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
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACAC others(204): Show CCACACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACATACACACTCACATACAGACACAACCACACCACACACACACACACA CAGACACAACCACACCACACACACACACACATACACACTCACATACAGAT ACAACCACACCA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18980.hp2 NA19012.hp1 NA18972.hp2 NA18980.hp2 NA19012.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0001 a0009c0009t0001 a0002c0002t0001 a0009c0009t0001	a0002c0002t0001g0120 a0009c0009t0001g0169 a0009c0009t0001g0255 a0002c0002t0001g0120 a0009c0009t0001g0169 a0009c0009t0001g0255	3	460	0.0065	211	c.193 others(228): Show c.1939-640_1939-639insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACAGACACAACCACACCACACACACACACACATACACACTCACATA CAGATACAACCACACCACACACACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(204): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCG CCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0204 a0001c0009t0002g0204	1	410	0.0024	211	c.-22 others(228): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGCAA others(204): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGA GGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0004 a0002c0003t0010g0004	1	364	0.0028	211	c.234 others(228): Show c.234+6831_234+6832insCCTTCTCCTTCCTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTTTTTTTTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA19005.hp1 HG02280.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0087 a0001c0001t0002g0004 a0001c0001t0002g0087	2	410	0.0049	211	c.-22 others(222): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTC CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	410	0.0024	211	c.-22 others(222): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGGAAGGGAGGGGGAGGGTGGTGG GAGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(204): Show AGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAG TGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGA GGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGA AGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01175.hp2 others(4): Show HG00738.hp2 HG01071.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG03688.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0009 a0002c0002t0020 a0002c0002t0034 others(2): Show a0002c0002t0009 a0002c0002t0020 a0002c0002t0034 a0002c0002t0114 a0002c0004t0034	a0002c0002t0009g0001 a0002c0002t0009g0126 a0002c0002t0020g0181 others(3): Show a0002c0002t0009g0001 a0002c0002t0009g0126 a0002c0002t0020g0181 a0002c0002t0034g0128 a0002c0002t0114g0204 a0002c0004t0034g0136	7	256	0.0273	211	c.727 others(228): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(204): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAG TGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGA GGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGA AGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0080 a0001c0001t0077g0080	1	256	0.0039	211	c.727 others(228): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCCT others(204): Show CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0193 a0001c0001t0033g0193	1	256	0.0039	211	c.-45 others(232): Show c.-455+14579_-455+14580insCCTCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELSR1_chr22_46356174_46542620	46487606	C C	CGGGGGAG others(204): Show CGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTC CAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGG GGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGGCGCGGGGGAGG GGAGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCA GGTGGGGGGCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0033 a0033	a0033c0035 a0033c0035	a0033c0035t0002 a0033c0035t0002	a0033c0035t0002g0066 a0033c0035t0002g0066	1	104	0.0096	211	c.354 others(232): Show c.3545-23262_3545-23261insACGCCCCCCACCTGCACCCTGGAC TCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCCTCCCCCGCGC CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0253 a0001c0001t0017g0253	1	336	0.0030	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACATTTAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19058.hp2 NA18991.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0130 a0002c0003t0002g0129 a0001c0001t0002g0130 a0002c0003t0002g0129	2	336	0.0060	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02818.hp1 others(2): Show HG00735.hp1 HG01243.hp1 HG02818.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0321 a0001c0001t0003g0287 a0001c0001t0003g0288 others(2): Show a0001c0001t0001g0321 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290	5	336	0.0149	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01167.hp2 others(8): Show HG00741.hp2 HG01106.hp2 HG01167.hp2 HG02109.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp2 NA18949.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0185 a0001c0001t0005g0272 a0001c0001t0005g0273 others(8): Show a0001c0001t0002g0185 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0007g0186	11	336	0.0327	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20296054	C C	CCTGCCTT others(204): Show CCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCC CTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTT CCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCT TCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCTT CCTTCCTGCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp1 others(5): Show HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01978.hp1 HG02293.hp1 NA18942.hp2 NA18951.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0020	a0001c0001 a0002c0002 a0014c0031 others(1): Show a0001c0001 a0002c0002 a0014c0031 a0020c0040	a0001c0001t0002 a0002c0002t0002 a0014c0031t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0014c0031t0002 a0020c0040t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0148 a0001c0001t0002g0181 a0002c0002t0002g0182 a0014c0031t0002g0043 a0020c0040t0002g0160	8	236	0.0339	211	c.321 others(230): Show c.3217-2126_3217-2125insTGCCTTCCCTTCCTCCCTCCCTCCCT ACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTC CTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTT TCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCC CATCCTCCTTCCCTCCCTCCTTCCTTCCTGCCTTC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647833	G G	GGTGGAGA others(204): Show GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCG GCCGACGTGGACACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCC AGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	392	0.0026	211	c.253 others(226): Show c.253-503_253-502insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACGGACCCCGCGCTGGGTGTCCACGTCGGCCGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL4A1_chr13_110143963_110312157	110201301	C C	CGGAGGAA others(204): Show CGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAA GAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGA GGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGGAG GAGGAAGAGAAGGAGGGGGCGGAGGAAGAGAAGGAGGGGGAGGAGGAAGA GAAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0028 a0004c0021t0001g0028	1	344	0.0029	211	c.108 others(228): Show c.1084+136_1084+137insTCCCCCTCCTTCTCTTCCTCCTCCCCCT CCTTCTCTTCCTCCGCCCCCTCCTTCTCTTCCTCCTCCCCCCTCCTTCTC TTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCT CCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCC TTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255622	A A	AGGCAGGA others(204): Show AGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0342 a0002c0026t0004g0342	1	344	0.0029	211	c.85- others(228): Show c.85-12889_85-12888insCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(204): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	350	0.0057	211	c.510 others(230): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CGTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18984.hp2 NA19085.hp2 HG00597.hp2 NA18984.hp2 NA19085.hp2	a0009 a0053 a0009 a0053	a0009c0010 a0053c0037 a0009c0010 a0053c0037	a0009c0010t0003 a0053c0037t0001 a0009c0010t0003 a0053c0037t0001	a0009c0010t0003g0206 a0009c0010t0003g0210 a0053c0037t0001g0205 a0009c0010t0003g0206 a0009c0010t0003g0210 a0053c0037t0001g0205	3	350	0.0086	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0222 a0009c0010t0001g0222	1	350	0.0029	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTGACCCGGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCGGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0221 a0006c0007t0001g0221	1	350	0.0029	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCGGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRY1_chr12_106986364_107098549	107026134	C C	CATATATA others(204): Show CATATATATTACATATATAACATATATAACATATATATGTTATATATGTT ATATATGTAATATATATTATATATATATTACATATATATAAAATATATAT ATATATTACATATATATAAAATATATATATATATTACATATATATATAAA ATATATATATATATTACATATATATAAAAAATATATATATATTACATATA TATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0152 a0001c0001t0008g0152	1	320	0.0031	211	c.159 others(228): Show c.159-3943_159-3942insATATTTTATATATATATGTAATATATAT ATATTTTTTATATATATGTAATATATATATATATTTTATATATATATGTA ATATATATATATATTTTATATATATGTAATATATATATATATTTTATATA TATGTAATATATATATAATATATATTACATATATAACATATATAACATAT ATATGTTATATATGTTATATATGTAATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CST9_chr20_23597410_23610917	23610481	T T	TATTTTTT others(204): Show TATTTTTTATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTATTGTTTTTTTTTTCTTTTTTTTTTTTATTTTTTT TTTTTTCTTTTTTTTTTTTATTTTTATTTTTTTTTTACTTGTTTTTTTTT TTTTTTTTTTTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGT TATTTTTGTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	211	c.-46 others(222): Show c.-4618_-4617insGAAACAAAAATAACAAAAAAAAAAAAAAAAAAAG AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAACAAGTAAAAAAAA AATAAAAATAAAAAAAAAAAAGAAAAAAAAAAAAATAAAAAAAAAAAAGA AAAAAAAAACAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAAAAAAAAAAAAAAAAAATAAAAAAT	CST9	ENSG00000173335.5	transcript	ENST00000376971.4	protein_coding		4565		chr20	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(204): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	360	0.0028	211	c.28- others(226): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15933443	A A	AGTGTGCG others(204): Show AGTGTGCGGGCAGAGGAATGAGTGAGCGGGAGAGGAATGAAGTGAGCGGG GAGAGGAGATGAGTGAGCGGAGGAGAGGAATGAGTGAGCGAGGAGAGGAG TGAGTGAGCGAGAGAGGAAGTGAGTGAGCGGCAGAGGAAGTGAGTGAGCG GGGAGAGGAGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0374 a0002c0001t0004g0374	1	386	0.0026	211	c.198 others(226): Show c.198+767_198+768insCGCTCACTCATTCCTCTGCCCGCTCACTCA TTCCTCTGCCCGCTCACTCATTCTCCTCTCCCCGCTCACTCACTTCCTCT GCCGCTCACTCACTTCCTCTCTCGCTCACTCACTCCTCTCCTCGCTCACT CATTCCTCTCCTCCGCTCACTCATCTCCTCTCCCCGCTCACTTCATTCCT CTCCCGCTCACTCATTCCTCTGCCCGCACAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135938	G G	GCTCCTCC others(204): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGC CCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	211	c.33 others(222): Show c.3333_*3334insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGC ACACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGG GAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACC GTGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		655		chr12	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(204): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0007g0105 a0001c0001t0001g0021 a0001c0001t0007g0105	2	367	0.0055	211	c.-42 others(222): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(204): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	284	0.0035	211	c.101 others(230): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP1_chr18_3491032_4460307	3741020	C C	CCACCACC others(204): Show CCACCACCACCACCACCATCACCTCACCACCACCACCACCATCACCACCA CCACCACCACCATCACCTCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCACATCACCTCACCACCACCACCACCATCACCACCACCATCA CCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp2 HG02257.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0038 a0001c0001t0012 a0001c0001t0038	a0001c0001t0012g0053 a0001c0001t0038g0075 a0001c0001t0012g0053 a0001c0001t0038g0075	2	80	0.0250	211	c.135 others(230): Show c.1350+1314_1350+1315insAGGTGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1691791	T T	TCGGCCCT others(204): Show TCGGCCCTGGTTTAAACACGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGCCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCTGGTACCGAGGCA GGGAGCCGGATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	211	c.279 others(228): Show c.2796+181_2796+182insACGGTACCGAGGCAGGGAGGCGGATACG GCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGCCGGATACGGCCCTGGT TTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCTGGTACCG AGGCAGGGAGCCGGATACGGCCCTGGTTTAAAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(204): Show GAGAAGGTAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGA AAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0036 a0036	a0036c0021 a0036c0021	a0036c0021t0017 a0036c0021t0017	a0036c0021t0017g0009 a0036c0021t0017g0009	1	126	0.0079	211	c.199 others(230): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(204): Show GAGAAGGTAAGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0068 a0007c0018t0001g0068	1	126	0.0079	211	c.199 others(230): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTCCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(204): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATAATATATATATTATATATATTATATATATAATATATATATAATA TATATATAATATATATATAATATATATATTTAAAAGTATATATATATATA ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	298	0.0034	211	c.554 others(228): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATTATATA TATAATATATATATAATATATATATAATATATATATAATATATATATTTA AAAGTATATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619070	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	250	0.0040	211	c.-10 others(230): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619070	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	250	0.0040	211	c.-10 others(230): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCCT others(204): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	250	0.0040	211	c.-10 others(230): Show c.-107+5593_-107+5594insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619366	C C	CCCCCCTG others(204): Show CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	250	0.0040	211	c.-10 others(230): Show c.-107+5652_-107+5653insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619434	T T	TGCTCCCC others(204): Show TGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	250	0.0040	211	c.-10 others(230): Show c.-107+5736_-107+5737insCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89638669	A A	ACACACAC others(204): Show ACACACACACACACCCCACCCCTGCACACACACACACACACCGCACCCCT GCACACACACACACTGCACCCCTGCACACACACACACCCCATCCCTGCAC GCACACACCCCACCCCTGCACGCACACACCCCCCACCCCTGCACACACAC ACCCCACCCCTGCACACACACACATACCCCACCCCTGCACACACACACAC ACCCCACCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	250	0.0040	211	c.44 others(220): Show c.447_*448insCACACACACACACCCCACCCCTGCACACACACACAC ACACCGCACCCCTGCACACACACACACTGCACCCCTGCACACACACACAC CCCATCCCTGCACGCACACACCCCACCCCTGCACGCACACACCCCCCACC CCTGCACACACACACCCCACCCCTGCACACACACACATACCCCACCCCTG CACACACACACACACCCCACCCCTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		237		chr16	TogoVar
DYM_chr18_49031387_49465645	49440986	T T	TAATATAT others(204): Show TAATATATATAATATATATAATATATTTATATAATATATTATATATAATA TATTATATAATATATAATATATTTATATAAATATATTATATTTTATATAT ATATTATATAATATATAATATATTTATATTATATATTATATATATATTTA TATATAATATATAAATATATAATATATTTATATATTATATATATATTTAT ATATAATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0001 a0001c0003t0026g0001	1	290	0.0035	211	c.-53 others(230): Show c.-53-10540_-53-10539insTATATATTATATATAAATATATATAT AATATATAAATATATTATATATTTATATATTATATATAAATATATATATA ATATATAATATAAATATATTATATATTATATAATATATATATAAAATATA ATATATTTATATAAATATATTATATATTATATAATATATTATATATAATA TATTATATAAATATATTATATATATTATATATATT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EXOC2_chr6_480154_698139	501582	A A	ATTATATA others(204): Show ATTATATATATCTATATATTATCTATATATTATATATATCTATATATAAT CTATATATTATATATATCTATATATATTATATATATATTATATATATCTA TATATATTATATATAATATATAGATATATATTATATATCTATATATATTA TATATATTATATATATCATATATATTATATATAATATATAGATATATATT ATATATCTATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	272	0.0037	211	c.238 others(230): Show c.2381-1883_2381-1882insATATAGATATATAATATATATCTATA TATTATATATAATATATATGATATATATAATATATATAATATATATAGAT ATATAATATATATCTATATATTATATATAATATATATAGATATATATAAT ATATATATAATATATATAGATATATATAATATATAGATTATATATAGATA TATATAATATATAGATAATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBN2_chr5_128252909_128543245	128540058	C C	CAGATATA others(204): Show CAGATATATCATATATCATATATATCAGATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CATATATATCATATATCATATATATCATATATATCATATATCATATATAT CAATCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0037 a0003c0016t0037	a0003c0016t0037g0234 a0003c0016t0037g0234	1	236	0.0042	211	c.-24 others(222): Show c.-2456_-2455insTATATATGATTGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT CTGATATATATGATATATGATATATCT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1814		chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132556657	T T	TCCAACCG others(204): Show TCCAACCGCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACC CCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATG CTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCT GCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCT TCGTGCTGCACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(87): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18960.hp2 NA18966.hp2 NA18984.hp1 NA18990.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19088.hp2 NA19090.hp1 NA20805.hp2 NA20905.hp1	a0000 a0001 a0002 others(6): Show a0000 a0001 a0002 a0005 a0010 a0012 a0018 a0027 a0028	a0000c0015 a0000c0019 a0000c0057 others(21): Show a0000c0015 a0000c0019 a0000c0057 a0000c0067 a0000c0069 a0000c0077 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0001c0021 a0001c0068 a0002c0002 a0002c0004 a0005c0051 a0005c0052 a0005c0053 a0005c0054 a0010c0034 a0010c0065 a0012c0018 a0018c0079 a0027c0070 a0028c0066	a0000c0015t0003 a0000c0015t0004 a0000c0015t0010 others(38): Show a0000c0015t0003 a0000c0015t0004 a0000c0015t0010 a0000c0015t0035 a0000c0019t0006 a0000c0057t0011 a0000c0067t0013 a0000c0069t0013 a0000c0077t0003 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0013 a0001c0003t0016 a0001c0003t0020 a0001c0003t0042 a0001c0003t0050 a0001c0005t0006 a0001c0005t0014 a0001c0006t0010 a0001c0006t0022 a0001c0006t0037 a0001c0012t0010 a0001c0021t0014 a0001c0068t0016 a0002c0002t0002 a0002c0004t0001 a0002c0004t0007 a0002c0004t0008 a0002c0004t0031 a0005c0051t0021 a0005c0052t0006 a0005c0053t0006 a0005c0054t0003 a0010c0034t0006 a0010c0065t0020 a0012c0018t0009 a0012c0018t0011 a0018c0079t0013 a0027c0070t0021 a0028c0066t0014	a0000c0015t0003g0011 a0000c0015t0004g0047 a0000c0015t0010g0082 others(87): Show a0000c0015t0003g0011 a0000c0015t0004g0047 a0000c0015t0010g0082 a0000c0015t0035g0023 a0000c0019t0006g0098 a0000c0019t0006g0127 a0000c0057t0011g0066 a0000c0067t0013g0033 a0000c0069t0013g0028 a0000c0077t0003g0055 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0132 a0001c0003t0004g0016 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0022 a0001c0003t0004g0034 a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0270 a0001c0003t0007g0008 a0001c0003t0007g0009 a0001c0003t0007g0010 a0001c0003t0007g0135 a0001c0003t0007g0136 a0001c0003t0013g0040 a0001c0003t0013g0046 a0001c0003t0013g0054 a0001c0003t0016g0035 a0001c0003t0016g0048 a0001c0003t0020g0001 a0001c0003t0042g0043 a0001c0003t0050g0131 a0001c0005t0006g0049 a0001c0005t0006g0074 a0001c0005t0006g0075 a0001c0005t0006g0094 a0001c0005t0006g0095 a0001c0005t0006g0096 a0001c0005t0006g0097 a0001c0005t0006g0099 a0001c0005t0006g0101 a0001c0005t0006g0102 a0001c0005t0006g0266 a0001c0005t0006g0267 a0001c0005t0006g0268 a0001c0005t0006g0295 a0001c0005t0014g0077 a0001c0006t0010g0078 a0001c0006t0022g0143 a0001c0006t0037g0006 a0001c0012t0010g0083 a0001c0012t0010g0084 a0001c0021t0014g0027 a0001c0021t0014g0029 a0001c0021t0014g0030 a0001c0068t0016g0004 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0004t0001g0036 a0002c0004t0001g0042 a0002c0004t0001g0130 a0002c0004t0007g0005 a0002c0004t0008g0007 a0002c0004t0031g0128 a0005c0051t0021g0038 a0005c0052t0006g0093 a0005c0053t0006g0076 a0005c0054t0003g0068 a0010c0034t0006g0100 a0010c0065t0020g0001 a0012c0018t0009g0065 a0012c0018t0011g0063 a0012c0018t0011g0064 a0018c0079t0013g0031 a0027c0070t0021g0024 a0028c0066t0014g0032	90	348	0.2586	211	c.645 others(228): Show c.645+8631_645+8632insGCTGTCCTGTGGGACGCTCCTCTCCAGG CCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCT CTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCT CCAGGCCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACG CTCCTCTCCAGGCCTTCGTGCTGCACCCCAACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(204): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGGCGCAC ACCCCCCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCT GCTGCCCGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGG CGCACACCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	2	372	0.0054	211	c.633 others(224): Show c.633+94_633+95insGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGGG GGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTGGG AGCGGATGGTGGCTTTGGGGTGGGGGGGGTGTGCGCCCAGGCTGGGTGGT GGGGGGGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAG GTGGGAGCGGATGGTGGCTTTGGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(204): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGCG GGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA20129.hp1 HG02630.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0135 a0001c0002t0001g0036 a0001c0002t0001g0135	2	364	0.0055	211	c.-20 others(220): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241806913	T T	TTCCCTCC others(204): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	314	0.0032	211	c.27 others(222): Show c.2747_*2748insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2627		chr2	TogoVar
GAP43_chr3_115618510_115726483	115698212	A A	AAATATAT others(204): Show AAATATATAATATATAATATATAATATATATAAAATATATATAATATATA ATATATAATATATATAAAATATATATAATATATAATATATAATATATATA AAATATATATAATATATAATATATAATATATATAAAATATATATAATATA TAATATATAATATATATAAAATATATATAATATATAATATATAATATATA TAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	352	0.0028	211	c.628 others(230): Show c.628+21624_628+21625insATATATATAAAATATATATAATATAT AATATATAATATATATAAAATATATATAATATATAATATATAATATATAT AAAATATATATAATATATAATATATAATATATATAAAATATATATAATAT ATAATATATAATATATATAAAATATATATAATATATAATATATAATATAT ATAAAATATATATAATATATAATATATAATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GLB1L3_chr11_134271379_134324564	134321552	A A	AATATGGC others(204): Show AATATGGCACATATACTCCATGGAATACTATGCAGCCATAAAAAAGGAGG AGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTC AGCAAACTATCGCAAGGACAGAAAACCAGACCCTGCATGTTCTCACTCAT AGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCA CACACTGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02809.hp2 HG02559.hp1 HG02622.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0008 a0001c0002t0015 a0002c0006t0008 a0001c0002t0008 a0001c0002t0015 a0002c0006t0008	a0001c0002t0008g0372 a0001c0002t0015g0298 a0002c0006t0008g0371 a0001c0002t0008g0372 a0001c0002t0015g0298 a0002c0006t0008g0371	3	422	0.0071	211	c.26 others(222): Show c.2610_*2611insATATGGCACATATACTCCATGGAATACTATGCAG CCATAAAAAAGGAGGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTG GAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAGACCCTG CATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACA GGAAGGGGAACATCACACACTGGGGCC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding		1989		chr11	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(204): Show CCCTCCCCCTCCTCCCTCCTCCCCCCCCCCTCCTCCCCCCTCCCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCC CCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCC CCTCCTCCCCCCCCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCC CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0116 a0004c0007t0010g0116	1	290	0.0035	211	c.427 others(228): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCCCCCCCCCTCCT CCCCCCTCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCCCCTCCTCCTCCC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	323703	T T	TGTGTAGC others(204): Show TGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCAT AGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGG GTTCCGTCTGCCCTGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGT GAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	155	0.0065	211	c.-49 others(222): Show c.-4917_-4916insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACCGTCCCTGAGCTCAC CACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGATTGACGGCTACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4908		chrX	TogoVar

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Search Results (Total: 10000 hits)