Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(243): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGAGAGG GGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAG GGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGG AGAGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAG GGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAG A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	356	0.0028	250	c.667 others(265): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCC CCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTC TCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTC CCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(243): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAAGGGGGAGGGGAGGG GGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGAGGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAG A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	356	0.0028	250	c.667 others(265): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCT TCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCCTCTCCCC CCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCT CCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTC CCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406096	A A	AGGGGGAG others(243): Show AGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGG GAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAAGGGG GAGGGGAGGGGGGAGAGGGGGAGAGGGGGAAGGGGGAGAGGGGAGGGGGA GAGGGGGAGGGGGAGGGGAGAGGGGGAGGGGAGAGGGGAGAGAGAAGGGA GGGGGGGGAGGGGAGAGGAGAGAGAGGAGGGGGGAGGGGGGAGAGGGGGA G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	356	0.0028	250	c.667 others(265): Show c.667-853_667-852insCTCCCCCTCTCCCCCCTCCCCCCTCCTCTC TCTCCTCTCCCCTCCCCCCCCTCCCTTCTCTCTCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCCCCCTCTCCCCCTCCCCTCTCCCCCTTCCCCCTCT CCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCCTCTCCCCCCT CTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCC CCCTCTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(243): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	292	0.0034	250	c.298 others(269): Show c.298-21603_298-21354dupTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ARFGAP1_chr20_63267813_63294790	63294164	G G	GAGGGGGA others(243): Show GAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGAGGGGGGGGAGTGTGGG GGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGC GGGGGGGGGAGGGGGAGTGCGGGGGAAGGGGGCACGTGCGGGGGGGAGGG GGAGTGTGGGGGGGGAGGGGGAGTGCCGGGGGGAGGGGGAGTGCAGGGGA GCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	342	0.0029	250	c.62 others(261): Show c.6291_*6292insAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGAG GGGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCA GGGGGAGGGGAGTGCGGGGGGGGGAGGGGGAGTGCGGGGGAAGGGGGCAC GTGCGGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGGAGTGCCGGGGGGAG GGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGC GGGGCTGCCGAGGAGC	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4375		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(243): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTG TGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGT GGGGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	342	0.0029	250	c.62 others(261): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGG GGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294194	A A	AGGGGGAG others(243): Show AGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGAGGGGAGTGCGGGGGGAGG GGGAGTGCAGGGGGAGGGGAGTGCGGGGGAGGGGGAGTGCGGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGG AGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGA GCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGTGGGGCGTGCAGGGGGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	342	0.0029	250	c.63 others(261): Show c.6321_*6322insGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGAGGG GAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGAGGGGG AGTGCGGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGA GGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGG GGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGTG GGGCGTGCAGGGGGAG	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4405		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(243): Show CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACC AGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACC ACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTG AGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	246	0.0041	250	c.-21 others(261): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCT GTAAATGAGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285937	C C	CCCCAACA others(243): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG03130.hp2 HG02257.hp1 HG02809.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0025 a0001c0001t0021g0024 a0001c0001t0001g0025 a0001c0001t0021g0024	3	442	0.0068	250	c.31 others(261): Show c.3123_*3124insCCCAACACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2928		chr16	TogoVar
ASAP1_chr8_130047104_130448674	130049566	A A	AGGAGAAC others(243): Show AGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACAT GGGGGCAGAGGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	308	0.0033	250	c.51 others(261): Show c.5164_*5165insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTATTCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC CCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTG CCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2537		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(243): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCCACC TCCCCCCACCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0012g0191 a0001c0002t0012g0252	2	254	0.0079	250	c.39+ others(267): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCACCCCCTACCCCCC ACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	ATATATAG others(243): Show ATATATAGTTTATATATATATACTATATATATAGTTTATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATACT ATATATATAGTTTATATATATACTATATATATAGTTTATATATATATACT ATATATATAGTTTATATATATACTATATATATAGTTTATATATATATACT ATATATATAGTTTATATATATATACTATATATATAGTTTATATATATATA C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0019 a0001c0001t0004g0020	2	304	0.0066	250	c.331 others(269): Show c.3314-1177_3314-1176insGTATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAAACTATATATA TAGTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP6V1B1_chr2_70930900_70970431	70937072	A A	AAGCCAGA others(243): Show AAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA GAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA GAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA GAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA GAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	440	0.0023	250	c.118 others(267): Show c.118+1112_118+1113insACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCAC AGCTATGCAGAGCCAGAGGCTC	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP8A2_chr13_25366974_26030851	25731172	G G	GGAAAGAA others(243): Show GGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAAAGAGAAAGAA GAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGCGG GAGGAAGAAAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAGACCGGAAG GAGAGAGAAAGAGAGAAAGAGAAAGAAGAAAGAAGGAAAGAGAGAGAGAG GAAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAAAGAGAGAG A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	122	0.0082	250	c.238 others(271): Show c.2384+31919_2384+31920insGAAGCGGGAGGAAGAAAAAGAAAG AAAGAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAA AGAGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGG AAGCGGGAGGAAGAAAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAGAC CGGAAGGAGAGAGAAAGAGAGAAAGAGAAAGAAGAAAGAAGGAAAGAGAG AGAGAGGAAGGAAGGAAGGAAGGAAG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACA others(243): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG03516.hp1 HG02559.hp2 HG02615.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0022 a0001c0003t0012 a0001c0003t0022	a0001c0003t0012g0215 a0001c0003t0012g0219 a0001c0003t0022g0216 a0001c0003t0012g0215 a0001c0003t0012g0219 a0001c0003t0022g0216	3	378	0.0079	250	c.21 others(261): Show c.2184_*2185insAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGCG GGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAA CCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCG CGGGGTTGGTGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	82984021	G G	GAGGGGAG others(243): Show GAGGGGAGAGGCCACGTGAGCACACAGAAGAGAGGCCATATGATCACGCA GGGGAGAGGCCACGTGAGCACACGGGGGAGAGATGATGTGAGCACACGGG GGAGAGGCCACGTGAGGACGTGGGGGAGGGGAGAGGCCACGTGAGCACAC AGAAGAGAGGCCATATGATCACGCAGGGGAGAGGCCACATGAGGACGTGG GGGAGGGGAGAGGCCACGTGAGCACACAGGAGAGAGGCCATATGATCACG C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	266	0.0038	250	c.460 others(269): Show c.460-18276_460-18275insGCGTGATCATATGGCCTCTCTCCTGT GTGCTCACGTGGCCTCTCCCCTCCCCCACGTCCTCATGTGGCCTCTCCCC TGCGTGATCATATGGCCTCTCTTCTGTGTGCTCACGTGGCCTCTCCCCTC CCCCACGTCCTCACGTGGCCTCTCCCCCGTGTGCTCACATCATCTCTCCC CCGTGTGCTCACGTGGCCTCTCCCCTGCGTGATCATATGGCCTCTCTTCT GTGTGCTCACGTGGCCTCTCCCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(243): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGAGG GGAGGGGGAGGGGAAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGGAGG GGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGA TGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGG A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp1 HG02148.hp1 HG01943.hp1 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140	3	298	0.0101	250	c.51+ others(263): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CCTCTTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTC CCCCATCCCCCTCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCC CCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(243): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAAGGGGAGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGG GGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGA TGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGG A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	298	0.0034	250	c.51+ others(263): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCCCCCTCCTCCCCAGTCCATCTCCCTCCCC CTCTCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTC CCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCC CCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCC CCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(243): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGAGGGA GAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGG GAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGGAGGGGGAG GGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGGGAGA TGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGGGG A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18941.hp1 NA18943.hp1 HG02165.hp1 NA18941.hp1 NA18943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262	3	298	0.0101	250	c.51+ others(263): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BANP_chr16_87946434_88082316	88000377	C C	CGTCTCCA others(243): Show CGTCTCCATACACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACG TGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACA CCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTCACCTGTCCT TCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGGACTCACCTGTCCT TCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCT T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0162 a0001c0031t0001g0162	1	352	0.0028	250	c.363 others(267): Show c.363-3918_363-3917insGTCTCCATACACGCACGTGCGCGGCTGT ACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGT ACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGC GCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGC GCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGC GCGGCTGTACTTACCTGTCCTT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13			chr16	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(243): Show CGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGG A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18747.hp1 NA18940.hp2 others(5): Show HG00544.hp1 NA18747.hp1 NA18940.hp2 NA18956.hp1 NA18982.hp1 NA18992.hp2 NA18995.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0004 a0002c0002t0001g0143 a0002c0002t0001g0169 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0143 a0002c0002t0001g0169 a0002c0002t0001g0175 a0002c0002t0001g0188 a0002c0004t0001g0206	8	410	0.0195	250	c.465 others(265): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCC TCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404610	A A	AACGGGGT others(243): Show AACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACAGG GTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTG AGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGC CTTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	322	0.0031	250	c.24 others(261): Show c.2485_*2486insCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCC CCCTCACACCCCTCAAGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCA GGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCCCAC ACCCCTCAGGGCAGGACCCTGTCCCCCCCTCACACCCCTCAGGGCAGGAC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCT CAGGGCAGGACCCCGT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		834		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGGT others(243): Show GTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGG TGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGA TGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATG GTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTG A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(87): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03209.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18989.hp2 NA18998.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0014 a0021 a0022 a0026 a0028 a0030 a0040 a0041 a0053 a0054 a0060 a0075 a0099 a0100 a0101	a0001c0001 a0001c0084 a0002c0002 others(21): Show a0001c0001 a0001c0084 a0002c0002 a0004c0003 a0005c0005 a0006c0007 a0007c0008 a0008c0006 a0010c0010 a0014c0014 a0021c0050 a0022c0022 a0026c0025 a0028c0029 a0030c0032 a0040c0031 a0041c0030 a0053c0057 a0054c0058 a0060c0114 a0075c0079 a0099c0085 a0100c0112 a0101c0111	a0001c0001t0000 a0001c0084t0000 a0002c0002t0000 others(21): Show a0001c0001t0000 a0001c0084t0000 a0002c0002t0000 a0004c0003t0000 a0005c0005t0000 a0006c0007t0000 a0007c0008t0000 a0008c0006t0000 a0010c0010t0000 a0014c0014t0000 a0021c0050t0000 a0022c0022t0000 a0026c0025t0000 a0028c0029t0000 a0030c0032t0000 a0040c0031t0000 a0041c0030t0000 a0053c0057t0000 a0054c0058t0000 a0060c0114t0000 a0075c0079t0000 a0099c0085t0000 a0100c0112t0000 a0101c0111t0000	a0001c0001t0000g0055 a0001c0001t0000g0073 a0001c0001t0000g0074 others(86): Show a0001c0001t0000g0055 a0001c0001t0000g0073 a0001c0001t0000g0074 a0001c0001t0000g0078 a0001c0001t0000g0083 a0001c0001t0000g0086 a0001c0001t0000g0096 a0001c0001t0000g0097 a0001c0001t0000g0099 a0001c0001t0000g0100 a0001c0001t0000g0101 a0001c0001t0000g0102 a0001c0001t0000g0104 a0001c0001t0000g0105 a0001c0001t0000g0106 a0001c0001t0000g0108 a0001c0001t0000g0111 a0001c0001t0000g0114 a0001c0001t0000g0115 a0001c0001t0000g0117 a0001c0001t0000g0118 a0001c0001t0000g0119 a0001c0001t0000g0120 a0001c0001t0000g0121 a0001c0001t0000g0126 a0001c0001t0000g0127 a0001c0001t0000g0129 a0001c0001t0000g0130 a0001c0001t0000g0131 a0001c0001t0000g0132 a0001c0001t0000g0133 a0001c0001t0000g0135 a0001c0001t0000g0141 a0001c0001t0000g0147 a0001c0001t0000g0148 a0001c0001t0000g0153 a0001c0001t0000g0155 a0001c0001t0000g0156 a0001c0001t0000g0170 a0001c0001t0000g0176 a0001c0001t0000g0177 a0001c0001t0000g0203 a0001c0001t0000g0235 a0001c0001t0000g0240 a0001c0001t0000g0242 a0001c0001t0000g0282 a0001c0084t0000g0095 a0002c0002t0000g0103 a0002c0002t0000g0110 a0004c0003t0000g0082 a0004c0003t0000g0094 a0004c0003t0000g0112 a0004c0003t0000g0113 a0004c0003t0000g0124 a0004c0003t0000g0128 a0004c0003t0000g0238 a0005c0005t0000g0084 a0005c0005t0000g0085 a0005c0005t0000g0092 a0005c0005t0000g0098 a0005c0005t0000g0107 a0005c0005t0000g0136 a0006c0007t0000g0171 a0007c0008t0000g0123 a0008c0006t0000g0109 a0008c0006t0000g0116 a0008c0006t0000g0122 a0008c0006t0000g0134 a0008c0006t0000g0174 a0008c0006t0000g0239 a0010c0010t0000g0281 a0010c0010t0000g0290 a0014c0014t0000g0145 a0014c0014t0000g0241 a0021c0050t0000g0061 a0022c0022t0000g0038 a0026c0025t0000g0063 a0028c0029t0000g0072 a0030c0032t0000g0024 a0030c0032t0000g0025 a0040c0031t0000g0232 a0041c0030t0000g0004 a0053c0057t0000g0039 a0054c0058t0000g0057 a0060c0114t0000g0149 a0075c0079t0000g0027 a0099c0085t0000g0125 a0100c0112t0000g0014 a0101c0111t0000g0093	90	346	0.2601	250	c.963 others(267): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCATC ACCATCATCAGCATCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGGT others(243): Show GTGATGGTGATGCTGATGATGTTGATGATGGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGG TGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGA TGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATG GTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTG A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0205 a0001c0001t0000g0205	1	346	0.0029	250	c.963 others(267): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCATC AACATCATCAGCATCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA2D3_chr3_54117552_55079557	54736013	A A	ATACATAT others(243): Show ATACATATATATATACGTATATATATACGTATATATATGTATATATATAT ACGTATATATGTATATATATACATATATATACGTATATATATATACATAT ATATATACATATATACGTGTATATATACGTATATATACGTATATATATAC GTATATATACGTATATATATACGTATATATACGTATATATATACGTATAT ATACGTATATATACACGTATATATACGTATATATATATACATATATATAC G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	118	0.0085	250	c.116 others(271): Show c.1168-16584_1168-16583insCATATATATATACGTATATATATA CGTATATATATGTATATATATATACGTATATATGTATATATATACATATA TATACGTATATATATATACATATATATATACATATATACGTGTATATATA CGTATATATACGTATATATATACGTATATATACGTATATATATACGTATA TATACGTATATATATACGTATATATACGTATATATACACGTATATATACG TATATATATATACATATATATACGTA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(243): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCCTGAGGAGGG AAGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAG GCTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGAT GGTGGAAGGATCTGAGGGGGGAAGGACATGAAGGAGAAGGATCTGAGGGG G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	250	0.0040	250	c.-21 others(267): Show c.-21+3090_-21+3091insCCCCCTCAGATCCTTCTCCTTCATGTCC TTCCCCCCTCAGATCCTTCCACCATCAGATCCTTACCCTTCTGATCCTCC TCAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGATCATTCCGCCCTC AGATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGGCGCTTTCCCCTCAGA TCCTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTCTGTCCACAGATC CTATCCCGCCTCAGAGCCTTCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181427	C C	CACCCAAC others(243): Show CACCCAACCACACCACACTCACACACACACACACACCCAACCACACCACA CTCACACACACACGCACACACACTCACAGACACAACCACACCACACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACATACACACTCACA T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01516.hp1 others(4): Show HG01069.hp1 HG01070.hp2 HG01516.hp1 HG01517.hp1 HG03239.hp1 HG04115.hp1 NA20805.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0041 a0004c0004t0001g0043 a0004c0004t0001g0130 others(4): Show a0004c0004t0001g0041 a0004c0004t0001g0043 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0144 a0004c0004t0001g0298 a0004c0004t0001g0396	7	460	0.0152	250	c.193 others(267): Show c.1938+109_1938+110insCCAACCACACCACACTCACACACACACA CACACCCAACCACACCACACTCACACACACACGCACACACACTCACAGAC ACAACCACACCACACACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181906	A A	ACACACAC others(243): Show ACACACACATACACACTCACATAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACATACACACTCACATACAGACACAACCACA C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0126 a0003c0003t0002g0126	1	460	0.0022	250	c.193 others(267): Show c.1938+587_1938+588insACACACATACACACTCACATAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC110_chr4_185440182_185476733	185471236	G G	GAATTAGG others(243): Show GAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGA TGGGGAGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGG GTCAAGGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCT GAAGGCTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCT GGGGCGGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGG C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02886.hp2 HG02895.hp2 HG00438.hp1 HG02886.hp2 HG02895.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0003 a0001c0001 a0001c0008 a0003c0003	a0001c0001t0001 a0001c0008t0003 a0003c0003t0001 a0001c0001t0001 a0001c0008t0003 a0003c0003t0001	a0001c0001t0001g0361 a0001c0008t0003g0360 a0003c0003t0001g0368 a0001c0001t0001g0361 a0001c0008t0003g0360 a0003c0003t0001g0368	3	428	0.0070	250	c.11- others(263): Show c.11-188_11-187insGCCTCCGCCCCGCCCTCCCGGCCCTCCCGGCC CTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAATTCCCT CCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGCCCCGC CCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAGGTCCC GCCCAGTCTCTCCTCCCCATCCCATCGCTGCGCCCCGCCCCAGCCTTCAG CCCCGCCCCCTCCTAATT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185471291	C C	CGGAGAGA others(243): Show CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGCAATT AGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGG A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01099.hp2 others(65): Show HG00735.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18973.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19080.hp1 NA19085.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0011 a0013 a0019	a0001c0001 a0001c0006 a0001c0009 others(7): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0002c0004 a0002c0005 a0003c0003 a0011c0026 a0013c0025 a0019c0027	a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0011c0026t0003 a0013c0025t0001 a0019c0027t0002	a0001c0001t0001g0032 a0001c0001t0001g0292 a0001c0001t0001g0293 others(60): Show a0001c0001t0001g0032 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0339 a0001c0001t0001g0351 a0001c0001t0002g0347 a0001c0006t0003g0299 a0001c0006t0003g0343 a0001c0006t0003g0348 a0001c0006t0003g0349 a0001c0009t0002g0352 a0002c0002t0001g0028 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0320 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0002g0314 a0002c0002t0002g0318 a0002c0002t0002g0325 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0004t0001g0319 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0335 a0002c0005t0001g0336 a0002c0005t0001g0337 a0002c0005t0001g0338 a0003c0003t0001g0294 a0003c0003t0001g0296 a0003c0003t0001g0313 a0003c0003t0002g0289 a0003c0003t0002g0307 a0003c0003t0002g0309 a0003c0003t0002g0310 a0003c0003t0002g0311 a0003c0003t0002g0344 a0003c0003t0003g0308 a0011c0026t0003g0350 a0013c0025t0001g0312 a0019c0027t0002g0298	68	428	0.1589	250	c.11- others(263): Show c.11-243_11-242insTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAGCCCCGCCCCCTCCTAATTGCCTCCGCCCCGCCCTCCCGGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185471291	C C	CGGAGAGA others(243): Show CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGGGGCGGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGGAATT AGGAGGGGGCGGGTTTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGG A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG01891.hp2 others(15): Show HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02451.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 NA18906.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0001c0001t0001g0026 a0001c0001t0001g0208 a0003c0003t0001g0219 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0208 a0003c0003t0001g0219 a0003c0003t0001g0221 a0003c0003t0001g0259 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0270 a0003c0003t0002g0209 a0003c0003t0002g0212 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0231 a0003c0003t0002g0235 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0003t0003g0242	18	428	0.0421	250	c.11- others(263): Show c.11-243_11-242insTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAAACCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCTCCCGGCCCTCC CGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAAT TCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCCGCCCCATCCCTCTGC CCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAG GTCCCGCCCAGTCTCTCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC127_chr5_191868_223153	194146	A A	ACTGTCCT others(243): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02258.hp1 others(11): Show HG01261.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0174 a0001c0003t0040 a0001c0003t0041 others(9): Show a0001c0001t0174 a0001c0003t0040 a0001c0003t0041 a0001c0003t0187 a0001c0003t0188 a0001c0003t0196 a0001c0003t0197 a0001c0003t0198 a0001c0003t0199 a0001c0003t0200 a0001c0003t0202 a0002c0004t0182	a0001c0001t0174g0115 a0001c0003t0040g0038 a0001c0003t0041g0041 others(9): Show a0001c0001t0174g0115 a0001c0003t0040g0038 a0001c0003t0041g0041 a0001c0003t0187g0241 a0001c0003t0188g0245 a0001c0003t0196g0251 a0001c0003t0197g0247 a0001c0003t0198g0242 a0001c0003t0199g0243 a0001c0003t0200g0246 a0001c0003t0202g0250 a0002c0004t0182g0237	14	406	0.0345	250	c.11 others(263): Show c.11150_*11151insAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCTGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAG	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		2721		chr5	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(243): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19084.hp1 NA18942.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0249 a0001c0001t0007g0232 a0001c0001t0005g0249 a0001c0001t0007g0232	2	316	0.0063	250	c.273 others(267): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCR9_chr3_45881543_45908174	45890339	T T	TATATATA others(243): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATAACATATATATATATTTATATAAATATATATATAACATATAT ATATTTATATAAATATATATATAACATATATATATTTATATAAATATATA TATAACATATATATATTTATATAAATATATATATAACATATATATATTTA TATAAATATATATATAACATATATATATATTTATATAAATATATATATAA C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	424	0.0024	250	c.-29 others(267): Show c.-29+3692_-29+3693insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATATTTATATAAATATAT ATATAACATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATATTTATATA AATATATATATAACATATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(243): Show TATATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	250	c.27 others(261): Show c.2768_*2769insATATACACAAGTGTGTATATACGCATACACACAT ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC34_chr19_526760_547087	544760	C C	CGCCCGTC others(243): Show CGCCCGTCCACCCATCATTCCTCCTTCCATTCTTCCTTCCATCCATCCAT CATCCATCCCTCTACCCATGGGTCCATCATCCATCCCTCCCTCCCTCCTT TCGTTCCCCCTTCCTTCCCTCCGCCAGTCCATCCACCCATCATTCCTCCT TCCATTCTTCCACCCATCCATCCATCATCCATCCCTCTACCCATGGGTCC ATCATCCATCCCTCCCTCCCTCCTTTCGTTCCCCCTTCCTTCCCTCCGCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	328	0.0031	250	c.32 others(261): Show c.3208_*3209insGCCCGTCCACCCATCATTCCTCCTTCCATTCTTC CTTCCATCCATCCATCATCCATCCCTCTACCCATGGGTCCATCATCCATC CCTCCCTCCCTCCTTTCGTTCCCCCTTCCTTCCCTCCGCCAGTCCATCCA CCCATCATTCCTCCTTCCATTCTTCCACCCATCCATCCATCATCCATCCC TCTACCCATGGGTCCATCATCCATCCCTCCCTCCCTCCTTTCGTTCCCCC TTCCTTCCCTCCGCCA	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		2674		chr19	TogoVar
CDC34_chr19_526760_547087	544765	G G	GTCCACCC others(243): Show GTCCACCCATCATTCCTCCTTCCATTCTTCCACCCACCCATCCATCATCC ATCCCTCTACCCATGGGTCCATCATCCATCCCTCCCTCCCTCCTTTCGTT CCCCCTTCCTTCCCTCCGCCAGTCCATCCACCCATCATTCCTCCTTCCAT TCTTCCACCCATCCATCCATCATCCATCCCTCTACCCATGGGTCCATCAT CCATCCCTCCCTCCCTCCTTTCGTTCCCCCTTCCTTCCCTCCGCCAGTCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02723.hp2 HG02738.hp2 others(5): Show HG00642.hp1 HG02723.hp2 HG02738.hp2 HG03098.hp1 HG03471.hp1 HG03654.hp2 HG04184.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0174	8	328	0.0244	250	c.32 others(261): Show c.3213_*3214insTCCACCCATCATTCCTCCTTCCATTCTTCCACCC ACCCATCCATCATCCATCCCTCTACCCATGGGTCCATCATCCATCCCTCC CTCCCTCCTTTCGTTCCCCCTTCCTTCCCTCCGCCAGTCCATCCACCCAT CATTCCTCCTTCCATTCTTCCACCCATCCATCCATCATCCATCCCTCTAC CCATGGGTCCATCATCCATCCCTCCCTCCCTCCTTTCGTTCCCCCTTCCT TCCCTCCGCCAGTCCA	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding		2679		chr19	TogoVar
CDH4_chr20_61247261_61945617	61784698	T T	TCCCAGTT others(243): Show TCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCCAGGCCCTCCGAT ATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCG AGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTC GGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAA G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0063 a0001c0001t0050g0063	1	106	0.0094	250	c.576 others(269): Show c.576+11526_576+11527insTGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC CAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTC GGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTA ATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61944246	A A	ATGCACCG others(243): Show ATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG01358.hp1 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0005 a0002c0008t0004 a0002c0002t0005 a0002c0008t0004	a0002c0002t0005g0014 a0002c0008t0004g0041 a0002c0002t0005g0014 a0002c0008t0004g0041	2	106	0.0189	250	c.73 others(261): Show c.7303_*7304insTGCACCGTGGCCGCCCCTTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAG GAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3630		chr20	TogoVar
CENPJ_chr13_24877279_24927861	24882028	A A	ATATATAG others(243): Show ATATATAGATACATCATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCATCTATATAGATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATATATAATCTATATAGATACATCTATATAGATATATAAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 NA20300.hp1 HG02055.hp2 HG02559.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0069 a0002c0003t0009g0070 a0002c0003t0009g0073 a0002c0003t0009g0069 a0002c0003t0009g0070 a0002c0003t0009g0073	3	440	0.0068	250	c.11 others(261): Show c.1148_*1149insGATTATATATCTATATAGATGTATCTATATAGAT TATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATCTATATAGATGATGTATCTATATATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAG ATGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		250		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132821128	T T	TGCTGATG others(243): Show TGCTGATGTGTGCTGTCTGTGCGCTGATGTGTGCTGTGTGTGCTGTGTGA GTGCTGATGTGTGCTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTG TGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGT GTGCTGTGTGTTGTGTGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGTG TGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAG C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02809.hp2 others(1): Show HG02258.hp1 HG02572.hp2 HG02809.hp2 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0072 a0010c0011 a0010c0072	a0010c0011t0001 a0010c0072t0002 a0010c0011t0001 a0010c0072t0002	a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 others(1): Show a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004	4	246	0.0163	250	c.711 others(269): Show c.7118-6215_7118-6214insGCTCACACAGCACACAGCACACACAC AGCACACATCAGTGCACACACAGCACACAGCACACACAGCACACATCAGC ACACAGCACACACAACACACAGCACACACAGCACACATCAGCACTCACAC AGCACACATCAGCGCTCACACAGCACACACACAGCACACATCAGCACACA CACAGCACACAGCACACATCAGCACTCACACAGCACACACAGCACACATC AGCGCACAGACAGCACACATCAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821133	A A	ATGTGTGC others(243): Show ATGTGTGCTGTCTGTGCGCTGATGTGTGCTGTGTGTGCTGTGTGAGTGCT GATGTGTGCTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTG TGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCT GTGTGTTGTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGATGTG TGCTGTGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTG C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02559.hp1 HG01884.hp1 HG02145.hp2 HG02559.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219	3	246	0.0122	250	c.711 others(269): Show c.7118-6220_7118-6219insGCACACACACAGCACACATCAGTGCA CACACAGCACACAGCACACACAGCACACATCAGCACACAGCACACATCAG CACTCACACAGCACACACAACACACAGCACACACAGCACACATCAGCACT CACACAGCACACATCAGCGCTCACACAGCACACACACAGCACACATCAGC ACACACACAGCACACAGCACACATCAGCACTCACACAGCACACACAGCAC ACATCAGCGCACAGACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35924298	C C	CATATGTA others(243): Show CATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATATGTACG CCTATGTGTATAGGCGTACATATATGTGTACATATGTACGCCTATGTGTA TAGGCGTACATATATGTGTACATGTGTACGCCTATGTGTATAGGTGCACA TATATGTGTACAGGTGTACATATATGTGTACACATGTGCACATATGTGTA TAGGTGTACATATATGTGTACATATGTGCACATATGTGTATAGGTGTACA T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0197 a0010c0007t0001g0198 a0010c0007t0001g0197 a0010c0007t0001g0198	2	216	0.0093	250	c.250 others(267): Show c.250-1718_250-1717insTATGTACGCCTATGTGTATAGGCGTACA TATATGTGTACATATGTACGCCTATGTGTATAGGCGTACATATATGTGTA CATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATGTGTACG CCTATGTGTATAGGTGCACATATATGTGTACAGGTGTACATATATGTGTA CACATGTGCACATATGTGTATAGGTGTACATATATGTGTACATATGTGCA CATATGTGTATAGGTGTACATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924298	C C	CATATGTA others(243): Show CATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATATGTACG CCTATGTGTATAGGCGTACATATATGTGTACATATGTACGCCTATGTGTA TAGGCGTACATATATGTGTACATGTGTACGCCTATGTGTATAGGTGCACA TATATGTGTACAGGTGTACATATATGTGTACACATGTGCACATATGTGTA TAGGTGTACATATATGTGTACATATGTGCACATATGTGTATAGGTGTAGA T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0199 a0005c0015t0001g0199	1	216	0.0046	250	c.250 others(267): Show c.250-1718_250-1717insTATGTACGCCTATGTGTATAGGCGTACA TATATGTGTACATATGTACGCCTATGTGTATAGGCGTACATATATGTGTA CATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATGTGTACG CCTATGTGTATAGGTGCACATATATGTGTACAGGTGTACATATATGTGTA CACATGTGCACATATGTGTATAGGTGTACATATATGTGTACATATGTGCA CATATGTGTATAGGTGTAGATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLPTM1L_chr5_1312752_1350099	1333251	C C	CGGATGAG others(243): Show CGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGG GACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACAC ACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGAT AAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTATTG TATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01071.hp1 others(16): Show HG00323.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp1 HG02055.hp2 HG02559.hp2 HG02630.hp1 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG04199.hp1 NA18994.hp1 NA19056.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0125 others(16): Show a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0125 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0302	19	370	0.0514	250	c.891 others(267): Show c.891+1037_891+1038insTCATCTGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAA TGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATACAGTA GTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCT CATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAG TAGTCTCCCCTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLTCL1_chr22_19174473_19296719	19202438	C C	CCGCCATC others(243): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACC CCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCAT CCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCC CCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCT T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0006 a0010c0016t0006	a0010c0016t0006g0311 a0010c0016t0006g0311	1	346	0.0029	250	c.360 others(267): Show c.3601-946_3601-945insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGC GAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGT GGGGGAGGTGCCGTGGATGGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(243): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	292	0.0034	250	c.739 others(265): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(243): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTTGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0155 a0001c0041t0001g0155	1	292	0.0034	250	c.739 others(265): Show c.739-706_739-705insTGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG TGGACGTGGACCCACAGCCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474780	G G	GGGCGTGG others(243): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(116): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0026 a0027 a0028 a0030 a0031 a0032 a0036 a0037	a0001c0001 a0001c0002 a0001c0003 others(42): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0025 a0001c0035 a0001c0053 a0001c0063 a0001c0082 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0002c0020 a0002c0021 a0003c0046 a0004c0023 a0004c0091 a0004c0099 a0004c0100 a0005c0036 a0005c0060 a0006c0026 a0010c0014 a0011c0040 a0011c0104 a0012c0088 a0013c0051 a0013c0102 a0014c0039 a0016c0042 a0018c0095 a0019c0096 a0020c0094 a0026c0044 a0027c0070 a0028c0097 a0030c0056 a0031c0092 a0032c0052 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 others(51): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0007t0002 a0001c0011t0001 a0001c0025t0002 a0001c0035t0001 a0001c0053t0001 a0001c0063t0001 a0001c0082t0008 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0002c0020t0001 a0002c0020t0003 a0002c0021t0002 a0003c0046t0001 a0004c0023t0002 a0004c0091t0001 a0004c0099t0003 a0004c0100t0001 a0005c0036t0001 a0005c0060t0001 a0006c0026t0001 a0006c0026t0003 a0010c0014t0001 a0011c0040t0001 a0011c0104t0002 a0012c0088t0002 a0013c0051t0001 a0013c0102t0004 a0014c0039t0009 a0016c0042t0001 a0018c0095t0001 a0019c0096t0015 a0020c0094t0011 a0026c0044t0001 a0027c0070t0001 a0028c0097t0001 a0030c0056t0001 a0031c0092t0011 a0032c0052t0002 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(116): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0191 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0002t0012g0109 a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0182 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0255 a0001c0004t0001g0267 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0007t0002g0208 a0001c0007t0002g0220 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0053t0001g0244 a0001c0063t0001g0144 a0001c0082t0008g0053 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0020t0003g0156 a0002c0021t0002g0001 a0002c0021t0002g0148 a0002c0021t0002g0186 a0003c0046t0001g0002 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0091t0001g0056 a0004c0099t0003g0030 a0004c0100t0001g0039 a0005c0036t0001g0245 a0005c0060t0001g0063 a0006c0026t0001g0083 a0006c0026t0003g0219 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0012c0088t0002g0006 a0013c0051t0001g0195 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0016c0042t0001g0118 a0018c0095t0001g0146 a0019c0096t0015g0045 a0020c0094t0011g0075 a0026c0044t0001g0037 a0027c0070t0001g0012 a0028c0097t0001g0036 a0030c0056t0001g0044 a0031c0092t0011g0190 a0032c0052t0002g0077 a0036c0048t0004g0184 a0037c0049t0004g0183	119	292	0.4075	250	c.739 others(265): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGCGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474780	G G	GGGCGTGG others(243): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTTGCTCCTGG C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	292	0.0034	250	c.739 others(265): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTTGCTCC TGGCGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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