCCACCCATTCACCCATTTATCCATCCATCCTTCCACCCATTCACCCAT CTATCCACCCATCCACCCATTCACCCATTTATCCATCCATCCATCCATCC ACCCATTCACTCATCTATCCACCCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding		2850		chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(202): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCC CCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCC ACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	18	0.0556	209	c.-22 others(220): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(202): Show TTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCGTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCT CCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCC TCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0092 a0001c0001t0001g0097	2	311	0.0064	209	c.336 others(224): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAACGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDK14_chr7_90591321_91215590	91027855	C C	CCTCCCCT others(202): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	165	0.0061	209	c.104 others(230): Show c.1042-18006_1042-18005insCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHMP1A_chr16_89639435_89662708	89647903	C C	CCCAGCGC others(202): Show CCCAGCGCGGGGTCGGTGGGAGAAAAGGCCGCCGACGTGGAGACCCAGCG CGGGGTCGGTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG GTGGAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGTCGGTGGAGAAAGGCCGCC GACGTGGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	390	0.0026	209	c.253 others(224): Show c.253-573_253-572insTCTCCACGTCGGCGGCCTTTCTCCACCGAC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCCACCGACCCCGCGCTGG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL4A2_chr13_110302284_110518209	110456978	C C	CATGCCCT others(202): Show CATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCT GCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGC GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCTGCGTGGGACC CCAGGCGTCGTGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGTC CGTGGGGCTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18964.hp1 NA18946.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0017 a0001c0001t0001 a0001c0003t0017	a0001c0001t0001g0195 a0001c0003t0017g0245 a0001c0001t0001g0195 a0001c0003t0017g0245	2	235	0.0085	209	c.134 others(225): Show c.1340-239_1340-31dupGATGCCGTGCATCTGCGTGGGACCCCAGG CGTCGTGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGTCCGTGG GGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATG CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGT CTGCGTGGGACCCCAGGCGTCCGTGGGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(202): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01074.hp1 others(18): Show HG00323.hp2 HG00423.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01258.hp1 HG01496.hp2 HG02015.hp1 HG02559.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 NA18612.hp1 NA19067.hp2 NA19088.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0013 a0017 a0020	a0001c0003 a0001c0012 a0001c0018 others(7): Show a0001c0003 a0001c0012 a0001c0018 a0001c0024 a0002c0002 a0002c0008 a0009c0029 a0013c0013 a0017c0019 a0020c0031	a0001c0003t0003 a0001c0003t0006 a0001c0012t0005 others(8): Show a0001c0003t0003 a0001c0003t0006 a0001c0012t0005 a0001c0018t0001 a0001c0024t0003 a0002c0002t0004 a0002c0008t0004 a0009c0029t0003 a0013c0013t0004 a0017c0019t0003 a0020c0031t0013	a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 others(18): Show a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0059 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0018t0001g0049 a0001c0024t0003g0031 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0027 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0008t0004g0032 a0009c0029t0003g0028 a0013c0013t0004g0018 a0017c0019t0003g0114 a0020c0031t0013g0022	21	40	0.5250	209	c.100 others(224): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(202): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG GGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGA CCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG GGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01192.hp1 others(7): Show HG00733.hp1 HG01123.hp2 HG01192.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010	a0002c0002t0001g0011 a0002c0002t0001g0042 a0002c0002t0001g0051 others(7): Show a0002c0002t0001g0011 a0002c0002t0001g0042 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0127 a0002c0002t0008g0118 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039	10	29	0.3448	209	c.100 others(224): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGA CGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAC CAGGGGAAGGACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar

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