Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(303): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACAC ACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACAC ACACACGCGTA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	366	0.0027	310	c.645 others(327): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(303): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	410	0.0024	310	c.-22 others(327): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CATSPERD_chr19_5715637_5783734	5761463	G G	GGCTGGAT others(303): Show GGCTGGATGGTGTATTAGTCTGTTTTCACAGTTTTCAGAACTATCTGAGA TTGGGTAATTTATAAAGAAAAGAGGTTTAATTGACTCACAGTTCCTCAGG CTTAACAGGAAGCACGACTTGGGGGTCTTAGGAAACTTACAATCATGGCG GAAGGCGCTGGATGGTGTATTAGTCTGTTTTCACAGTTTTCAGAACTATC TGAGATTGGGTAATTTATAAAGAAAAGAGGTTTAATTGACTCACAGTTCC TCAGGCTTAACAGGAAGCACGACTTGGGGGTCTTAGGAAACTTACAATCA TGGCGGAAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0002 a0010c0011t0001 a0001c0001t0002 a0010c0011t0001	a0001c0001t0002g0296 a0010c0011t0001g0003 a0001c0001t0002g0296 a0010c0011t0001g0003	2	336	0.0060	310	c.142 others(329): Show c.1428-1596_1428-1595insCTGGATGGTGTATTAGTCTGTTTTCA CAGTTTTCAGAACTATCTGAGATTGGGTAATTTATAAAGAAAAGAGGTTT AATTGACTCACAGTTCCTCAGGCTTAACAGGAAGCACGACTTGGGGGTCT TAGGAAACTTACAATCATGGCGGAAGGCGCTGGATGGTGTATTAGTCTGT TTTCACAGTTTTCAGAACTATCTGAGATTGGGTAATTTATAAAGAAAAGA GGTTTAATTGACTCACAGTTCCTCAGGCTTAACAGGAAGCACGACTTGGG GGTCTTAGGAAACTTACAATCATGGCGGAAGGCG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(303): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	264	0.0038	310	c.25+ others(327): Show c.25+27795_25+27796insTTTTTTTTTTTTTTGAGATGGAGTTTCG CTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC63_chr12_110841987_110912535	110906009	A A	AAAATATA others(303): Show AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATATAATATATATTATATAAAATATATATTATATTATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTTTATAAAATA TATATTATATTATATAATATATATTTTATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATAATATATATTATA TAAAATATATATTATATTATTATAATATATATTATATAAAATATATATTA TATTATATAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	288	0.0035	310	c.154 others(329): Show c.1546+1219_1546+1220insAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATAATATATATTATATAAAATATATATTATATTAT ATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATATTATATAATATATATTATATAAAATATATATTATATTATTATAATAT ATATTATATAAAATATATATTATATTATATAATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGAGAAG others(303): Show GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18970.hp2 NA19058.hp2 NA18963.hp2 NA18970.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0128	3	288	0.0104	310	c.303 others(329): Show c.303+24026_303+24027insGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(303): Show CCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	284	0.0035	310	c.411 others(327): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(303): Show CCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCA CCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCACCAC AGCCCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0244 a0001c0024t0001g0244	1	284	0.0035	310	c.411 others(327): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGTGGGTGAGGATGG GAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGA GGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(303): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGG GCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGAC TCCTCCCTCTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	460	0.0022	310	c.-97 others(327): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGG GCCCCCCTCCCTCCGGGACTCCTCCCTCTAGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(303): Show CACATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATA CACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATA CGCATACACACACATATATGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0012 a0002c0002t0031g0012	1	442	0.0023	310	c.27 others(321): Show c.2752_*2753insACATATGTGTGTATACGCATACACACACATATGT GTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACAC ATATGTGTGTGTATACGCATACACACACATATATGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(303): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	418	0.0024	310	c.325 others(325): Show c.325-194_325-193insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61528359	A A	AGAGCGAG others(303): Show AGAGCGAGACTCCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	106	0.0094	310	c.170 others(331): Show c.170-215187_170-215186insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCGAGACTCCCTTTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(303): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18961.hp2 NA19060.hp2 others(2): Show NA18942.hp2 NA18961.hp2 NA19060.hp2 NA19062.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0043 a0001c0002t0005 a0001c0002t0043	a0001c0002t0005g0047 a0001c0002t0005g0167 a0001c0002t0005g0168 others(1): Show a0001c0002t0005g0047 a0001c0002t0005g0167 a0001c0002t0005g0168 a0001c0002t0043g0169	5	388	0.0129	310	c.88 others(321): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(303): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01993.hp2 HG02155.hp2 others(12): Show HG01928.hp2 HG01993.hp2 HG02155.hp2 NA18612.hp2 NA18944.hp2 NA18965.hp2 NA18970.hp2 NA18985.hp1 NA18986.hp2 NA18995.hp2 NA19056.hp1 NA19082.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0005c0012 a0006c0009 a0001c0002 a0005c0012 a0006c0009	a0001c0002t0005 a0005c0012t0005 a0006c0009t0005 a0001c0002t0005 a0005c0012t0005 a0006c0009t0005	a0001c0002t0005g0012 a0001c0002t0005g0071 a0001c0002t0005g0072 others(6): Show a0001c0002t0005g0012 a0001c0002t0005g0071 a0001c0002t0005g0072 a0001c0002t0005g0099 a0001c0002t0005g0171 a0001c0002t0005g0180 a0005c0012t0005g0051 a0006c0009t0005g0048 a0006c0009t0005g0170	15	388	0.0387	310	c.88 others(321): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDHR2_chr5_176544342_176600824	176592149	G G	GGTGTTGA others(303): Show GGTGTTGAGGTGATGGGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGA TGGTGATGGTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	344	0.0029	310	c.373 others(327): Show c.3735-574_3735-573insGTGTTGAGGTGATGGGGTGTTGGTGTTG AGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTG TTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTG GTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31			chr5	TogoVar
CDKAL1_chr6_20529457_21237404	21205830	C C	CTTTTTTT others(303): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGC GCCCAGCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0027 a0001c0009t0004g0027	1	196	0.0051	310	c.154 others(329): Show c.1548+4578_1548+4579insTTTGAGACAGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCG CGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884909	T T	TGATGCCG others(303): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGGTGG AGGTGATGCCGGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGT GGAGGTGATGCCGGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGG GTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGG GGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGG GGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCG GGGGTGGAGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0003 a0011c0027t0003	a0011c0027t0003g0259 a0011c0027t0003g0259	1	328	0.0031	310	c.177 others(327): Show c.1770+385_1770+386insCCTCGTGGGGAACGGGGGGGGTGGAGGT GATGCCGGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAG GTGATGCCGGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTG GAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGT GGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGG TGGAGGCGATGCCGGGGGTGGCGAGTGAGAGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP89_chr19_32870925_32976958	32954827	G G	GCTAATTT others(303): Show GCTAATTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0019 a0000c0005t0019	a0000c0005t0019g0113 a0000c0005t0019g0113	1	386	0.0026	310	c.306 others(327): Show c.306-1027_306-1026insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGAAAAATTAG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	3/18			chr19	TogoVar
CFAP97D2_chr13_114174257_114228085	114200056	T T	TGCTTACG others(303): Show TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTC CCCGCTGAGGGGTGACGGCGTGTCCCCGTGCTTACGGTCCCCGCTGAGGG GTGACGGCGTGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTAACAGGGCG TCCCCTCGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTT ATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0346 a0001c0001t0006g0346	1	400	0.0025	310	c.172 others(325): Show c.172-268_172-267insCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGCT TACGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGCTTACGGTCCCCG CTGAGGCGTAACAGGGCGTCCCCTCGCGTACGGTCCCCGCTGAGGCGTGA CGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTATGG TCCCCGCTGAGGGGTGACGGCGCGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFTR_chr7_117475025_117673665	117645839	T T	TAAGAAAG others(303): Show TAAGAAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0150 a0001c0005t0003g0150	1	202	0.0050	310	c.387 others(329): Show c.3873+3255_3873+3256insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAGAAAGCA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(303): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATATGAATATATATATGAATATATATATATGAATATATATAT GAATATATATATATGAATATATATATATGAATATATATATATGAATATAT ATATGAATATATATATATGAATATATATATGAATATATATATATGAATAT ATATATATGAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	245	0.0041	310	c.124 others(325): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATATTCATATATATATTCATATATATATA TTCATATATATATATTCATATATATATATTCATATATATATTCATATATA TATATTCATATATATATTCATATATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHODL_chr21_18239833_18272370	18251734	T T	TATTTATT others(303): Show TATTTATTTTAATATATAAAATATTTATTTTATTTATTTATTTTAATATA TAAAATATTTATTTTTTTATTTTAATATATAAAATATTTATTTATTTTAA TATATAAAATATTTTTTTATTTTAATATATAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTTAATAT ATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0294 a0001c0001t0016g0294	1	402	0.0025	310	c.80- others(325): Show c.80-4775_80-4774insATTTATTTTAATATATAAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTATTTTTTTATTTTAATATATA AAATATTTATTTATTTTAATATATAAAATATTTTTTTATTTTAATATATA AAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAAATATTT ATTTTATTTATTTTAATATATAAAATAAATATTTATTTTATTTATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATAAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(303): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCGCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0003 a0028 a0003 a0028	a0003c0007 a0028c0043 a0003c0007 a0028c0043	a0003c0007t0001 a0028c0043t0001 a0003c0007t0001 a0028c0043t0001	a0003c0007t0001g0038 a0028c0043t0001g0038 a0003c0007t0001g0038 a0028c0043t0001g0038	2	428	0.0047	310	c.217 others(327): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575619	T T	TGTATATA others(303): Show TGTATATACACGTGTATATATACTCATATACATGTGTATATACACGTGTA TATATACTCATATACATGTGTATATACACGTGTATATATACTCATATACA TGTGTATATACACGTGTATATATACTCATATACATGAGTATATACACGTG TATATATACTCATATACATGAGTATATATACACGTGTATATATACTCATA TACATGAGTATATATACACGTGTATATATACTCATATACATGAGTATATA CACGTGTATATATACTCATATACATGAGTATATATACACGTGTATATACT CATATACATGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0297 a0001c0003t0003g0297	1	372	0.0027	310	c.894 others(325): Show c.894+651_894+652insTCATGTATATGAGTATATACACGTGTATAT ATACTCATGTATATGAGTATATATACACGTGTATATACTCATGTATATGA GTATATATACACGTGTATATATACTCATGTATATGAGTATATATACACGT GTATATATACTCATGTATATGAGTATATATACACGTGTATATACTCATGT ATATGAGTATATATACACGTGTATATACACATGTATATGAGTATATATAC ACGTGTATATACACATGTATATGAGTATATATACACGTGTATATACACAT GTATATGAGTATATATACACGTGTATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(303): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG01891.hp2 others(5): Show HG00741.hp2 HG01257.hp1 HG01891.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp2 NA19000.hp2 NA19091.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0008c0025t0001	a0001c0001t0001g0081 a0001c0002t0001g0216 a0001c0002t0003g0243 others(5): Show a0001c0001t0001g0081 a0001c0002t0001g0216 a0001c0002t0003g0243 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0003t0002g0133 a0001c0003t0002g0147 a0008c0025t0001g0234	8	324	0.0247	310	c.365 others(329): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098468	T T	TATATAAA others(303): Show TATATAAATATATAAAAATATATATAAATATATATAAATATATATAAATA TAAAAATATATATAAATATATAAATATATATAAGTATATAAATATATATA AATATATATAAGTATATATAAATATATATAAGTATATATAAGTATATATA AATATATATAAATATATGCAAATATATATAAATATATATATAAATAGATA TATAAATATATATAAATAGATATAAATAGATATATAAATACATATATAAA TATATATAAATACATATATAAATATATATAAATATATAAATTTATATAAA TACATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0087 a0001c0001t0014g0087	1	264	0.0038	310	c.181 others(329): Show c.1812+3003_1812+3004insTTATATATGTATTTATATAAATTTAT ATATTTATATATATTTATATATGTATTTATATATATTTATATATGTATTT ATATATCTATTTATATCTATTTATATATATTTATATATCTATTTATATAT ATATTTATATATATTTGCATATATTTATATATATTTATATATACTTATAT ATACTTATATATATTTATATATACTTATATATATTTATATATATTTATAT ACTTATATATATTTATATATTTATATATATTTTTATATTTATATATATTT ATATATATTTATATATATTTTTATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178294452	G G	GAGCTCCC others(303): Show GAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGA GCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGC TCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTC CCTCCCCAAATCACTACCGAGCTCCCTCCCAAATCACTACCGAGCTCCCT CCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCC CCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCA AATCACTACCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02572.hp1 others(3): Show HG01884.hp1 HG02280.hp1 HG02572.hp1 HG02809.hp1 HG02965.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0003 a0002c0009t0006 a0001c0001t0003 a0002c0009t0006	a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0142 others(3): Show a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0142 a0001c0001t0003g0212 a0001c0001t0003g0213 a0002c0009t0006g0232	6	236	0.0254	310	c.407 others(327): Show c.407-4084_407-4083insGGGTAGTGATTTGGGAGGGAGCTCGGTA GTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGT GATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGA TTTGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTT GGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGG GGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGG AGGGAGCTCGGTAGTGATTTGGGGAGGGAGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL5A2_chr2_189026898_189184761	189094695	C C	CAAGAAAC others(303): Show CAAGAAACATACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(95): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19076.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0014	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0019 a0001c0025 a0003c0014 a0004c0013 a0005c0011 a0006c0009 a0007c0015 a0014c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0002t0002 a0001c0010t0001 a0001c0010t0007 a0001c0019t0001 a0001c0025t0001 a0003c0014t0001 a0004c0013t0001 a0005c0011t0001 a0006c0009t0001 a0007c0015t0001 a0014c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(95): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0007g0057 a0001c0001t0013g0013 a0001c0001t0013g0145 a0001c0001t0022g0086 a0001c0002t0002g0059 a0001c0010t0001g0101 a0001c0010t0007g0075 a0001c0019t0001g0072 a0001c0025t0001g0125 a0003c0014t0001g0039 a0003c0014t0001g0120 a0004c0013t0001g0113 a0004c0013t0001g0114 a0005c0011t0001g0077 a0005c0011t0001g0080 a0006c0009t0001g0019 a0006c0009t0001g0027 a0007c0015t0001g0108 a0014c0020t0001g0123	98	248	0.3952	310	c.457 others(327): Show c.457-2276_457-2275insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGTATGTTTCTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COMMD10_chr5_116080025_116298287	116163180	T T	TAGAATGT others(303): Show TAGAATGTATTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18968.hp1 HG02976.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0321 a0002c0003t0001g0030 a0001c0001t0001g0321 a0002c0003t0001g0030	2	350	0.0057	310	c.510 others(329): Show c.510+29016_510+29017insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGAATGTATTTCTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(303): Show TATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0007 a0014c0017t0007	a0014c0017t0007g0075 a0014c0017t0007g0075	1	272	0.0037	310	c.173 others(327): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(303): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGA GGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCAT GAAGAGTCACAGAGGGATGAGGGGATGGAGGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAG AGGGATGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCA CAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGAT GGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	386	0.0026	310	c.827 others(325): Show c.827+380_827+381insTCCATCCCTCCATCCCCACATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTTCATGACCCTCC ATCTCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCC TCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCC CCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCC ATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTC CATCCCTCCATCCCTCCATCCCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CUX2_chr12_111029165_111355554	111326223	T T	TTTTGTTT others(303): Show TTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGG GGAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02572.hp1 HG02630.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0003t0001g0014 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0003t0001g0014 a0001c0003t0001g0033 a0001c0003t0001g0040 a0001c0003t0001g0088	6	100	0.0600	310	c.292 others(329): Show c.2926+3659_2926+3660insGGGTGGGGGAGGGGTGGGTTTTGTTT ATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGT TTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTG TGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGGTGG others(303): Show TGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGGGG TTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATA GTGTTGGGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGA GGGGTGGGTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTA TAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGATGGGTTTTGTTT ATAGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	100	0.0100	310	c.292 others(329): Show c.2926+3802_2926+3803insTGGGGGAGGGGTGGGTTTGTTTATAG TGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGA GGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTGTTT ATAGTGTTGGGGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGATGGG GAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGT TTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGG GGAGGGATGGGTTTTGTTTATAGTGTTGTGGTGG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWF19L2_chr11_107321360_107462825	107451453	T T	TAAATCAA others(303): Show TAAATCAATGAGGCCGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	392	0.0026	310	c.339 others(327): Show c.339+2996_339+2997insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCTCCCGGCCTCATTGATTT	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	3/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107451453	T T	TAAATCAA others(303): Show TAAATCAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp2 HG01891.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0352 a0001c0001t0002g0356 a0001c0001t0002g0352 a0001c0001t0002g0356	2	392	0.0051	310	c.339 others(327): Show c.339+2996_339+2997insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCATTGATTT	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	3/17			chr11	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(303): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	394	0.0025	310	c.36 others(321): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAATATTATATATATATAATATGTAATATTATATATATATAA TATGTAATATTATATATATATAATATGTAATATTATATATATATAATATG TAATATTATATATATATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(303): Show ATATATATATGTGTATATATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATATGTGTATATATATATATATATATATGT GTATATATATATATATATATATGTGTATATATATATATATATATATATGT GTATATATATATATATATATATGTGTATATATATATATATATATATGTGT ATATATATATATATATATATGTGTATATATATATATATATATATATATAT GTGTATATATATATATATATATATATATATGTGTATATATATATATATAT ATATATATATG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0202 a0002c0002t0008g0202	1	334	0.0030	310	c.290 others(325): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATATATATGTGTATATATATATATATATATATATATATATGTGTATATA TATATATATATATATGTGTATATATATATATATATATATGTGTATATATA TATATATATATATATGTGTATATATATATATATATATATGTGTATATATA TATATATATATATGTGTATATATATATATATATATATGTGTATATATATA TATATATATATATATATGTGTATATATATATATATATATATATATATGTG TATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(303): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATATGTGTGTATATATATATATATATATGTGTGTATAT ATATATATATATATGTGTATATATATATATATATATGTGTGTATATATAT ATATATATATGTGTGTGTATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0268 a0002c0002t0005g0269 a0002c0002t0003g0268 a0002c0002t0005g0269	2	334	0.0060	310	c.290 others(325): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATATATGTGTGTATATATATATA TATATATGTGTGTATATATATATATATATATGTGTATATATATATATATA TATGTGTGTATATATATATATATATATGTGTGTGTATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(303): Show ATATATATGTGTGTATATATATATATATATATATATGTGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTGTATATATATATATATATATATATATAT GTGTATATATATATATATATATATATGTGTATATATATATATATATGTGT ATATATATATATATATATATATATGTGTATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATATGTGTATATATATATATAT ATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0108 a0002c0002t0108	a0002c0002t0108g0237 a0002c0002t0108g0237	1	334	0.0030	310	c.290 others(325): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATGTGTGTATATATATATATATATATATATATGTGTATATATATATATA TATATATATATGTGTATATATATATATATATATATGTGTGTATATATATA TATATATATATATATATGTGTATATATATATATATATATATATGTGTATA TATATATATATATGTGTATATATATATATATATATATATATGTGTATATA TATATATATATATATATATGTGTATATATATATATATATATATATATATG TGTATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(303): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTC CCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCC CCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	292	0.0034	310	c.165 others(325): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGG GGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGG GGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(303): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCCTCCCCTC CCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCC CCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	292	0.0034	310	c.165 others(325): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGGAGGAG GGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGG GGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGG GGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DAB1_chr1_56989778_57429060	57126134	T T	TGGTTATT others(303): Show TGGTTATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCGTGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	138	0.0073	310	c.306 others(329): Show c.306+10408_306+10409insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAACGGCACGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAGAATAACC	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	4/14			chr1	TogoVar
DAPP1_chr4_99811827_99875190	99819700	T T	TTCAATTA others(303): Show TTCAATTATTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03942.hp2 NA18979.hp1 HG01981.hp1 HG03942.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0023g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0023g0255	3	366	0.0082	310	c.101 others(327): Show c.101+2698_101+2699insTTTTTTTTTTTTTTTTGGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCAATTATTTTT	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(303): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00639.hp2 others(78): Show HG00323.hp1 HG00408.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG03017.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19006.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19070.hp1 NA19081.hp2 NA19083.hp2 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0031 others(67): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0006g0034 a0001c0001t0006g0199 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0010g0243 a0001c0001t0010g0260 a0001c0001t0014g0237	81	416	0.1947	310	c.500 others(327): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(303): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02132.hp1 NA20905.hp2 HG01099.hp2 HG02132.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210	3	416	0.0072	310	c.500 others(327): Show c.500-1868_500-1867insTTCTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(303): Show TAGAAAGATCTGGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01069.hp1 others(27): Show HG00544.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp1 NA18939.hp2 NA18940.hp1 NA18954.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18978.hp1 NA18982.hp1 NA18993.hp1 NA18995.hp1 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19078.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0035 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0198 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0001g0290	30	416	0.0721	310	c.500 others(327): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCACCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCAF5_chr14_69045881_69158119	69048833	G G	GTTGCCCA others(303): Show GTTGCCCAGGCTGGAGTGCAGTGGCACTATCTAGGCTCACTGCTACCTCT GCCTCCCAGGTTCAAGTGATTCTTGTGCCTTAGCCTCCCGAGTCGCTGGG ATTACAGGCACGCATCAACACACCCAGCTAATATTTGTGTTTTTAGCAGA GACAGGGTTTTCCTATGTTGGCCAGTCTGGTTTTGAACTCCTCACCTCAA GGGATCTGCCTGCTTTGGCCTCCCAAAATGCTGGGATTATAGGTGTGAGC CAACAGTGGTTTGTTTTAAATGCATTAAAAAAAATTTTTTTTTAGACAGG GTCTTACTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01433.hp2 others(26): Show HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04228.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0009	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0005t0002 a0003c0009t0002	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0121 others(26): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0121 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0005t0002g0003 a0003c0009t0002g0106	29	244	0.1189	310	c.50 others(321): Show c.5023_*5024insGAGAGTAAGACCCTGTCTAAAAAAAAATTTTTTT TAATGCATTTAAAACAAACCACTGTTGGCTCACACCTATAATCCCAGCAT TTTGGGAGGCCAAAGCAGGCAGATCCCTTGAGGTGAGGAGTTCAAAACCA GACTGGCCAACATAGGAAAACCCTGTCTCTGCTAAAAACACAAATATTAG CTGGGTGTGTTGATGCGTGCCTGTAATCCCAGCGACTCGGGAGGCTAAGG CACAAGAATCACTTGAACCTGGGAGGCAGAGGTAGCAGTGAGCCTAGATA GTGCCACTGCACTCCAGCCTGGGCAA	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding		2047		chr14	TogoVar
DCP1B_chr12_1941053_2009457	1980675	A A	ACCTTTAA others(303): Show ACCTTTAACTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTA ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	378	0.0053	310	c.319 others(329): Show c.319+12588_319+12589insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATAGTTAAAGG	DCP1B	ENSG00000151065.14	transcript	ENST00000280665.11	protein_coding	3/8			chr12	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(303): Show GCATTTGGCATTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(131): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0009 others(1): Show a0001c0001 a0002c0004 a0003c0009 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0002c0004t0002 a0003c0009t0002 a0004c0008t0055	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0020 others(129): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0215 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0287 a0001c0001t0003g0003 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0106 a0001c0001t0004g0115 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0254 a0001c0001t0004g0265 a0001c0001t0012g0036 a0001c0001t0012g0113 a0001c0001t0012g0283 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0020g0027 a0001c0001t0020g0052 a0001c0001t0024g0002 a0001c0001t0026g0094 a0001c0001t0026g0294 a0001c0001t0036g0028 a0001c0001t0037g0092 a0001c0001t0044g0093 a0001c0001t0046g0112 a0001c0001t0047g0194 a0001c0001t0054g0087 a0001c0001t0056g0166 a0001c0001t0057g0167 a0001c0001t0058g0165 a0001c0001t0059g0129 a0002c0004t0002g0021 a0002c0004t0002g0023 a0003c0009t0002g0180 a0004c0008t0055g0107	134	302	0.4437	310	c.11 others(323): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTGGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(303): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18943.hp1 NA18951.hp1 others(3): Show HG02040.hp2 NA18943.hp1 NA18951.hp1 NA18959.hp1 NA18973.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0222 others(3): Show a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0222 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230	6	345	0.0174	310	c.150 others(330): Show c.1503+9815_1503+10124dupAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGT GTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCT CCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTG ACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar

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Search Results (Total: 10000 hits)