Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

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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
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(233): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATATACGCGTATATATATGTATATACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTATATACATATATATACGCGTATATA TATGTATATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG03453.hp1 others(1): Show HG02809.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0014 a0001c0001t0003g0044 a0001c0001t0003g0046 others(1): Show a0001c0001t0003g0014 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0033g0045	4	164	0.0244	240	c.125 others(259): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATATGTATAT ACATATATATACGCGTATATATGTATATACATATATATACGCGTATATAT ATGTATATACATATATATACGCGTATATATGTATATACATATATATACGC GTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(233): Show TATATACATATATATACGCGTATATATATGTATATACATATATACGCGTA TATATATGTATATACATATATACGCGTATATATATGTATATACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTATATACATATATATACGCGTATATA TATGTATATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	164	0.0061	240	c.125 others(259): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATATGTATAT ACATATATATACGCGTATATATGTATATACATATATATACGCGTATATAT GTATATACATATATATACGCGTATATATGTATATACATATATATACGCGT ATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12694197	T T	TTATGCAT others(233): Show TTATGCATAATATATATTATATATTATATAATATATATTATGCATAATAT ATATTATATATTATATAATATATATTATGCATAATATATATTATATATTA TATAATATATATTATGCATAATATATATTATATATTATATATTATATAAA ATATATATTATGCATAATATATATTATATATTATATAATATATAATATAT ATTATATATAATATAAAATATATATTATGTATAATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0042 a0001c0001t0032g0042	1	214	0.0047	240	c.299 others(259): Show c.299+27390_299+27391insGCATAATATATATTATATATTATATA ATATATATTATGCATAATATATATTATATATTATATAATATATATTATGC ATAATATATATTATATATTATATAATATATATTATGCATAATATATATTA TATATTATATATTATATAAAATATATATTATGCATAATATATATTATATA TTATATAATATATAATATATATTATATATAATATAAAATATATATTATGT ATAATATATAATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(233): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGGAAGGGGAGGG GAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0116 a0001c0001t0023g0116	1	340	0.0029	240	c.104 others(259): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCGTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(233): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGG GAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0336 a0001c0009t0002g0336	1	340	0.0029	240	c.104 others(259): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44181457	A A	ACACACAC others(233): Show ACACACACACACACTCACAGACAACCACACCACACACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0092 a0008c0008t0002g0373 a0008c0008t0002g0092 a0008c0008t0002g0373	2	460	0.0044	240	c.193 others(257): Show c.1938+148_1938+149insACTCACAGACAACCACACCACACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACTCACATACAGACACAACCACACCACAC TCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181459	A A	ACACACAC others(233): Show ACACACACACACTCACAGACACAACCACACCACACACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0314 a0007c0007t0001g0314	1	460	0.0022	240	c.193 others(257): Show c.1938+148_1938+149insACTCACAGACACAACCACACCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGCC others(233): Show ACGTCGCCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	410	0.0024	240	c.-22 others(257): Show c.-22-2081_-22-2080insGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(233): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0179 a0001c0005t0002g0179	1	410	0.0024	240	c.-22 others(257): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(233): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAGGAAGGGG AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAG GGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0262 a0002c0003t0003g0262	1	364	0.0028	240	c.234 others(257): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTT CCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCTCTTCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(233): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAA GAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	364	0.0028	240	c.234 others(257): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(233): Show CGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGG GCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGGGC ACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCAC CACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCA CGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	236	0.0042	240	c.-77 others(259): Show c.-77+16356_-77+16357insCAGGACGTGCCTGCTCGTGGTGCCCA GGACGTGCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGG ACGTGCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGAC GTGCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGC CTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(233): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02132.hp1 HG03516.hp2 others(4): Show HG01255.hp1 HG02132.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0014 a0002c0030	a0001c0001t0018 a0001c0001t0058 a0001c0002t0001 others(4): Show a0001c0001t0018 a0001c0001t0058 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0002c0014t0035 a0002c0030t0015	a0001c0001t0018g0015 a0001c0001t0058g0197 a0001c0002t0001g0219 others(4): Show a0001c0001t0018g0015 a0001c0001t0058g0197 a0001c0002t0001g0219 a0001c0002t0003g0025 a0001c0003t0002g0115 a0002c0014t0035g0112 a0002c0030t0015g0167	7	236	0.0297	240	c.-77 others(259): Show c.-77+16117_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744434	T T	TGTCCTGG others(233): Show TGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATG TCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTC CTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCT GGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGG GCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0051 a0001c0012t0001g0051	1	236	0.0042	240	c.-77 others(259): Show c.-77+16266_-77+16267insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGC CTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGC TCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTC GTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744530	T T	TGTCCTGG others(233): Show TGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCACG TCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTC CTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCT GGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGG GCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0086 a0001c0004t0023g0086	1	236	0.0042	240	c.-77 others(259): Show c.-77+16170_-77+16171insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGCCTGC TCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACATGCCTGCTC GTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(233): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATATAACATATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	424	0.0024	240	c.-29 others(257): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(233): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACAAGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	240	c.27 others(251): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACAAGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(233): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	240	c.27 others(251): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH23_chr10_71391920_71820947	71689068	G G	GTGGTGGA others(233): Show GTGGTGGAGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGT GGAGCCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGC CAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGG ATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGT GGAGTCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0088 a0088	a0088c0057 a0088c0057	a0088c0057t0027 a0088c0057t0027	a0088c0057t0027g0176 a0088c0057t0027g0176	1	196	0.0051	240	c.205 others(259): Show c.2059+1357_2059+1358insTCAGGGGTGGTGGAGTCAGGGATGGT GGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGATGGTGGAGT CAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGG ATGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGTGGAGC CAGGGATGGTGGAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71689068	G G	GTGGTGGA others(233): Show GTGGTGGAGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGT GGAGCCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGC CAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGG GTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGT GGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0021 a0021	a0021c0158 a0021c0158	a0021c0158t0001 a0021c0158t0001	a0021c0158t0001g0171 a0021c0158t0001g0171	1	196	0.0051	240	c.205 others(259): Show c.2059+1357_2059+1358insTCAGGGGTGGTGGAGTCAGGGATGGT GGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGATGGTGGAGT CAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGG ATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGT GGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGC CAGGGATGGTGGAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71689137	C C	CCAGGGAT others(233): Show CCAGGGATGGTGGAGTCAGGGGTGGTGGAACCAGGGGTGGTGGAGCCAAC GGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGG GGTGGTGGAGCCAGAGATGGTGGAGCCAGGGGTGGTGGAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp1 HG02723.hp2 others(4): Show HG00642.hp1 HG02280.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp2 HG03130.hp2 NA20129.hp1	a0001 a0003 a0043 others(4): Show a0001 a0003 a0043 a0059 a0070 a0075 a0103	a0001c0102 a0003c0090 a0043c0141 others(4): Show a0001c0102 a0003c0090 a0043c0141 a0059c0157 a0070c0056 a0075c0040 a0103c0023	a0001c0102t0001 a0003c0090t0001 a0043c0141t0008 others(4): Show a0001c0102t0001 a0003c0090t0001 a0043c0141t0008 a0059c0157t0029 a0070c0056t0001 a0075c0040t0001 a0103c0023t0007	a0001c0102t0001g0192 a0003c0090t0001g0194 a0043c0141t0008g0017 others(4): Show a0001c0102t0001g0192 a0003c0090t0001g0194 a0043c0141t0008g0017 a0059c0157t0029g0182 a0070c0056t0001g0179 a0075c0040t0001g0135 a0103c0023t0007g0174	7	196	0.0357	240	c.206 others(259): Show c.2060-1326_2060-1325insATGGTGGAGTCAGGGGTGGTGGAACC AGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGG TGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTG GAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTC AGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGAGATGGTGGAGCCAGGGG TGGTGGAGTCAGGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(233): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	334	0.0030	240	c.-25 others(251): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065178	A A	ATAGTATT others(233): Show ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	334	0.0030	240	c.-26 others(251): Show c.-2662_-2661insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2313		chr11	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(233): Show AGAATATATATATATAGAATATATATATAGAATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATAGAATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	388	0.0026	240	c.487 others(257): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(233): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	388	0.0026	240	c.487 others(257): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(233): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0196 a0001c0002t0004g0196	1	258	0.0039	240	c.403 others(255): Show c.403-623_403-622insCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(233): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0185 a0001c0002t0004g0185	1	258	0.0039	240	c.403 others(255): Show c.403-623_403-622insCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720839	T T	TCCCCCTT others(233): Show TCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCT CCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTT CCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCCCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	354	0.0028	240	c.69 others(251): Show c.6934_*6935insCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCT CCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTT CCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCC CCCTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4838		chr9	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(233): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCAGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0011 a0011	a0011c0049 a0011c0049	a0011c0049t0001 a0011c0049t0001	a0011c0049t0001g0184 a0011c0049t0001g0184	1	216	0.0046	240	c.141 others(257): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(233): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01069.hp1 others(29): Show HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01192.hp1 HG01346.hp1 HG01891.hp1 HG02074.hp1 HG02129.hp1 HG02257.hp1 HG02486.hp1 HG02698.hp1 HG02922.hp2 HG03942.hp1 NA18940.hp1 NA18954.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18992.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA20905.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0019 a0036 a0043	a0001c0001 a0001c0019 a0001c0071 others(5): Show a0001c0001 a0001c0019 a0001c0071 a0003c0004 a0007c0006 a0019c0023 a0036c0040 a0043c0043	a0001c0001t0001 a0001c0019t0001 a0001c0071t0001 others(5): Show a0001c0001t0001 a0001c0019t0001 a0001c0071t0001 a0003c0004t0001 a0007c0006t0001 a0019c0023t0001 a0036c0040t0001 a0043c0043t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0054 others(29): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0019t0001g0086 a0001c0019t0001g0124 a0001c0071t0001g0149 a0003c0004t0001g0176 a0007c0006t0001g0203 a0007c0006t0001g0206 a0019c0023t0001g0146 a0036c0040t0001g0021 a0043c0043t0001g0068	32	216	0.1482	240	c.141 others(257): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966284	T T	TGCTAATA others(233): Show TGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG CTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCT AATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAA TATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATA TTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18965.hp1 NA18968.hp2 HG01943.hp1 NA18965.hp1 NA18968.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0042 a0004c0003t0001g0117 a0004c0003t0001g0118 a0004c0003t0001g0042 a0004c0003t0001g0117 a0004c0003t0001g0118	3	216	0.0139	240	c.141 others(257): Show c.1411-217_1411-216insTATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCAGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20356647	C C	CTGAGAGG others(233): Show CTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCATACTG TGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGA GGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(18): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG03834.hp1 HG04199.hp1 NA18943.hp2 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0026	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0002c0002 a0002c0004 a0002c0034 a0003c0005 a0006c0011 a0008c0017 a0026c0030	a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 others(10): Show a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 a0001c0015t0002 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002 a0002c0004t0006 a0002c0034t0002 a0003c0005t0002 a0006c0011t0002 a0008c0017t0002 a0026c0030t0002	a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 others(18): Show a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 a0001c0001t0002g0225 a0001c0003t0002g0112 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0015t0002g0201 a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0097 a0002c0002t0006g0013 a0002c0004t0002g0209 a0002c0004t0006g0020 a0002c0034t0002g0034 a0003c0005t0002g0069 a0003c0005t0002g0218 a0006c0011t0002g0117 a0008c0017t0002g0121 a0026c0030t0002g0056	21	236	0.0890	240	c.351 others(259): Show c.3514-3559_3514-3558insAGGAGGTGGTCACACTGAGGGGAAGT GGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGG GGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACA CTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGT GGTCATACTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357466	G G	GGTCACAG others(233): Show GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGTGG TCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAAGTA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03942.hp2 HG02148.hp2 HG03942.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0046 a0002c0004 a0003c0046	a0002c0004t0004 a0003c0046t0001 a0002c0004t0004 a0003c0046t0001	a0002c0004t0004g0017 a0003c0046t0001g0059 a0002c0004t0004g0017 a0003c0046t0001g0059	2	236	0.0085	240	c.351 others(259): Show c.3514-2740_3514-2739insCAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAG TGAGGAAGTAGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(233): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG02056.hp1 others(11): Show HG00323.hp2 HG01099.hp2 HG02056.hp1 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG03017.hp1 HG03017.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18945.hp2 NA18966.hp2 NA19010.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005 a0005c0013	a0001c0001t0002 a0001c0006t0006 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0006t0006 a0002c0002t0002 a0003c0005t0002 a0005c0013t0002	a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0161 others(11): Show a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0161 a0001c0001t0002g0216 a0001c0001t0002g0235 a0001c0006t0006g0011 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0103 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0191 a0003c0005t0002g0070 a0005c0013t0002g0047	14	236	0.0593	240	c.351 others(259): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGG TCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHFR_chr12_132827356_132892605	132892412	G G	GGACAACA others(233): Show GGACAACATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0352 a0001c0001t0072g0352	1	378	0.0027	240	c.-48 others(251): Show c.-4879_-4878insTCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGA CAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAT GTTGTC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding		4808		chr12	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(233): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATA AATATTTATTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19056.hp2 NA19057.hp1 HG02015.hp1 NA19056.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	402	0.0075	240	c.80- others(255): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATA TTTATTTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAAT ATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(233): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAAC ACTCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 NA18522.hp2 HG02723.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0023 a0001c0013t0009 a0001c0013t0023	a0001c0013t0009g0302 a0001c0013t0023g0029 a0001c0013t0023g0030 a0001c0013t0009g0302 a0001c0013t0023g0029 a0001c0013t0023g0030	3	422	0.0071	240	c.817 others(257): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGATGGAGGGTG CTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAGGGGG ATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTG CTCCATGGAGGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(233): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAAC ACTCTCCATGGAGCACCCTCCGTCCCCCTTCCCTGTGAACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0301 a0001c0013t0009g0301	1	422	0.0024	240	c.817 others(257): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGACGGAGGGTG CTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAGGGGG ATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTG CTCCATGGAGGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CHSY1_chr15_101170727_101257048	101185414	C C	CCTCCATG others(233): Show CCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATGGA GCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCA TCCTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTTCC CTGTGAACACCCTCCATGGAGCACCCTCCATCCCCGTTCCCTGTGAACGC CCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0324 a0001c0001t0058g0324	1	422	0.0024	240	c.817 others(257): Show c.817-6435_817-6434insAGTGTTCACAGGGAAGGAGGATGGAGGG TGCTCCATGGAGGGCGTTCACAGGGAACGGGGATGGAGGGTGCTCCATGG AGGGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGAGTGTTCA CAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAGGG GGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGG TGCTCCATGGAG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CHSY1_chr15_101170727_101257048	101185516	C C	CTCCTTCC others(233): Show CTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTTCCCT GTGAACGCCCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAACGCCC TCCATGGAGCACCCTCCATCTCCCTTCCCTGTGAACGCCCTCCATGGAGC ACCCTCCATCCTCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCATC CCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTCCATCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0381 a0003c0006t0006g0381	1	422	0.0024	240	c.817 others(257): Show c.817-6537_817-6536insAGATGGAGGGTGCTCCATGGAGGGCGTT CACAGGGAAGGGGGATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAG GAGGATGGAGGGTGCTCCATGGAGGGCGTTCACAGGGAAGGGAGATGGAG GGTGCTCCATGGAGGGCGTTCACAGGGAAGGGGGATGGAGGGTGCTCCAT GGAGGGCGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGAGTGTT CACAGGGAAGGA	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CNR2_chr1_23865515_23918362	23899805	T T	TAAGAAAG others(233): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0197 a0001c0001t0033g0197	1	268	0.0037	240	c.-46 others(259): Show c.-46+13440_-46+13441insTCTTTCTTTCCTTTCTTTCTTTCTTT CCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTNAP5_chr2_124020287_124926219	124812034	A A	ATATATAA others(233): Show ATATATAATTTATATTTATATATTATATAATATATATTTATATTATATAT TATATAATATATAATTTATATTTATATATTATATAATATATAATTTATAT ATATATATTATATAATATATAATTTATATTATATATTATATAATATATTT TATATTTGTATATTATATAATATATAATATATATTATATATTATATATAT AATTTATATTATATATATAATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	64	0.0156	240	c.321 others(261): Show c.3217+13749_3217+13750insTTTATATTATATATTATATAATAT ATAATTTATATTTATATATTATATAATATATAATTTATATATATATATTA TATAATATATAATTTATATTATATATTATATAATATATTTTATATTTGTA TATTATATAATATATAATATATATTATATATTATATATATAATTTATATT ATATATATAATATATAATATATATTATATATTATATAATTTATATTTATA TATTATATAATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(233): Show GTATGTATACATATATGTATGTATACATATGTATACATATATGTATGTAT ACATATGTATACATATATGTATGTATACATATGTATACATATATGTATGT ATACATATGTATACATATATGTATGTATACATATGTATACATATATGTAT GTATACATATGTATACATATATGTATGTATACATATGTATACATATATGT ATGTATACATATGTATACATATACACGTGTGTATGTATACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	212	0.0047	240	c.41+ others(257): Show c.41+22883_41+22884insTGTATACATACACACGTGTATATGTATA CATATGTATACATACATATATGTATACATATGTATACATACATATATGTA TACATATGTATACATACATATATGTATACATATGTATACATACATATATG TATACATATGTATACATACATATATGTATACATATGTATACATACATATA TGTATACATATGTATACATACATATATGTATACATATGTATACATACATA TATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COL21A1_chr6_56051590_56252580	56098334	C C	CACATATG others(233): Show CACATATGTAAATATATAAATATATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATAAATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATATATGTAAATATATAAATATATATAAATATATATATAAATA TATATATATAAATATATATAAATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03139.hp2 HG04115.hp2 HG01358.hp1 HG03139.hp2 HG04115.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0055 a0005c0009t0004g0056 a0005c0009t0004g0072 a0005c0009t0004g0055 a0005c0009t0004g0056 a0005c0009t0004g0072	3	264	0.0114	240	c.181 others(259): Show c.1812+3137_1812+3138insATTTATATATATTTATATATTTATAT ATATTTATATATATATATTTATATATATATTTATATATATTTATATATTT ACATATATATTTATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATATTTATATATTTATATATTTATATATATTTATAT ATATATTTATATATTTATATATATTTATATATATTTATATATATATTTAT ATATTTACATATGT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178525670	A A	AGGACCCG others(233): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02965.hp1 others(1): Show HG02451.hp2 HG02572.hp2 HG02965.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0009 a0004c0006 a0001c0001 a0002c0009 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0002c0009t0006 others(1): Show a0001c0001t0003 a0001c0001t0005 a0002c0009t0006 a0004c0006t0003	a0001c0001t0003g0119 a0001c0001t0005g0144 a0002c0009t0006g0232 others(1): Show a0001c0001t0003g0119 a0001c0001t0005g0144 a0002c0009t0006g0232 a0004c0006t0003g0062	4	236	0.0170	240	c.361 others(259): Show c.361+35011_361+35012insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCTGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCTGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCTGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(233): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01978.hp1 HG02083.hp1 others(5): Show HG00280.hp1 HG01978.hp1 HG02083.hp1 HG02486.hp1 NA18960.hp1 NA18970.hp2 NA19074.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0055 a0001c0079 others(4): Show a0001c0003 a0001c0055 a0001c0079 a0002c0002 a0003c0012 a0003c0046 a0004c0005	a0001c0003t0001 a0001c0055t0001 a0001c0079t0001 others(4): Show a0001c0003t0001 a0001c0055t0001 a0001c0079t0001 a0002c0002t0002 a0003c0012t0002 a0003c0046t0002 a0004c0005t0001	a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0055t0001g0064 others(5): Show a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0055t0001g0064 a0001c0079t0001g0121 a0002c0002t0002g0329 a0003c0012t0002g0318 a0003c0046t0002g0292 a0004c0005t0001g0144	8	344	0.0233	240	c.85- others(257): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(233): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0236 a0002c0004t0001g0236	1	344	0.0029	240	c.85- others(257): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(233): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGCAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0001 a0005c0034t0001	a0005c0034t0001g0146 a0005c0034t0001g0146	1	344	0.0029	240	c.85- others(257): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTGCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(233): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AAGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0069	3	344	0.0087	240	c.85- others(257): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTGC CCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(233): Show TGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTG TGGATAGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTC GATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGA TGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATA GGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19081.hp1 NA18964.hp2 NA19081.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0002g0269 a0001c0015t0002g0284	2	372	0.0054	240	c.180 others(259): Show c.180+27866_180+27867insGCCGTGGTTACAGCGTGTGGATAGGC CGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCCG TGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTG GTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGT TACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTA CAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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