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
VCX3A_chrX_6528618_6540118	6533181	T T	TCCTCTTC others(965): Show TCCTCTTCCTCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCTCCCTCC CTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCACACACCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTC CCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCCACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0001 a0019c0029t0001	a0019c0029t0001g0017 a0019c0029t0001g0017	1	74	0.0135	972	c.56 others(981): Show c.563_*564insTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT GGGAGGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		436		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(966): Show GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGG CAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGAGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGGGGG AACACATGGGGAGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATG GGGAGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGG GGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGG GGAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCA GAGGAGAACACATGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACAC ATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	308	0.0033	973	c.48 others(984): Show c.4853_*4854insTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCTCCTCTGCCCATGTGTTCTCCTCTGCCCCCCAT GTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCTCCCCATGTGTTCC CCCTCTGCCCCCATGTGTTCTCCTCTGCTCCCCATGTGTTCCCCCTCTGC CCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCT CCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCTCCATGT GTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(966): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	391	0.0026	973	c.36 others(984): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CFAP46_chr10_132803392_132947570	132822265	G G	GTGAGTGC others(966): Show GTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGA GTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGT GTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGA TGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGT GTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCGCTGTGTGCTGTGTGC TGATGTGTGCTGATGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTG ATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGTGCGCTGATGTGTGCTGT GTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGT GTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGACGTGTGCTGTGTGCTG ACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGT GTGAGTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGATGTGTGCTGTC TGTGCGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGTGCTGTGTG CTGTGTGTGCAGTGATGTGTGTTGTGTGAGTGCTGATGTGTGCTGTGTGT GCGCTGATGTGTGCTGTGTGCGCTTGTGTGTGCTGTGTGTGCGCTGATGT GTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTG AGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGC AGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTGT GTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTG CTGATGTGTGCACTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCGG TGATGTGTGCTGTGTGTGCGCTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0002 a0004c0028t0002	a0004c0028t0002g0002 a0004c0028t0002g0002	2	246	0.0081	973	c.711 others(992): Show c.7118-7352_7118-7351insTCAGCGCACACACAGCACACATCACC GCACACAGCACACATCAGCACACACACAGCACACAGTGCACACATCAGCA CACATCAGCACACACAGCACACAGCACACATCAGCACACACACAGCACAC ACAAGTGCACACACAGCACACATCAGCACTCACACAGCACACATCACTGC ACACACAGCACACATCAGCACACACAGCACACATCAGCACACAGCACTCA CACAGCACACATCAGCACACACAGCACACACAAGCGCACACACAGCACAC ATCAGCGCACACACAGCACACACAAGCGCACACAGCACACATCAGCGCAC ACACAGCACACATCAGCACTCACACAACACACATCACTGCACACACAGCA CACAGCACACACAGCACACATCAGCGCTCACACAGCACACAGCGCACAGA CAGCACACATCAGCACTCACACAACACACAGCACACATCAGCACTCACAC AGCACACAGCACACACACAGCACACATCAGCGCACACACAGCACACGTCA GCACACAGCACACGTCAGCACACATCAGCACACAGCACACATCAGCACAC ACAGCACACACAGCACACATCAGCACTCACACAGCACACAGCACACACAC AGCACACATCAGCGCACACACAGCACACAGCACACACACAGCACACATCA GCGCACACACAGCACACGTCAGCACACAGCACACATCAGCACACATCAGC ACACAGCACACAGCGCACACAGCACACATCAGCACTCACACAGCACACAC AACACACATCAGCACACACAGCACACATCAGCACTCACACAGCACACATC AGCGCTCACACAGCACACAGCACACACACAGCACACATCAGTGCACACAC AGCACACAGCACACACAGCACACATCAGCACACAGCACACATCAGCACTC ACACAGCACACACAACACACAGCACACACAGCACACATCAGCACTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822265	G G	GTGAGTGC others(966): Show GTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGA GTGCTGTGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTG TGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGATGT GTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGTGTG TGCTGTGTGAGTGCTGATGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGA TGTGTGCTGATGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATG TGTGCTGTGTGTGTGCTGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTG TGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTG CTGATGTGTGCTGTGTGCTGATGTGTGCTGACGTGTGCTGTGTGCTGACG TGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTG AGTGCTGATGTGTGCTGTGTGTTGTGTGAGTGCTGATGTGTGCTGTCTGT GCGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGTGCTGTGTGCTG TGTGTGCAGTGATGTGTGTTGTGTGAGTGCTGATGTGTGCTGTGTGTGCG CTGATGTGTGCTGTGTGCGCTTGTGTGTGCTGTGTGTGCGCTGATGTGTG CTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGAGT GCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGC AGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTGT GTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTG CTGATGTGTGCACTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCGG TGATGTGTGCTGTGTGTGCGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(6): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01952.hp1 HG02602.hp2 HG06807.hp1	a0003 a0036 a0003 a0036	a0003c0005 a0036c0097 a0003c0005 a0036c0097	a0003c0005t0001 a0003c0005t0002 a0036c0097t0001 a0003c0005t0001 a0003c0005t0002 a0036c0097t0001	a0003c0005t0001g0220 a0003c0005t0001g0221 a0003c0005t0001g0222 others(6): Show a0003c0005t0001g0220 a0003c0005t0001g0221 a0003c0005t0001g0222 a0003c0005t0001g0223 a0003c0005t0001g0225 a0003c0005t0001g0226 a0003c0005t0001g0227 a0003c0005t0002g0016 a0036c0097t0001g0125	9	246	0.0366	973	c.711 others(992): Show c.7118-7352_7118-7351insTCAGCGCACACACAGCACACATCACC GCACACAGCACACATCAGCACACACACAGCACACAGTGCACACATCAGCA CACATCAGCACACACAGCACACAGCACACATCAGCACACACACAGCACAC ACAAGTGCACACACAGCACACATCAGCACTCACACAGCACACATCACTGC ACACACAGCACACATCAGCACACACAGCACACATCAGCACACATCAGCAC TCACACAGCACACATCAGCACACACAGCACACACAAGCGCACACACAGCA CACATCAGCGCACACACAGCACACACAAGCGCACACAGCACACATCAGCG CACACACAGCACACATCAGCACTCACACAACACACATCACTGCACACACA GCACACAGCACACACAGCACACATCAGCGCTCACACAGCACACAGCGCAC AGACAGCACACATCAGCACTCACACAACACACAGCACACATCAGCACTCA CACAGCACACAGCACACACACAGCACACATCAGCGCACACACAGCACACG TCAGCACACAGCACACGTCAGCACACATCAGCACACAGCACACATCAGCA CACACAGCACACACAGCACACATCAGCACTCACACAGCACACAGCACACA CACAGCACACATCAGCGCACACACAGCACACAGCACACACACAGCACACA TCAGCGCACACACAGCACACGTCAGCACACAGCACACATCAGCACACATC AGCACACAGCACACAGCGCACACAGCACACATCAGCACTCACACAGCACA CACAACACACATCAGCACACACAGCACACATCAGCACTCACACAGCACAC ATCAGCGCTCACACAGCACACAGCACACACACAGCACACATCAGTGCACA CACAGCACACAGCACACACAGCACACATCAGCACACAGCACACAGCACTC ACACAGCACACACAACACACAGCACACACAGCACACATCAGCACTCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATAGTATATA TATTATATATGCAATATATATTATATATTACACATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATTATATATG TAATATATATTATATATTATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATAGTATATATATTATATATGCAATATATATTATATA TTACACATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATTACATATGTAATATATATTATATATGTAATATATATTACATATATTAC ATATGTAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATGT AATATATTACATATATAATATATATTACATATATAATATATATTATATAT GTAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATATTATATATTACATATGTAATAT ATATTACATATGTAATATATATTATATATGTAATATATATTACATATATT ACATATGTAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATTATATATG TAATATATATTATATATTATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATGT AATATATTACATATATAATATATATTACATATATAATATATATTATATAT GTAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATTATATATT ATATATGTAATATATATTATATATGTAATATATATTATATATGTAATATA TATTATATATGTAATATATAATATATATTATATATGTAATATATATTATA TATGTAATATATATTATATATGTAATATATTACATATATAATATATATTA CATATATAATATATATTACATATGTAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATTATATATTATATATGTAATATATATTATATATGTA ATATATATTATATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATTACATATATAATATATATTACATATATAATATATATTACATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATTATATATGTAAT ATATATTATATATTATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATATTATATATTACATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATATTACATATA TTACATATGTAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATATTACATATGTAATA TATATTATATATGTAATATATAATATATATTACATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATGTAATATATATTATAT ATGTAATATATTACATATATAATATATATTACATATATAATATATATTAT ATATGTAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATTATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTACATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTACATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATTATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATTACATATGTAATATATATTATATATGTAATATATATTACATATATTAC ATATGTAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATAATATATATTACATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATGT AATATATTACATATATAATATATATTACATATATAATATATATTATATAT GTAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(966): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATAATATATATTAT ATATGTAATATATATTACATATGTAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATATTATATATGTAATATATAATATATATTATATATGTAATA TATATTATATATGTAATATATTACATATATAATATATATTACATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATAATATATAT TATATATGTAATATATATTATATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	236	0.0042	973	c.342 others(994): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATAATATATATTATATATGTAATATATATTACATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATGTAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATATTATATATGTAATATA TAATATATATTATATATGTAATATATATTATATATGTAATATATTACATA TATAATATATATTACATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATAATATATATTATATATGTAATATATATTATATATAT AATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CAGATAAG others(966): Show CAGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGAC TACTGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGA TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACACGGGATGAGGATAAGGGGGGACTACTGTATACA CATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGGATA AGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGT ATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGA GGATGAGGGACTATTGTATACACACCAGATGATGATAAGGGGGACTACTG TATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACG GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTG TACACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATG AGGATAAGGGGGACTACTGTATACACACTGGATGAGGATAAGGGGGGACT ACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCG GATGAGGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGC GACTACTGTATACACACCAGATGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	370	0.0027	973	c.891 others(990): Show c.891+1165_891+1166insTCATCTGGTGTGTATACAGTAGTCGCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGGT GTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCAGTGTGTATACAGTAGTCCCCCTTATCCTCATC CGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTG TGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGT AGTCCCCCTTATCATCATCTGGTGTGTATACAATAGTCCCTCATCCTCAT CCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAG TAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTA TACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCT CCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(966): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	223	0.0045	973	c.-42 others(984): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCACTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(966): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCCCTCTCCCCCCTCCCCCTTCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCGCCCCCCTCCCTCTCTCCTCTCCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCTCTCCCCCTTTCTTCCTCTCCCCTCTCCCTCTCTACCT CTCCCCCTCTCCCTTGCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCT CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCT CTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCTCTCTCCCTCTCCCCCTC TCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTC CCTCTCTCCCTCTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCT CCCCCTCCCCCTCCCCCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCACCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCC CTCCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	320	0.0031	973	c.380 others(990): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCCCTCTCCCCCCTCCC CCTTCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCGCCCCCCTCCCTCTCTCCT CTCCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCTCTCCCCCTTTCTTCCTCTCCCC TCTCCCTCTCTACCTCTCCCCCTCTCCCTTGCCCCGTCTCCCTCTCTCCC TCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCC TGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCTCT CTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCT GCCTCTCCTCCTCTCCCTCTCTCCCTCTCCCCTCTCCCCCTCTCCCTCTT TCCCTCTCCCCATCTCCCCCTCCCCCTCCCCCCCCCCCTTCTCCCTCTCC CACCCTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCA CCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCCTCTCCCCCTCCCTC TCTCCCTCTCTCCCCCTCCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(966): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCATGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGAAACACGGCCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGT GTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	348	0.0029	973	c.928 others(988): Show c.928-427_928-426insCACCCACAGATACACGGCCCCCCATGTCAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCACAGATACACG GCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAA CACGGCCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAH10_chr12_123757301_123940714	123911548	G G	GGGGGGTC others(966): Show GGGGGGTCTGTCCCGGGGGGGACTGTCCTGGGGGGGTCTGTCCCAGGGGA TCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTC CTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGT TTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGT CCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCC GGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGACTGTCCTGGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCCGGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTC CTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGG TCTGTCCTGGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCT GTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCT GGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTG GGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGG GTCTGTCCTGGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTC TGTCCTGGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0115 a0006c0027t0001g0115	1	170	0.0059	973	c.101 others(992): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGGACTGTCCT GGGGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGG GTCTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGT CCTGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTG GTCTGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCC CGGGGGGGACTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGG GGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGGTCTGTCCCAGGGG ATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGT CCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCAGGGGGTCTGTCCTG GGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGGTCTGTCCTGGAGGT GTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTC TGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCT GGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGG GGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTC CTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGCGTCTGTCCTGGGA GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619524	T T	TGCTCCCC others(966): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCCCCCTGCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCCCGCTCCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCCCCCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	250	0.0040	973	c.-10 others(992): Show c.-107+5814_-107+5815insCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCCCGCTCCCCCTCCCTGCAGCTCCCTGC CCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM120B_chr6_170301758_170412067	170399756	G G	GAAGGTAG others(966): Show GAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAAGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	289	0.0035	973	c.269 others(992): Show c.2692+4236_2692+4237insCCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGA AAGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399756	G G	GAAGGTAG others(966): Show GAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGCAGT GAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	289	0.0035	973	c.269 others(992): Show c.2692+4236_2692+4237insCCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGCAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399756	G G	GAAGGTAG others(966): Show GAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01192.hp1 others(12): Show HG00738.hp1 HG00741.hp1 HG01192.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp1 HG02273.hp2 HG02896.hp1 HG03239.hp1 HG03471.hp1 HG03831.hp2 HG03942.hp2 NA18968.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 a0001c0001 a0001c0006 a0001c0016	a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 a0001c0001t0001 a0001c0006t0001 a0001c0016t0001	a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 others(12): Show a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0006t0001g0253 a0001c0006t0001g0254 a0001c0016t0001g0252	15	289	0.0519	973	c.269 others(992): Show c.2692+4236_2692+4237insCCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399756	G G	GAAGGTAG others(966): Show GAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCGTAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	289	0.0035	973	c.269 others(992): Show c.2692+4236_2692+4237insCCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCGTAACTCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(966): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATATTATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATAATATATATTTTATATATATTATATATTTTATATATAATATA TATTTTATATATATTATATATTTTATATATAATATATATATATTATATAT AATATATATTATATATAATATATATATTATATAAAATATATAATATATAT CTTATATATATCATATATTTTATATATATCATATATTTTATATATATCAT ATATTTTATATATAATATATATTATATATACATTATATAATATATATTAT ATTATATATAATATATTATATAATATATATTATATATTATACGTAATATA TAATGTATATTATATATAATATACATTATATAATGTATATTATATATAAT ATACATTATATACAATGTATATTATATATAATATACATTGTATATAATGT ATATTACATATAATATACATTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTA CATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTA TATATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTA TATGTAATATATACATTATATATAATGTATATATTATATGTAATATATAC ATTATATATAATGTATATATTACATGTAATATATACATTATATATAATGT ATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	350	0.0029	973	c.94- others(986): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAAT ATATATATATTATATATAATATATATTATATATAATATATATATTATATA AAATATATAATATATATCTTATATATATCATATATTTTATATATATCATA TATTTTATATATATCATATATTTTATATATAATATATATTATATATACAT TATATAATATATATTATATTATATATAATATATTATATAATATATATTAT ATATTATACGTAATATATAATGTATATTATATATAATATACATTATATAA TGTATATTATATATAATATACATTATATACAATGTATATTATATATAATA TACATTGTATATAATGTATATTACATATAATATACATTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT GTATATAATGTATATTACATATAATATACATTATATATAATGTGTATATT ACATGTAATATACATTATATATAATGTATATTATATGTAATATATACATT ATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATA TTATATGTAATATATACATTATATATAATGTATATATTACATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(966): Show TGGTGGGGGTGATGACGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGTGAT GGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGG TGATGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGAT GACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGATGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGT GATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGGTGGGGGTGGGGG TGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATG ATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGT GAGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGATGATGGTGGGG GTGGGGGTGGGGGTGGGGGTGAGGGTGATGACGGTGGGGGTGGGGGTGGG GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGGGAGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGATGATGGTGGGGGT GGGGGTGGGGGTGGGGGTGAGGGTGATGACGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0176 a0006c0012t0001g0176	1	186	0.0054	973	c.956 others(990): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCCC CACCCCCACCCCCACCGTCATCACCCTCACCCCCACCCCCACCCCCACCC CCACCATCATCACCCCTACCATCACCATCATCACCCCCACCCCCACCGTC ATCACCCCCACTCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCCCCACCCCCACCGTCATCACCCTCACCCCCACCCCCACCCCCACCCCC ACCATCATCACCCCTACCATCACCATCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCACCC CCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACCCC CACCCCCACCACCCTCACCATCATCACCCCCACCCCCACCATCATCACCC CCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCA CCCCTACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACC ATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACCATCACCAC CCCCACCATCACCGTCATCACCCCCACCCCCACCCCCACCCCCACCATCA CCACCCCCATCATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCA TCACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATC ACCATCATCACCCCCACCCCCACCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(966): Show TATATATATTATATACATATTTTATATATAATATATATATTATATACATA TTTTGTATATATAATATATATTATATACATATTTTATATATATAATATAT ATATTATATACATATTTTATATATATAATATATATATTATATACATATTT TATATATATAATATATATATTATATACATATTTTATATATATAATATATA TTATATACATATTTTATATATATTATATATTATATACATATTTTATATAT ATAATATATATATTATATACATATTTCATATATATAATATATATTATATA CATATTTCATATATAATATATATATTATATACATATTTTATATTATATAT ATTATATACATATTTTATATATTATATATATTATATACATATTTTATATA TTATATATATTATATACATATTTTATATATAATATATATAATATACATAT TTTATATATTATATACATATTTTATATATATAATATATATAATATACATA TTTTATATATATAATATATATAATATACATATTTTATATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATATAATATATATAATATACATATTTTATATATATAATATATATAATAT ACATATTTTATATATATAATATATATAATATACATATTTTATATATAATA TATATAATATACATATTTTATATATATAATATATATTATATACATATTTT ATATATATAATATATATTATATACATATTTTATATATATAATATATATTA TATACATATTTTATATATATAATATATATTATATACATATTTTATATATA TAATATATATTATATACATATTTTATATATAATATATATTATATACATAT TTTATATATATAATATATATTATATACATATTTTATATATATAATATATA TTATATACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	108	0.0093	973	c.648 others(992): Show c.648-15369_648-15368insATATATATATTATATACATATTTTGT ATATATAATATATATTATATACATATTTTATATATATAATATATATATTA TATACATATTTTATATATATAATATATATATTATATACATATTTTATATA TATAATATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATATTATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTCATATATATAATATATATTATATACATATT TCATATATAATATATATATTATATACATATTTTATATTATATATATTATA TACATATTTTATATATTATATATATTATATACATATTTTATATATTATAT ATATTATATACATATTTTATATATAATATATATAATATACATATTTTATA TATTATATACATATTTTATATATATAATATATATAATATACATATTTTAT ATATATAATATATATAATATACATATTTTATATATATAATATATATAATA TACATATTTTATATATATAATATATATAATATACATATTTTATATATATA ATATATATAATATACATATTTTATATATATAATATATATAATATACATAT TTTATATATATAATATATATAATATACATATTTTATATATAATATATATA ATATACATATTTTATATATATAATATATATTATATACATATTTTATATAT ATAATATATATTATATACATATTTTATATATATAATATATATTATATACA TATTTTATATATATAATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATAATATATATTATATACATATTTTATA TATATAATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATATAATATATATTATATACATATTTTATATATA	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(966): Show GCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCCTCCCCTTCCCTCCCCTCCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCCCATCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCC CTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTCCCCCTCCCC TCCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCGTCCCCC CTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCCTCTGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0060 a0013c0060	a0013c0060t0004 a0013c0060t0004	a0013c0060t0004g0157 a0013c0060t0004g0157	1	278	0.0036	973	c.115 others(990): Show c.1157+146_1157+147insCTCCCCTCCCCCCCTCCCCTCCCTTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTTCCCTCCCC TCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCTC CCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCTCCCCCCATCCCCTCCCCCCCTCCCCC CTCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCC CTCTCCTCCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCC CCTTCCGTCCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTT CCCCTCCCCCTTCCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCT ACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGC CCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCA CCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCTCCTCCCCCTC CCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACC CCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCCTCCCTTCCCTCTCCTGT CCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(966): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGGAAAAGGGGTCGGGGAAGGGGGGAA AAGGGGCGGGGGAAGGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGAGGGGAAGGGGGGAAGGGGGGAAAGGGGTGAGGGGGAGGATGG AGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGATGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGAGGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGGAGGGAGGGGAGGGGA GTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG GGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAG TGGAGGGGGAGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGAGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGA GGGAGGGGAGGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	272	0.0037	973	c.250 others(988): Show c.250+583_250+584insACCCTCCCTCCCCCCTCCCCTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCTCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCC TCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCT CCCCTCCCTCCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCT CCCCTCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCCCCTCCCCCTCCCCTCCCATCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCATCC TCCCCCTCACCCCTTTCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCCCCCGCCCCTTTTCCCC CCTTCCCCGACCCCTTTTCCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(966): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGAGGGG AGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGAGGTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGG AGGAGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGG GGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGA GGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAG GGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGG GGGGGAGGGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAA GGGGGAGGGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGA GGGGAGGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGA GGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGG AAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAG TGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAG GGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGG AGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGG AGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	208	0.0048	973	c.279 others(988): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTC CTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTT CCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCC CCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGGAG others(966): Show AGAAGGAGAGGGGAAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGAA GGAGAAGGGAGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGGAGGG AGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGG AGGGGGGAGAGGGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAGTAGGGGAGGGGGGGA GGGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGG AGGGAGGAGGGGAAGAAGGGGGAGGGGGGAGGGAGGGGTGAGGGGGAGGG GAGGAGGGGGGAGGGGAGGAGAGGGTGAGAGGAGGAGAGAGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGG AAGGGGAGGGGAGGAGTGGAGAGGAGGATGGAGGGGAGGGGAGGGAGGAG TGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAG GGAAGGGAGGGAGGGGAGGGGTTGCGGGAGGGGAGGGGTGCGGGGAGGGA GGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGA GAGTGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0017 a0017	a0017c0045 a0017c0045	a0017c0045t0001 a0017c0045t0001	a0017c0045t0001g0154 a0017c0045t0001g0154	1	208	0.0048	973	c.279 others(988): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCACTCTCCACT CCTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCTC CCCGCACCCCTCCCCTCCCGCAACCCCTCCCCTCCCTCCCTTCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCTCCCCTCCCCTCCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCTCCC CTCCTCTCTCCTCCTCTCACCCTCTCCTCCCCTCCCCCCTCCTCCCCTCC CCCTCACCCCTCCCTCCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCC TTCCTCCCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCC CCTCCCCTACTCCCCTCCTCCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCCCTCTCCCCCCTCCCCTC CTCCCCCCCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCT CCCCTCCCCCCTCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCC CCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTT CCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCTCCCTTCTCCTTCCCC TCCCCTTCCCTCCCTTCCCTTCTCCCCCCTTCCCCTCTCCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OPCML_chr11_132409981_133537501	133354205	G G	GTGGTGGT others(966): Show GTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCCGGG GTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTGATG GTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGATGGT AGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGTGAT GGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGGTGA TGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATGGTG GTGACAGTGATGGTCACGGTGATGGTAGTGGGGCTAGTGGTGGTGGTAGT GATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGTTGA TAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTGGTG ACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTGGTG GTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCTGGT GGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGATAG TGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGATGG CGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTGCTG GGGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGTGAT AGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATAATGGTGATA GTGGTGGTGGTAGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAAT GGTGATAGTGGTGGTGGTAGTGGTGGTGATGATGCTGGTGGTGATGGTGG TGGTAATGGTGATAGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG00642.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0003 a0001c0001t0002g0032	2	68	0.0294	973	c.61+ others(992): Show c.61+178058_61+178059insTCACCACCACTATCACCATTACCACC ACCATCACCACCAGCATCATCACCACCACTACCACCACCACTATCACCAT TATCACCACCATCACCACCAGCATCATCACCACCACTACCACCACCACTA TCACCATTATCACCACCATCACCACCAGCATCACCATCACCACCGCCATC ATCACTACCACTACCACCACCACCATCACCACCACCACCACCATCACTAT CACCACCACTACCACCACCACTATCACCATTATCACCACCATCACCCCCA GCACCAGCATCATCACCACCATCACCACCAGCATCACCATCACCACCGCC ATCATCACTACCACCACCAACATGTCACCACCACCAGCATCATCATCACT ATCACCACTACTACCACCACCACTATCACCATTATTACCACCATCACCAC CAGCACCAGCATCATCACCACCACCATCAACATTATCACCACCATCACCA CCAGCATCACCGTCACCACTGCCATCATCACTACCACCACCAACATGTCA CCACCACCAGCACCATCATCACTATCACCACCACCACCACCACCACTATC AACATTATCACCACCATCACCACCAGCATCATCACCACCACCATCATCAC TACCACCACCACTAGCCCCACTACCATCACCGTGACCATCACTGTCACCA CCATCACTAGCACTACCACCATCACCACCACCAACAGCATCATCACCATC ACCATCATCACCACCACCAGCATCATCACTATCATCACTACCATCACCAT CACCACCATCATCACCACTAGCACTATCAACATCACCACCACCACACTAC CATCACCATCACCACTCCCACTGCCATCACCACCGGCATCGGCATCACCA TCACAATTATCACCACCCAATCACCACAACCACCAGCATCATCGTCACCC CGGCCATCACCATCACCACCAGCATCATTACGTCATCACCACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(966): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	227	0.0044	973	c.23 others(984): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCACTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGAGGGGA others(966): Show AGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGA GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGAGGGGACAGGGCGAGAGGGGGGACAGGGCGAGAGGGGGACAGGGCG GGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGAGGGGACAGGGCGAG AGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGAA CAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACA GGGCGAGAGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	133	0.0075	973	c.351 others(992): Show c.351+14310_351+14311insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTT CCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCT CGCCCTGTCCCCTCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCTCGCCCTGTCCCCCCTCTCGCCCTGTCCCCTCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCTCGCCC TGTCCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTG TCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGT CCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCTCGCCCTGTC CCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(966): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACA GTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAG TCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACA GGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	973	c.-33 others(984): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(966): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCG CACCACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAG TCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACA GGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0127 a0001c0001t0020g0127	1	133	0.0075	973	c.-33 others(984): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(966): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACAT CAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	456	0.0022	973	c.732 others(988): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTT TGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAA GACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTG GAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAG AGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTG GAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAG AGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTG GAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(966): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATTATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACTATATATTATA TATATATATTATATATTATATAACATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	268	0.0037	973	c.73 others(984): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATTATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATTATATATTA TATAACTATATATTATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(966): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATTATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATTATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACTATATATTATA TATATATATTATATATTATATAACATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATTATATATTATATAACTATATATTATATATTATATATATT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	268	0.0037	973	c.73 others(984): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATTAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATTATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACTATATATTATATATATATATTATATATTATATAACATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATTATATATATTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(966): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATTATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATATATTATATATTATATAACTATATATTATATATTATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATATATATTATATATTATATAACTATATATTATATA TATATATTATATATTATATAACATATATTATATATATATATTATATATTA TATAACTATATATTATATATATATATTATATATTATATAACTATATATTA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	268	0.0037	973	c.73 others(984): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATTAT ATATATATTATATATTATATAACTATATATTATATATATATTATATATTA TATAACTATATATTATATATATATTATATATTATATAACTATATATTATA TATTATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATATATATTATATATTATATA ACTATATATTATATATATATATTATATATTATATAACATATATTATATAT ATATATTATATATTATATAACTATATATTATATATATATATTATATATTA TATAACTATATATTATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(966): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCA TCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCC ACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCAT CCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCT ACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCC ACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCC ATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCC ACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCT ATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCA TCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTA TCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACA CCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCC ACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCC ACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCC AGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCT ATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0242 a0001c0001t0010g0242	1	258	0.0039	973	c.113 others(992): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCACCATCCCCCATCCTATCCACCCCC CATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACC CACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATC CACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCATC CTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCAT CCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCAT CCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCC ACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACC TACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACC CATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACC CACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATT CATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATC CATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCC AGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCC TATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCC TATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACC CACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTAT TCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACC CTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(966): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCA TCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCC ACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCAT CCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCT ACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCC ACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCC ATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCC ACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCT ATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCA TCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTA TCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACA CCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCC ACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCC ACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCC AGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCT ATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp1 HG02257.hp1 others(2): Show HG01099.hp1 HG01261.hp1 HG02257.hp1 HG02922.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0054 a0001c0001t0002g0237 a0001c0001t0003g0089 others(2): Show a0001c0001t0002g0054 a0001c0001t0002g0237 a0001c0001t0003g0089 a0001c0001t0003g0121 a0001c0001t0011g0055	5	258	0.0194	973	c.113 others(992): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCACCATCCCCCATCCTATCCACCCCC CATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACC CACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATC CACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCATC CTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCAT CCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCAT CCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCC ACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACC TACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACC CATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACC CACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATT CATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATC CATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCC AGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCC TATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCC TATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACC CACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTAT TCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACC CTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(966): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTG TATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGT ATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTG TGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG TTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATA TTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	432	0.0023	973	c.199 others(990): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTG TATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATA ACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGT AAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(966): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTG TATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGT ATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTG TGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG TTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATA TTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 HG02886.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0208 a0001c0001t0002g0209	2	432	0.0046	973	c.199 others(990): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTG TATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATA ACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGT AAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(966): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATA TGTATGCGTATCTGTGTCCTTATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTAT GCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTA TGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTT ATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTG TGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG TTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATA TTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0236 a0001c0001t0022g0236	1	432	0.0023	973	c.199 others(990): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTG TGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTTATCCCTTCTAAGG ATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTAT GTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATG TTTATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTAT GCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTG TGTGTGTGTATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAG GATAACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGT AAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GTGTGTGT others(966): Show GTGTGTGTATGTGTGTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATGTGTATGTATGTGTATGTGTGTGTGTATGTGTGT GTGTATGTGTGTGTATATGCGTGTATATGCGTGTGTATATGTGTGTGTAT GTGTGTGTATATGCGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGT GTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTGT ATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGT GTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGT GTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGT GTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTAT ATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATGC GTGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTATGCGTGTGT ATATGCGTGTGTATGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATGT GTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGT ATATGTGTGTATGCGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGT GTGTATATGTGTATATGTGTGTGTATATGTGTGTATATGTGTGTGTATAT GCGTGTGTATATGCGTGTGTATATGCGTGTGTATGCGTGTGTATGTGTGT GTATGTGTGTGTGTATATGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0394 a0002c0002t0002g0394	1	468	0.0021	973	c.-6- others(988): Show c.-6-2965_-6-2964insTGTGTGTATGTGTGTGTGTGTATATGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTATGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTATGTATGTGTA TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTATATGCG TGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTA TGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTATGCGTGTGTATATG TGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTA TGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTG TATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTG TATGTGTGTGTATATGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTG TATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATG CGTGTGTGTATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTG TATGCGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATA TGTGTGTGTATGTGTGTGTATATGTGTGTATGCGTGTGTGTATGTGTGTG TGTATGTGTGTGTGTATGTGTGTATATGTGTATATGTGTGTGTATATGTG TGTATATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTG TATGCGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
VCX3A_chrX_6528618_6540118	6532792	C C	CCCTCCCT others(966): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCCTC TTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTATTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACC TCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCAC ACACCTCTTCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTC CTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	973	c.95 others(982): Show c.952_*953insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA TAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		825		chrX	TogoVar
ZDHHC11B_chr5_705355_789729	754196	C C	CCTCCACC others(966): Show CCTCCACCATGCTCAGGGGAAACACCTCTCGCCTATGAGCCTCCACCATG CTCAGGGGAAAGACCTCTCACCTGTGAGCCTCCACCATGCTCAGTGGAAA CACCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATC TATGAGCCTCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGAGCCTCC ACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGTGCTCAG GGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAACACCTC TCGTCTATGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATCTGTGAG CCTCCACCATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCCACCGTG CTCAGGGGAAACACGTCTCATCTATGAGTCTCCACTGTGCTCAGGGGAAA CACCTCTCATCTATGAGCCTCCACCATGCTCAGGGGAAACATCTCTCGTC TATGAGCCTCCACCATGCTCAGGGGAAACACCTCTCGCCTATGAGCCTCC ACCATGCTCAGGGGAAAGACCTCTCACCTGTGAGCCTCCACCATGCTCAG TGGAAACACCTCTCATCTGTGAGCCTCCACCGTGCTCAGGGGAAACACCT CTCATCTATGAGCCTCCACCATGCTCAGGAGAAACACCTCTCGCCTGTGA GCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTGTGAGCCTCCACCGT GCTCAGGGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGAAA CACCTCTCGTCTATGAGCCTCCACCGTGCTCAGGGGAAACACCTCTCATC TGTGAGCCTCCACCATGCTCAGCGGAAACACCTCTCGTCCTTGAGCCTCC ACCGTGCTCAGGGGAAACACGTCTCATCTATGAGTCTCCACTGTGCTCAG GGGAAACACCTCTCATTTATGAGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG02027.hp2 others(12): Show HG01106.hp2 HG01346.hp2 HG02027.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18944.hp2 NA18950.hp1 NA18955.hp1 NA18983.hp2 NA18994.hp2 NA18997.hp1 NA19003.hp1 NA19003.hp2 NA19080.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0010 a0016 a0019	a0001c0011 a0001c0023 a0003c0007 others(6): Show a0001c0011 a0001c0023 a0003c0007 a0005c0027 a0005c0066 a0007c0019 a0010c0059 a0016c0062 a0019c0058	a0001c0011t0015 a0001c0023t0036 a0003c0007t0009 others(10): Show a0001c0011t0015 a0001c0023t0036 a0003c0007t0009 a0003c0007t0023 a0003c0007t0041 a0005c0027t0014 a0005c0027t0023 a0005c0066t0014 a0007c0019t0014 a0007c0019t0030 a0010c0059t0009 a0016c0062t0023 a0019c0058t0009	a0001c0011t0015g0144 a0001c0011t0015g0145 a0001c0023t0036g0250 others(12): Show a0001c0011t0015g0144 a0001c0011t0015g0145 a0001c0023t0036g0250 a0003c0007t0009g0178 a0003c0007t0009g0185 a0003c0007t0023g0116 a0003c0007t0041g0035 a0005c0027t0014g0188 a0005c0027t0023g0179 a0005c0066t0014g0180 a0007c0019t0014g0174 a0007c0019t0030g0032 a0010c0059t0009g0054 a0016c0062t0023g0181 a0019c0058t0009g0187	15	271	0.0554	973	c.503 others(988): Show c.503+801_503+802insACTCATAAATGAGAGGTGTTTCCCCTGAGC ACAGTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGC TCAAGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAG AGGTGTTTCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCC CTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTG GAGGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAG GCGAGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGT TTCCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGC ATGGTGGAGGCTCACAGGTGAGAGGTCTTTCCCCTGAGCATGGTGGAGGC TCATAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAGGCTCATAGACGAG AGATGTTTCCCCTGAGCATGGTGGAGGCTCATAGATGAGAGGTGTTTCCC CTGAGCACAGTGGAGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGT GGAGGCTCAAGGACGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACA GATGAGAGGTGTTTCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTG TTTCCCCTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGC ACGGTGGAGGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGC TCACAGGCGAGAGGTGTTTCTCCTGAGCATGGTGGAGGCTCATAGATGAG AGGTGTTTCCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCA CTGAGCATGGTGGAGGCTCACAGGTGAGAGGTCTTTCCCCTGAGCATGGT GGAGGCTCATAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAG	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13			chr5	TogoVar
ZNF419_chr19_57482750_57501098	57485569	T T	TATAGACT others(966): Show TATAGACTGTAGGGGTGGGTTGCCCCTACACATCTGTGGGTGTTTCTCGT AAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATA GAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGAT CCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTT TCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGAG TCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAAA GGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATGC TTTACAAAGCAGTATTGATGCCCGCAGGTCCCACCTCCAGCCCTAAGGCG GTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAG ACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCT CAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGA CCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACG AGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGG CTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGG GTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTCAAC TCTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGG TTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAAC AAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAAT CTGATCTCTCTTCCTTTTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG03225.hp1 HG01069.hp1 HG03225.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0056 a0002c0010t0057 a0002c0010t0056 a0002c0010t0057	a0002c0010t0056g0021 a0002c0010t0057g0021 a0002c0010t0056g0021 a0002c0010t0057g0021	2	418	0.0048	973	c.-23 others(984): Show c.-2382_-2381insATAGACTGTAGGGGTGGGTTGCCCCTACACATCT GTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACA CAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTT CAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGA TCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACA ATTGTGGGGAGAGAGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCAT CATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACA TAAACATCTCAATGCTTTACAAAGCAGTATTGATGCCCGCAGGTCCCACC TCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATC GGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGAT GCCTTCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAAT CCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGT CTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACC TTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAG TTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAG GAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCC CTTAATCCATTCAACTCTGAGTTGACACAGCACATGTTTCAGAGAGCACG GGGTTGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTT TTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACAC AGACACAGTAACAATCTGATCTCTCTTCCTTTTCCCCAC	ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding		2180		chr19	TogoVar
ZNF419_chr19_57482750_57501098	57485573	G G	GACTGTAG others(966): Show GACTGTAGGGGTGGGTTGCCCCTACACATCTGTGGGTGTTTCTCGTAAGG TGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGA AAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCG CCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTC AAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGAGTCAG CAGACAAACACGTGAACAAAGGTCTTTGCATCATAGACAATGTAAAGGAT TAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATGCTTTA CAAAGCAGTATTGATGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTT TTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACAT TCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAAC TGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCT TTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGC CATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTT CCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTAC TTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGC ATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTCAACTCTG AGTTGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTAAGGTTAT AGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAA TGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGA TCTCTCTTCCTTTTCCCCACATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0055 a0006c0020t0055	a0006c0020t0055g0040 a0006c0020t0055g0040	1	418	0.0024	973	c.-23 others(984): Show c.-2378_-2377insACTGTAGGGGTGGGTTGCCCCTACACATCTGTGG GTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGA GACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGC ATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCAT CTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTG TGGGGAGAGAGTCAGCAGACAAACACGTGAACAAAGGTCTTTGCATCATA GACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAA CATCTCAATGCTTTACAAAGCAGTATTGATGCCCGCAGGTCCCACCTCCA GCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGT TTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCT TCCTCTTGTCTCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTC CTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTT CCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGG ACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTT TGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGC ATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTA ATCCATTCAACTCTGAGTTGACACAGCACATGTTTCAGAGAGCACGGGGT TGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCT TAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGAC ACAGTAACAATCTGATCTCTCTTCCTTTTCCCCACATAA	ZNF419	ENSG00000105136.22	transcript	ENST00000221735.12	protein_coding		2176		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAGATAAA others(967): Show TAGATAAATATATAAATATATAAATATATATATATTTATAGATAAATATA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATATA TATTTATAGATAAATATATAAATATATATATATTTATAGATAAATATATA TATATAAATATTTATATATTTATAGATAAACGTATAAATATTTATATATT TATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATA TTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAA CGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTTTATATT TATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATA TTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAA CGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATT TATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATA TTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAA CGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATT TATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATA TTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAA CGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATT TATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATA TTTTTATATTTATAGATAAACGTATAAGTATTTTTATATTTATAGATAAA CGTATAAGTATTTTTATATTTATAGATATATAAATATATAAATATTTTTA TATTTATAGATATATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0034 a0001c0006t0034	a0001c0006t0034g0114 a0001c0006t0034g0114	1	306	0.0033	974	c.130 others(993): Show c.1308+1324_1308+1325insTTATATATTTATATATCTATAAATAT AAAAATATTTATATATTTATATATCTATAAATATAAAAATACTTATACGT TTATCTATAAATATAAAAATACTTATACGTTTATCTATAAATATAAAAAT ATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAA ATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGT TTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAAT ATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAA ATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGT TTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAAT ATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAA ATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGT TTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAAT ATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAA ATATAAAAATATTTATACGTTTATCTATAAATATATAAATATTTATACGT TTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAAAT ATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATAA ATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATATAT ATATATTTATCTATAAATATATATATATTTATATATTTATCTATAAATAT ATATATATTTATATATTTATCTATAAATATATATATATTTATATATTTAT ATATTTATCTATAAATATATATATATTTATATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(967): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATATTTTATATA TAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTA TATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTAT GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTAT AGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACT GTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATAT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	182	0.0055	974	c.505 others(993): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACAGTATATATACTA TACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTACATACTATATATAAAATATATATAGTACATACTAT ATATAAAATATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(967): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATATTTTATATA TAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTA TATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTAT GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTAT AGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACT GTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	182	0.0055	974	c.505 others(993): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACAGTATATATACTA TACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTACATACTATATATAAAATATATATAGTACATACTAT ATATAAAATATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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