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
VCX2_chrX_8164944_8176267	8169105	C C	CTCCCTCC others(381): Show CTCCCTCCTCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCACACACCGCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCC TCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	79	0.0127	388	c.92 others(397): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGAGGAGG GA	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467067	A A	AGGGAGGG others(381): Show AGGGAGGGTGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAGTGGTGGTGT GTGGGGAGGGTGGGAGGGGGAAGAGGAGGTGTGTGGGGTGGGGAGGGAGG GGGAAGAGGTGGTGTGTGGGGAGGGTGGGTGGTGGTTGTGGGGAGGGGAG GGAGGGAAGAGGTGGTTGTGTGGGGAGGGAGGGAGGGGGAAGAGGTGGTG TGTGGGGAGGGAGGTGTGTGGGGGAGAGGAGGTGTGTGTGGGGAGGGTGG GGGGGAAGTGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGTGGAGGTGTGTGTGGGGGGGAGGGGGAGAG GTGGTGTGGGGAGGAGGGAGGTGGGGGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	260	0.0038	388	c.68 others(397): Show c.684_*685insGGGAGGGTGGAGAGGAGGTGTGTGGGGAGGGAGGGA GGAGTGGTGGTGTGTGGGGAGGGTGGGAGGGGGAAGAGGAGGTGTGTGGG GTGGGGAGGGAGGGGGAAGAGGTGGTGTGTGGGGAGGGTGGGTGGTGGTT GTGGGGAGGGGAGGGAGGGAAGAGGTGGTTGTGTGGGGAGGGAGGGAGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGTGTGTGGGGGAGAGGAGGTGTGT GTGGGGAGGGTGGGGGGGAAGTGGAGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGTGGAGGTGTGTGTGGGG GGGAGGGGGAGAGGTGGTGTGGGGAGGAGGGAGGTGGGGGAGGAGGTGTG TG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		558		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(381): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	301	0.0033	388	c.53+ others(403): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCGATAGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(381): Show TAATATATATATAATATATATTATATATATAATATATATATATTATATAT ATAATATATATATTTAATATATATATTATATATATTATATATATATTATA TATATTTAATATATATTATATATATAATATATATATTATATATATAATAT ATATATAATATATATATTATATATATAATATATATATTATATATATATAA TATATATATTTAATATATATATTATATATATAATATATATTATATATATA ATATATATATTTAATATATATTATATATATAATATATATATTATATATAT AATATATATATAATATATATATTATATATATAATATATATATTATATATA TATTATATATATATTATATATATATATAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	49	0.0204	388	c.37 others(399): Show c.3793_*3794insCTCTCTCTCTCTATATATATATATAATATATATA TAATATATATATAATATATATATTATATATATAATATATATATTATATAT ATATTATATATATAATATATATATTATATATATAATATATATTAAATATA TATATTATATATATAATATATATTATATATATAATATATATATTAAATAT ATATATTATATATATATAATATATATATTATATATATAATATATATATTA TATATATATTATATATATAATATATATATTATATATATAATATATATTAA ATATATATAATATATATATAATATATATAATATATATATTAAATATATAT ATTATATATATAATATATATATATTATATATATAATATATATTATATATA TATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZFPM2_chr8_105313438_105809539	105380794	T T	TTATAATA others(381): Show TTATAATATATATAATATATAATATATATGTTATATATATTATAATATAT ATAACATATATATTATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAATATATATAACA TATATATTATATGTTATATATATTATAATATATATAACATATAATATATA TGTTATATATATTATAATATATATAACATATAATATATATGTTATATATA TTATAATATATATAACATATAATATATATGTTATATATATTATAATATAT ATAACATATAATATATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp2 HG00735.hp1 HG01952.hp2	a0001 a0005 a0001 a0005	a0001c0016 a0005c0011 a0001c0016 a0005c0011	a0001c0016t0007 a0005c0011t0008 a0001c0016t0007 a0005c0011t0008	a0001c0016t0007g0011 a0005c0011t0008g0012 a0001c0016t0007g0011 a0005c0011t0008g0012	2	57	0.0351	388	c.41- others(405): Show c.41-38346_41-38345insATATATATAATATATAATATATATGTTA TATATATTATAATATATATAACATATATATTATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATATATAACATATATATTATATGTTATATATATTATAATATAT ATAACATATAATATATATGTTATATATATTATAATATATATAACATATAA TATATATGTTATATATATTATAATATATATAACATATAATATATATGTTA TATATATTATAATATATATAACATATAATATATATGTTATATATATTATA ATATATATAACATATAATATATATGTTATATATATTATAATATATATAAC ATATAATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(381): Show CATATATCATATACATCACATACATCACATATATGATATATATATCATAT ACATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATCACATATAT GATATATATCATATATCATATGATATATATCATATATATCACATATATGA TATATATCATATGTGATATATATCATATATATCACATATATGATATATAT CATATGTGATATATATCATATATATCACATATATGATATATATCATATGT GATATATATCATATATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	30	0.0333	388	c.-36 others(399): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCATATACATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATCACATATATGATATATATCATATATCATATGATATATATCATAT ATATCACATATATGATATATATCATATGTGATATATATCATATATATCAC ATATATGATATATATCATATGTGATATATATCATATATATCACATATATG ATATATATCATATGTGATATATATCATATATATCACATATATGATATATA TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(381): Show GATATATATGGTATATATGATATATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATATATGTCACATATATCATAT GTGATATATGTCACATATATCACATGTGATATATATCATATATATCATAT ATATGATATATATCATATATATCATATATATGATATATATCATATATCAT ATATATGATATATATCACATATATATATCATATATATCACATATATATCA TATATATCATATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	253	0.0040	388	c.-35 others(399): Show c.-3503_-3502insATATATATGGTATATATGATATATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATATATG TCACATATATCATATGTGATATATGTCACATATATCACATGTGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATGATA TATATCATATATCATATATATGATATATATCACATATATATATCATATAT ATCACATATATATCATATATATCATATATATATCATATATATGATATATA TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(381): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	37	0.0270	388	c.181 others(409): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGT GGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGA GGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(381): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0033 a0001c0002t0041g0033	1	37	0.0270	388	c.181 others(409): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGT GGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGA GGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(381): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCAATCCCCCCTCC GCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18970.hp2 NA19005.hp2 others(2): Show NA18943.hp1 NA18970.hp2 NA19005.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0002g0009 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0002g0009	5	318	0.0157	388	c.-10 others(405): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGC GCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAAT GCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGT GGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGA ATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCC GTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105951	C C	CCGCTCCG others(381): Show CCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATT CCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCA CGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCA TTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGT CACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCA TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	408	0.0025	388	c.-10 others(405): Show c.-10-2725_-10-2724insCGGAATGCGCGGTGACTGCCGTGGGCGC GGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGG ATTGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGC CGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGG GGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGC GGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGC GCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGC GCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGG GCGCGGAGCG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(382): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02080.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0002g0183 a0001c0001t0001g0182 a0001c0001t0002g0183	2	203	0.0099	389	c.61+ others(404): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGG TGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(382): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19066.hp2 HG02056.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0066 a0001c0001t0001g0067 a0001c0001t0003g0066	2	273	0.0073	389	c.61+ others(404): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATG GGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTG AGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAG GTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGT GATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(382): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC CAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACC TCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTC CACTCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	307	0.0033	389	c.61+ others(404): Show c.61+6363_61+6364insGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70688901	G G	GGGAGAGG others(382): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0302 a0001c0005t0011g0302	1	350	0.0029	389	c.523 others(408): Show c.523-13405_523-13404insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(382): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCATCTT TTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCT CCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCC CCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG01975.hp1 others(4): Show HG01123.hp1 HG01255.hp2 HG01975.hp1 HG02004.hp1 HG02300.hp2 NA19060.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0050 a0001c0001t0005g0077 a0001c0001t0005g0078 others(4): Show a0001c0001t0005g0050 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0113 a0002c0002t0001g0191	7	98	0.0714	389	c.-37 others(400): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCC CTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCAC GCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTC ACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AK1_chr9_127861486_127882675	127882593	G G	GCGGGGGG others(382): Show GCGGGGGGGAGGGGAGGAGAGGGGAGGGAAGGGGAGGGGGGGGGAAGAAG GGGAGGGGAAGAAGGGGAAGGGAAGAAGGAAGAAGGGAAGGGAAGAGGGA AGGGAAGAGGGGAAGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGG AAGGGAAGGAAAGGAAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGG GGAGGGAAGGGGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAG GAAAAAAGGAAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAA GAAAGGAAGGGAAGAAGGGAAGGGAAGGAGGAGGGAAGGGAAGGAAGAAA GGAAGGGAAGAGAAGAAGGGAAGAAAGAAGGGAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0067 a0001c0001t0013g0067	1	424	0.0024	389	c.-50 others(400): Show c.-5004_-5003insTCCTTCCTCCCTTCTTTCTTCCCTTCTTCTCTTC CCTTCCTTTCTTCCTTCCCTTCCCTCCTCCTTCCCTTCCCTTCTTCCCTT CCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTTCCCTTCTTCTCTTCCT TTTTTCCTTCCCCTCTTCCCTCCCTCTCTTCCCTCCCCCTCTTCCCCCTT CCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTTTCCTTTCCT TCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCTTCCCCTC TTCCCTTCCCTCTTCCCTTCCCTTCTTCCTTCTTCCCTTCCCCTTCTTCC CCTCCCCTTCTTCCCCCCCCCTCCCCTTCCCTCCCCTCTCCTCCCCTCCC CCCCG	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		4919		chr9	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(382): Show TATATATTTATATATAGAATATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTATATAT ATAGAATATATATATAGAATATATATTTATATATATAGAATATATTTATA GAATATATATTTATATATATAGAATATATATATAGAATATATATTTATAT ATATAGAATATATATATAGAATATATATTTATATATATAGAATATATATA TAGAATATATATTTATATATATAGAATATATATATAGAATATATATATAG AATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0148 a0001c0001t0003g0097 a0001c0001t0003g0148	2	151	0.0132	389	c.70- others(406): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATATTCTATATATATATTCTATATATATAA ATATATATTCTATATATATATTCTATATATATAAATATATATTCTATATA TATATTCTATATATATAAATATATATTCTATATATATATTCTATATATAT AAATATATATTCTATAAATATATTCTATATATATAAATATATATTCTATA TATATATTCTATATATATAATATATATTCTATATATATATTCTATATATA TAAATATATATTCTATATATATATTCTATATATATAAATATATATTCTAT ATATATATTCTATATATATAAATATATATTCTATATATATATATTCTATA TATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144686954	G G	GCACTAGC others(382): Show GCACTAGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTAGCAGTGAG CACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCAGTGAGCACTTCC CACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	201	0.0050	389	c.-13 others(400): Show c.-1351_-1350insTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAAT GTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTG TAAATGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCAC GGGGTGGGAAGTGCTCACTGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGT GGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGG GAAGTGCTCACTGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGC TAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1109		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(382): Show GGTGAGCACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCC ACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 NA19009.hp1 HG01952.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0109 a0001c0002t0001g0083 a0001c0002t0001g0109	2	147	0.0136	389	c.-18 others(400): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTG CTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687708	G G	GGTGAGCA others(382): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCC CTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	192	0.0052	389	c.-21 others(400): Show c.-2105_-2104insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1863		chr8	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(382): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	358	0.0028	389	c.39 others(400): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(382): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTGTTATATTATATAATGATATATAATATAA TTTGTTATATTATATAATGATATATAATATAATTTGTTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	358	0.0028	389	c.39 others(400): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAACAAATTATATTATATATCATTATATAATAT AACAAATTATATTATATATCATTATATAATATAACAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
C7orf50_chr7_992006_1143247	1117104	T T	TCACCGAC others(382): Show TCACCGACGCCCACGCAGGATGACATCACTGCAGCTCTACGGACCGGCTT CCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGAC CGGCTTCCATCACCGACGCCCACGCAGGATGATGACACCACTGCAGCTCT ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGC AGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACAT CACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGA TGACACCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCA GGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	246	0.0041	389	c.129 others(408): Show c.129+10152_129+10153insCTGGAAGCCGGTCCGTAGAGCTGCAG TGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAG CTGCAGTGGTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCC GTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGC CGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGAT GGAAGCCGGTCCGTAGAGCTGCAGTGGTGTCATCATCCTGCGTGGGCGTC GGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTG GGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCCTGC GTGGGCGTCGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(382): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCT CTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0054 a0003c0005t0054	a0003c0005t0054g0066 a0003c0005t0054g0066	1	22	0.0455	389	c.482 others(406): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(382): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCT CTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG02622.hp1 others(2): Show HG01109.hp2 HG01175.hp1 HG02622.hp1 HG02896.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0020 a0001c0026 a0003c0008 others(1): Show a0001c0020 a0001c0026 a0003c0008 a0003c0024	a0001c0020t0001 a0001c0026t0056 a0003c0008t0005 others(2): Show a0001c0020t0001 a0001c0026t0056 a0003c0008t0005 a0003c0008t0006 a0003c0024t0005	a0001c0020t0001g0176 a0001c0026t0056g0071 a0003c0008t0005g0177 others(2): Show a0001c0020t0001g0176 a0001c0026t0056g0071 a0003c0008t0005g0177 a0003c0008t0006g0093 a0003c0024t0005g0175	5	26	0.1923	389	c.482 others(406): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCC TCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(382): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGA AGCGGGAGGAAGGGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAA GCGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAG CGGGAGGAAGGGGGAGGAAGGGGGGGAAGCGGGAGGAAGGGGGGGGAAGG GGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGG GAGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGA GGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	73	0.0137	389	c.207 others(406): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCC CCCTTCCTCCCGCTTCCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCTCCC CCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCC CTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCCC TTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCATTTCCTCCCACT TCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(382): Show ACACACACACTCACATACAGACACAACCACACCACACACACACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACATATACACACTCACATAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	316	0.0032	389	c.193 others(406): Show c.1938+733_1938+734insCACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACATATACACACTC ACATAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACACACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAT ACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(382): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	356	0.0028	389	c.-22 others(406): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894289	A A	ACACACAT others(382): Show ACACACATGCATACATATACACATGCACACAATGTACACACATGCACACA CACATGCACACACACATGCATACATATACACATGCACACAATGTACACAC ATGCACACACACATGCACACACACATGCATACATATACACATGCACACAA TGTACACACATGCACGCACACATGCATACATATACACATGCACACAATGT ACACACATGCACACACACATGCACACACACATGCATACATATACACATGC ACACAATGTACACACATGCACACACACATGCACACACACATGCATACATA TACACATGCACACAATGTACACACATGCACACACACATGCACACACACAT GCATACATATACACATGCACACAATGTACACACATGCACG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	273	0.0037	389	c.380 others(406): Show c.380-1805_380-1804insCGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTGTGTGCATGTGTGTGTGCATGTGTGTACATTG TGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGTGTGCATGTG TGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGT GTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGCGTG CATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCAT GTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTG TGTGTGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTATATGT ATGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975140	C C	CAGCCATG others(382): Show CAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATGTCAGAG GTCCACCCTGATCCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACC CTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGAC CCTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTGAC CTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGC CATGTCAGAGGTCCACCCTGATCCTCTGCTCCACATCTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	263	0.0038	389	c.151 others(406): Show c.151+1516_151+1517insAAAGATGTGGAGCAGAGGATCAGGGTGG ACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTG ACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGTGGACCTCTGACATGGC TAAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGT GAGGAGCAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGC AGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGG ATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGCCAGGG TGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGTGGACCT CTGACATGGCT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDH23_chr10_71391920_71820947	71688976	G G	GGTGGTGG others(382): Show GGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCG TGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAG TCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAG CCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGG GATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGATGG TGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02055.hp2 HG02257.hp1	a0030 a0056 a0030 a0056	a0030c0135 a0056c0160 a0030c0135 a0056c0160	a0030c0135t0018 a0056c0160t0001 a0030c0135t0018 a0056c0160t0001	a0030c0135t0018g0030 a0056c0160t0001g0141 a0030c0135t0018g0030 a0056c0160t0001g0141	2	138	0.0145	389	c.205 others(408): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGG AGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCA GGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGT GGTGGAGCCAACG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(382): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTT CCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCT TCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTC CTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0025 a0001c0001t0073g0025	1	2	0.5000	389	c.162 others(410): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT1_chr16_58514951_58634826	58586389	G G	GGAGGGCA others(382): Show GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGG GAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG AAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGG AGGGGGAGGGGAGGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGG AAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGA AGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGG AAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0026	1	295	0.0034	389	c.637 others(404): Show c.637+155_637+156insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCC CCTTCCCTTTCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCT CCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTC CCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCCTC CCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTC CCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGC CCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCTGCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586389	G G	GGAGGGCA others(382): Show GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGGAGG GGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGG GAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGG GAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGG AAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGA AGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGG AAAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0041	1	295	0.0034	389	c.637 others(404): Show c.637+155_637+156insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCTCC CCTTCCCTTTCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCT CCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTC CCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCC CCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCC CCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCC CTCCCCTTCCCCTCCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC CCTGCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(382): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGT TGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGA TGGCAGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 NA18747.hp1 others(4): Show HG00597.hp2 HG00673.hp1 NA18747.hp1 NA18954.hp2 NA18955.hp1 NA19079.hp2 NA19084.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0007 a0058	a0002c0001 a0003c0005 a0003c0077 others(4): Show a0002c0001 a0003c0005 a0003c0077 a0006c0009 a0007c0011 a0007c0012 a0058c0169	a0002c0001t0033 a0003c0005t0004 a0003c0077t0007 others(4): Show a0002c0001t0033 a0003c0005t0004 a0003c0077t0007 a0006c0009t0005 a0007c0011t0005 a0007c0012t0005 a0058c0169t0005	a0002c0001t0033g0145 a0003c0005t0004g0273 a0003c0077t0007g0269 others(4): Show a0002c0001t0033g0145 a0003c0005t0004g0273 a0003c0077t0007g0269 a0006c0009t0005g0090 a0007c0011t0005g0274 a0007c0012t0005g0257 a0058c0169t0005g0101	7	26	0.2692	389	c.371 others(408): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGTGG TGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGG GTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGT GGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGC others(382): Show AAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0002 a0003c0045t0002	a0003c0045t0002g0303 a0003c0045t0002g0303	1	294	0.0034	389	c.85- others(406): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(382): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG GAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAGGGATGGGGAGGGGG AGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGA AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGG AAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGG GGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	97	0.0103	389	c.923 others(408): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCC CCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCCCT CCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DNAAF5_chr7_721699_791475	742361	T T	TCAAATCA others(382): Show TCAAATCAGACGCCCAGCTCAAATCAATCAGATGCCCAGCCCAAATCAAG ACGCCCAGCTCAAATCACATGCCCAGCTCAAATCAATCATGCCCAGCTCA AATCACATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCAATCATGC CCAGCTCAAATCAGATGCCCAGCTCAAATCAATCAGATGCCCAGCCCAAA TCAGACGCCCAGCTCAAATCAATCAGATGCCCAGCCCAAATCAGACGCCC AGCTCAAATCACATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCAC ATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCAATCATGCCCAGCT CAAATCAGATGCCCAGCTCAAATCAATCAGATGCCCAGCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 NA18612.hp1 others(20): Show HG00621.hp1 HG02132.hp1 NA18612.hp1 NA18939.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18997.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19080.hp1 NA19086.hp1 NA19088.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0019 a0016c0028 a0001c0001 a0001c0019 a0016c0028	a0001c0001t0004 a0001c0019t0004 a0016c0028t0004 a0001c0001t0004 a0001c0019t0004 a0016c0028t0004	a0001c0001t0004g0024 a0001c0001t0004g0107 a0001c0001t0004g0108 others(19): Show a0001c0001t0004g0024 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0237 a0001c0019t0004g0174 a0016c0028t0004g0173	23	376	0.0612	389	c.102 others(408): Show c.1024+1070_1024+1071insAAATCAATCAGATGCCCAGCCCAAAT CAGACGCCCAGCTCAAATCAATCAGATGCCCAGCCCAAATCAGACGCCCA GCTCAAATCACATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCACA TGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCAATCATGCCCAGCTC AAATCAGATGCCCAGCTCAAATCAATCAGATGCCCAGCCCAAATCAGACG CCCAGCTCAAATCAATCAGATGCCCAGCCCAAATCAAGACGCCCAGCTCA AATCACATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATCACATGCCC AGCTCAAATCAATCATGCCCAGCTCAAATCAATCATGCCCAGCTCAAATC AGATGCCCAGCTC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(382): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATACATTATATTTTATATATTTATATAAATATA TTATATTTTATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0211 a0001c0001t0012g0211	1	205	0.0049	389	c.-53 others(408): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATAAAATATAATG TATTTATATAAATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAGT CATATATTATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAGT CATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(382): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	285	0.0035	389	c.157 others(404): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCAGTGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(382): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCC TCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCC CCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	102	0.0098	389	c.972 others(404): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTCCTTCCCCCT CCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTT CCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(382): Show TCCCGTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCC CCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTT CCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCAT CCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCT CCTTCCCCCTCCCTCCCCCTTCCCCCCTCCCCACCTTCCCTGTCCCCCTC CTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCT CCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	102	0.0098	389	c.972 others(404): Show c.972+266_972+267insGTCCTTCCCCCTCCTCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCT TCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCC TCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCAT CCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCC CCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCCTCCCCAC CTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCC CCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTC CCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33323045	C C	CGTATGGA others(382): Show CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATAT ATATATGGAATATATACGTATGGAATATATATATATGGAATATATACGTA TGGAATATATATATATGGAATATATACGTATGGAATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATATGGAATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATACGTATGGAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	100	0.0100	389	c.-20 others(400): Show c.-2011_-2010insGTATGGAATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGAATATATATATATGGAATATAT ACGTATGGAATATATATATATGGAATATATACGTATGGAATATATATATA TGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATA TATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1924		chr21	TogoVar
INPP5E_chr9_136423619_136444845	136431473	G G	GCCCCCCA others(382): Show GCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCA GGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCCAGGCCCTC ACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCT CATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCC GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCC CCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCC CCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0118 a0002c0010t0005g0118	1	367	0.0027	389	c.154 others(406): Show c.1549+350_1549+351insGCGGGCGTGGAGGGAGATGAGGAGAGGT GAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAAAGGTGAGGGCCT GCGGCGGGTGGGGGGAGGGTGGGCGTGGTGGGAGATGAGGAGAGGTGAGG GCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGG GGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCG TGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGCGGGCGTGGAGGGAG ATGAGGAGAGGTGAGGGCCTGGGGGGGGCGGGCGTGGAGGGAGATGAGGA GAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAG GGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
KLK6_chr19_50953631_50974591	50959669	A A	AGAGAGAG others(382): Show AGAGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGG AGGAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCA GGGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGGTGGAAGAG GAAGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAG GGGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	314	0.0032	389	c.583 others(404): Show c.583-354_583-353insCTCCTCCTCCCCTCCCCCTCCTCCTGCCCT CCTCCCCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCAT TTTCTCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCT CTTCCTCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCT CCCTCTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTT CTTCCTCTTCCTCTTCCACCTCCCTCTTTTCCTCCTCCTCTTCCTCCTCC TCCATCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCT TCCCTCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTT TTCTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(382): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCAC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	77	0.0130	389	c.-27 others(400): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LYPD8_chr1_248734415_248760759	248742461	C C	CGGGGAGA others(382): Show CGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTACGCT CTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGATGTTG GCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGT TACGCTCTGGTGGGGATGTTGGCAGTGGGGGAGGTTATGCTCTGGTGGGG ATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTGGCAGTGGGG GAGATTATGCTCTGGTGGGGATGTTGGCAGCAGGGGAGGTTACGCTCTGG TGGGGATGTTGGCAGTCGGGGGAGATTACGCTCTGGTGGGGATGTTGGCA GTCGGGGGAGATTATACTCTGGTGGGGATGTTGGCAGTCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	287	0.0035	389	c.476 others(406): Show c.476-2613_476-2612insCGACTGCCAACATCCCCACCAGAGTATA ATCTCCCCCGACTGCCAACATCCCCACCAGAGCGTAATCTCCCCCGACTG CCAACATCCCCACCAGAGCGTAACCTCCCCTGCTGCCAACATCCCCACCA GAGCATAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAACCTCCCC GGCTGCCAACATCCCCACCAGAGCATAACCTCCCCCACTGCCAACATCCC CACCAGAGCGTAACCTCCCCCGGCTGCCAACATCCCCACCAGAGCATAAT CTCCCCCGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAA CATCCCCACCAGAGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGC GTAATCTCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(382): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATTATACATTATATATAATGTATAATATATAT TATATATAATATACATTATATATAATGTATAATATATATTATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0119 a0004c0002t0001g0119	1	112	0.0089	389	c.299 others(410): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATTATAC ATTATATATAATGTATAATATATATTATATATAATATACATTATATATAA TGTATAATATATATTATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTATATATAATATACATAATGTATATTATATATAATATA CATAATGTATATTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19477857	G G	GGGGAGGG others(382): Show GGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGG GGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGG GGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGG AGAGAGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGCGGGGAGA GAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGAG AGAGGGGGGAGGGGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	152	0.0066	389	c.525 others(406): Show c.525+8624_525+8625insTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCC CCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCC CCCTCCCCCCTCTCTCCCCGCTCCCCCCTCTCTCCCCCCTCTCCCCCTCT CTCCCCCTCTCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTC TCCCCCCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar

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