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
C7orf50_chr7_992006_1143247	1031692	G G	GGGCAGAG others(400): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGA CCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGACC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGG GAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGG TCCGGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	326	0.0031	407	c.130 others(426): Show c.130-21550_130-21549insGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCC CGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGC CCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGT CTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCG GACCACTCTGCCCTCCCTGCAGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	T T	TCAGGTGC others(400): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGTCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 NA18522.hp1 HG01884.hp1 HG02615.hp2 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0055 a0004c0025 a0004c0055	a0004c0025t0013 a0004c0025t0022 a0004c0055t0022 a0004c0025t0013 a0004c0025t0022 a0004c0055t0022	a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0055t0022g0009 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0055t0022g0009	3	248	0.0121	407	c.226 others(426): Show c.2267+4698_2267+4699insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	T T	TCAGGTGC others(400): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0013 a0004c0025t0022 a0004c0025t0013 a0004c0025t0022	a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0025t0013g0217 a0004c0025t0022g0010	2	248	0.0081	407	c.226 others(426): Show c.2268-3812_2268-3406dupCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCA GTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTG CCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGT GGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGT TAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCC CTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(400): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	338	0.0030	407	c.300 others(424): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(400): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0066 a0066	a0066c0112 a0066c0112	a0066c0112t0002 a0066c0112t0002	a0066c0112t0002g0120 a0066c0112t0002g0120	1	338	0.0030	407	c.300 others(424): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(400): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0287 a0002c0063t0001g0287	1	338	0.0030	407	c.300 others(424): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(400): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAAAGG CGAAGGATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGG AAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAG GATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAAGCTC TGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTG AAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGG CGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGA AGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGG ATCTGAGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	250	0.0040	407	c.-21 others(424): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCT TCCCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTC CCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCC GCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCCCCCT CATGTCCTTCCCCCCTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(400): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0035 a0001c0008t0035	a0001c0008t0035g0149 a0001c0008t0035g0149	1	410	0.0024	407	c.-22 others(424): Show c.-22-1977_-22-1976insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGTCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894145	T T	TTACACAC others(400): Show TTACACACATGCACGCACACATGCACACACACATGCATACATATACACAT GCACACAATGTACACACATGCACGCACACATGCACACACACATGCATACA TATACACATGCACACAATGTACACACATGCACGCACACATGCACACACAC ATGCATACATATACACGCACACAATGTACACACATGCACGCACACATGCA CACACACATGCATACATATACACATGCACACAATGTACACGCACGCACAC ATGCACACACACATGCATACATATACACATGCACACAATGTACACACATG CACGCACACATGCACACACACATGCATACATATACACATGCACACAATGT ACACACATGCACGCACACATGCACACACACATGCATACATATACACATGC ACACAATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	284	0.0035	407	c.380 others(424): Show c.380-1661_380-1660insCATTGTGTGCATGTGTATATGTATGCAT GTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATA TGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGC ATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCGTGTACATTG TGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTG TGTACATTGTGTGCGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGT GCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCA TGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGT GTGTGTGCATGTGTGCGTGCATGTGTGTA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(400): Show GGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19091.hp2 HG01257.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0271 a0001c0001t0001g0283	2	398	0.0050	407	c.666 others(422): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802942	C C	CTGGGGGC others(400): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19066.hp2 NA18945.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0235 a0001c0001t0001g0240	2	398	0.0050	407	c.666 others(422): Show c.666+156_666+157insTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13			chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(400): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	398	0.0025	407	c.666 others(422): Show c.666+495_666+496insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278720	C C	CCCCTCCC others(400): Show CCCCTCCCCCCTCCCCTCCCTCTCCCCTCCCCTCCCCCTCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	256	0.0039	407	c.-45 others(428): Show c.-455+14556_-455+14557insCTCCCCCCTCCCCTCCCTCTCCCC TCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(400): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCTCTCCCCTCCCC TCCCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0234	1	256	0.0039	407	c.-45 others(428): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(400): Show AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	388	0.0026	407	c.487 others(424): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(400): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	388	0.0026	407	c.487 others(424): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(400): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTC TCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	407	c.-42 others(418): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(400): Show TATAAATATATATGTAAATATATAAATATATATAAATAAATATATATAAA TATATATAAATATAAATATATATATAAATATGTAATTCTAAATATATATT GTAAATATATATAAATATAAATATATTTATAAATATAATATATTATATAT TTATAAATATATAAATATATATATATTATAAATATATAAATATATATATA TTTATAAATATATAAATATATATAAAAATATATATAAATATATAAGAAAT ATAAATATATATAAATATATAAATTATGTAAATATATATAAATATATATA TAAATATATATATAAATATATATATAATATATATATAAATATATATATAT AAATATATATAAATATATAACTATATAAATAAATATATATAAATATATAA ATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	264	0.0038	407	c.181 others(426): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTATATATATATTTATATATATATTTATATATATATTTATATATA TTTACATAATTTATATATTTATATATATTTATATTTCTTATATATTTATA TATATTTTTATATATATTTATATATTTATAAATATATATATATTTATATA TTTATAATATATATATATTTATATATTTATAAATATATAATATATTATAT TTATAAATATATTTATATTTATATATATTTACAATATATATTTAGAATTA CATATTTATATATATATTTATATTTATATATATTTATATATATTTATTTA TATATATTTATATATTTACATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(400): Show ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATTTATATATATTTATATATATATTTATATATATT TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	94	0.0106	407	c.-2+ others(424): Show c.-2+56102_-2+56103insAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(400): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAA GGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18966.hp1 NA18951.hp2 NA18966.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0030 a0004c0005t0040 a0002c0004t0030 a0004c0005t0040	a0002c0004t0030g0115 a0004c0005t0040g0210 a0002c0004t0030g0115 a0004c0005t0040g0210	2	216	0.0093	407	c.923 others(426): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCC CCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(400): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGG GGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	367	0.0027	407	c.-43 others(418): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(400): Show TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	367	0.0027	407	c.-42 others(418): Show c.-4255_-4254insGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(400): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAAA ATAAAAAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0178 a0001c0003t0045g0178	1	316	0.0032	407	c.216 others(426): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAATTAAAAAAAAAAATAAAAATAAAAATAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	516381	G G	GGGGAGGG others(400): Show GGGGAGGGGAAGGGGGGGAAGGGGGGGAAGGGAGGGGAAAGGGGGGGAAG GGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGG GGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAG GGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGG GAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGA AAGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGGGAAG GGAGGGGAAAGGGGGGGAAGGGAGGGGAAAGGGGGGGAAGGGAGGGGAAA GGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGG AGGGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0014 a0001c0019t0006g0014	1	88	0.0114	407	c.86- others(424): Show c.86-29852_86-29851insTTTCCCCTCCCTTCCCCCCTTTCCCCTC CCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCCCTCCCTTCCCCCCC TTTCCCCTCCCTTCCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCC TTCCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTT CCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCC CCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCC CTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCC CTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCCTTTCCCCTCC CTTCCCCCCCTTCCCCCCCTTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556194	C C	CCACCCAC others(400): Show CCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCC TCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCC CAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTC CCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCA GGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCCA CCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCC GAGGACAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	407	c.86- others(424): Show c.86-69665_86-69664insCTGTCCTCGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCT GTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCT GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG GGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522827	G G	GCCCAGCC others(400): Show GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCT CAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0297 a0001c0005t0004g0297	1	358	0.0028	407	c.236 others(426): Show c.2363-1095_2363-1094insGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAA GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCTCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCGAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC13_chr3_132412502_132544032	132470622	C C	CCCCCCCA others(400): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCTGGGCCGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG01361.hp2 others(24): Show HG00323.hp2 HG01168.hp2 HG01361.hp2 HG01433.hp2 HG01975.hp2 HG01981.hp1 HG02132.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18955.hp2 NA18962.hp2 NA18967.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19085.hp1 NA19090.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0005c0008 a0006c0007 a0001c0003 a0005c0008 a0006c0007	a0001c0003t0003 a0005c0008t0003 a0006c0007t0003 a0001c0003t0003 a0005c0008t0003 a0006c0007t0003	a0001c0003t0003g0007 a0001c0003t0003g0014 a0001c0003t0003g0015 others(23): Show a0001c0003t0003g0007 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0230 a0001c0003t0003g0232 a0001c0003t0003g0235 a0001c0003t0003g0242 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0284 a0005c0008t0003g0251 a0005c0008t0003g0252 a0006c0007t0003g0243 a0006c0007t0003g0244 a0006c0007t0003g0246	27	318	0.0849	407	c.220 others(426): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGTGGCTG GCTGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC25_chr9_111626334_111659345	111641675	G G	GGGGGGGG others(400): Show GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	412	0.0024	407	c.337 others(424): Show c.337-5424_337-5423insTCAGCCCCCCTGCCCGGCCAGCCACCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYNC2I1_chr7_158851558_158951189	158916761	C C	CAGTAAGG others(400): Show CAGTAAGGATGATTGTGAAACCTTGACACGGTGATTGACATTAAGGATGA TTGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGAC ACGCTGGTTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATT AAGGATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGATTGT GAAACGTCAACACGGTGGTTGACATTAAGGATGATTGTGAAACGTTGCTG GTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCAACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTTGACACGCTGGCTGACATTAAGGATGATTGTGAAACATCAACACGC TGGTTGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	407	c.179 others(426): Show c.1792-1978_1792-1977insGTAAGGATGATTGTGAAACCTTGACA CGGTGATTGACATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTG AAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCAACACGGTGGTTGACATTAA GGATGATTGTGAAACGTTGCTGGTTGACATTAAGGATGATTGTGAAACGT CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGT TGACATTAAGGATGATTGTGAAACGTTGACACGCTGGCTGACATTAAGGA TGATTGTGAAACATCAACACGCTGGTTGAGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(400): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	250	0.0040	407	c.259 others(426): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(400): Show CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCACACACACCCCCTACCACCATCCTCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	250	0.0040	407	c.259 others(426): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EPS8L1_chr19_55070869_55092923	55078251	T T	TGCTGGGG others(400): Show TGCTGGGGGCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCA GAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGA CTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCT GGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGG GAAGAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	340	0.0029	407	c.58+ others(420): Show c.58+131_58+132insCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGG GGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCC TAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGA AGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGG	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1329444	T T	TGGGGACA others(400): Show TGGGGACATGAGCCACTGCACCTGCCCTTAATACTTTTGAAAACACGTGT ATGGTCATGTTATTTCCTCTTAAAATTTTCCAAAGGCTTCTTATCCTTTC AGGATAAAATGCAGACTCCGAAGCCTGACGTTGAAGGTTCCCCATAATCT GACTTCTCCTGTTGTACGCCACGCCCATGTGACCTCACGTTTCTCCTTTC TCTCTCTTTCGCTTCCCCCTCTTGCCTTTTTCCTTTCTCCCCCCTCCCCT TTTCTCCCTCAGTTAAGATGCTACTTCTTCCATGACAAATGATGCTATAG GAGGAAGTCATTTCTTTCTCTGCGTTTGCTTTGAACCTCTCCTATTGCTT TGTCTTTTTTTTCTTACCATGGATTAAAATATCTGTGTACATGTTTTCTG TTGAATTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0042 a0002c0002t0037g0042	1	162	0.0062	407	c.278 others(428): Show c.2780+39435_2780+39436insGACATGAGCCACTGCACCTGCCCT TAATACTTTTGAAAACACGTGTATGGTCATGTTATTTCCTCTTAAAATTT TCCAAAGGCTTCTTATCCTTTCAGGATAAAATGCAGACTCCGAAGCCTGA CGTTGAAGGTTCCCCATAATCTGACTTCTCCTGTTGTACGCCACGCCCAT GTGACCTCACGTTTCTCCTTTCTCTCTCTTTCGCTTCCCCCTCTTGCCTT TTTCCTTTCTCCCCCCTCCCCTTTTCTCCCTCAGTTAAGATGCTACTTCT TCCATGACAAATGATGCTATAGGAGGAAGTCATTTCTTTCTCTGCGTTTG CTTTGAACCTCTCCTATTGCTTTGTCTTTTTTTTCTTACCATGGATTAAA ATATCTGTGTACATGTTTTCTGTTGAATTAGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(400): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	292	0.0034	407	c.571 others(424): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(400): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02630.hp2 others(3): Show HG01243.hp2 HG02622.hp2 HG02630.hp2 HG03130.hp1 HG03486.hp1 NA19030.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0006 a0004c0004 others(3): Show a0001c0001 a0001c0006 a0004c0004 a0004c0016 a0005c0005 a0006c0014	a0001c0001t0001 a0001c0006t0002 a0004c0004t0002 others(3): Show a0001c0001t0001 a0001c0006t0002 a0004c0004t0002 a0004c0016t0006 a0005c0005t0002 a0006c0014t0002	a0001c0001t0001g0008 a0001c0006t0002g0005 a0004c0004t0002g0077 others(3): Show a0001c0001t0001g0008 a0001c0006t0002g0005 a0004c0004t0002g0077 a0004c0016t0006g0075 a0005c0005t0002g0046 a0006c0014t0002g0070	6	292	0.0206	407	c.571 others(424): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(400): Show GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGGTCCGCACTGCCC CACACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCGGTCCACACTGCCCCGCACCCCTCCCGGCTCACCTGCGGT CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCC CCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCCCCGCA CCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTC ACCTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	390	0.0026	407	c.145 others(424): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGC AGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGG GGTGCGGGGCAGTGTGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGT GCGGAGCGCAGGTGAGCTGGGAGGGGTGTGGGGCAGTGCGGACCGCAGGT GAGCGGGGAGGGGTGCGGGGCAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GLT6D1_chr9_135618648_135644540	135619921	A A	ATCTCCCC others(400): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCCGTCTCCCCTGT CTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	436	0.0023	407	c.41 others(418): Show c.4175_*4176insCGGGGGAGACAGGGGAGACGGGGGGAGTAGAGGG GGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGACGGGG GAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAA GGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGG AGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATGGGG GAGACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGGAGTAGGGGGAGAA GGGGGAGATAGGGGAGAAGAGGGAGATGGGGGAGTAGGGGGAGTAGGGGA AGAAGGGGGAGAAGGGGATACTGGGCAGATGGGGGAGAAGGGGGAGAAGG GGAGTAGGGGGAGAAGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3726		chr9	TogoVar
GNG4_chr1_235542685_235654784	235587632	G G	GGATGTGT others(400): Show GGATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGG GGTAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTG AGTGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGG GGGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTG TGGGGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACT GTGGGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTAGGGT GGGGGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGTGTGGGG TGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGT GTGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	330	0.0030	407	c.-10 others(424): Show c.-10-3785_-10-3784insACACCCACACCACACACCCTGACACACA CCCACAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCC CACCCCACACCCTCCCACACTCACACCCCCACCCTACACCCTCCCACACT CACATTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCC CACACCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACC CCCACACCCTCCCACACTCATGCTCACCCCCCACCCCACACCCTCCCACA CACTCACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCCCAC ACCCTCCCACACTCACTCTCACCCCCTACCCCACACCCAGACACACACCC ACACACACCCATACTCTCACACACACATC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(400): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCCTCCT TCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCC TTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCC CTCCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	290	0.0035	407	c.972 others(422): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCCTTCCCCACCTTCCCCCT CCCCCTTCCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(400): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTATATATATAATATAATTATATATATT TATATTATATATATTATATATAATATAATTATATATATTTATATTATATA TATATTATATTATATATAATTATATATAATTATATATATATTATATTATA TATAATTATATATAATTATATTATATATATTATATGTAATATAATTATAT ATATTTATATTATATATTATATATAATATAATTATATATATAATTATAAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	404	0.0025	407	c.384 others(424): Show c.384-4702_384-4701insATATATATATTATAATTATATATATAAT TATATTATATATAATATATAATATAAATATATATAATTATATTACATATA ATATATATAATATAATTATATATAATTATATATAATATAATATATATATA ATTATATATAATTATATATAATATAATATATATATAATATAAATATATAT AATTATATTATATATAATATATATAATATAAATATATATAATTATATTAT ATATATAATATATATAATTATATTATATATATAATATATATAATTATATT ATATATATAATATATATAATTATATTATATATATAATATATATAATTATA TTATATATATAATATATATAATTATATTATATATATAATATATATAATTA TATTATATATATAATATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(400): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATGTATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATATATATGGAACATATATATACGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAACATATATATGGAAT ATATATATATGGAACATATATATGGAATATATATATATGGAATATATATA TATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0124 a0003c0003t0004g0124	1	323	0.0031	407	c.-21 others(418): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATGTATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATATATATGGAACATATATATACGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ACATATATATGGAATATATATATATGGAACATATATATGGAATATATATA TATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(400): Show TAAGAAAAGAAAGAAAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0124 a0002c0003t0001g0124	1	308	0.0033	407	c.127 others(426): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTCTTTTCTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(400): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATATATAAATATAT AAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAATATAT ATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAA AAATATATTTTATATATTTTATACATAAAATATAATATATAAAATATATA AATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAAT ATATTATATGTTATATATTATATATTATTATGTTATATATTATATATTAT TATATTATATATATTATAATATGTATTATATTATATATTATATAATATAA AATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	389	0.0026	407	c.-51 others(418): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATATATAAATATATAAATATAAATATATATTTATAGATATATAGATTTT ACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATTTAT AGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATAA TATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATA AATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(400): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATAATATATATTATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATATAATA TATATTATATATATAATTCTATATATATAATATATATTATATATATAATT CTATATATATAATATATATTATATATATAATTCATATATATAATATATAT TATATATATAATTCTATATATATAATATATATTATATATATAATTATATA TATAATATATATTATATATATAATTCTATATATATAATATATATTATATA TATAATTCTATATATAATATATATTATATATATAATTCTATATATATAAT ATATATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	80	0.0125	407	c.62- others(426): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATG AATTATATATATAATATATATTATATATATAGAATTATATATATAATATA TATTATATATATAGAATTATATATATAATATATATTATATATATAGAATT ATATATATAATATATATTATATATATAGAATTATATATAATATATATTAT ATATAGAATTATATATATAATATATATTATATATATAGAATTATATATAT AATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(400): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCACCATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATCACCACCACCATCACCATCACCATCACCACCACCA CCACCATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02258.hp2 HG03209.hp1 HG02148.hp1 HG02258.hp2 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245 a0002c0001t0020g0205 a0002c0001t0020g0207 a0002c0001t0020g0245	3	330	0.0091	407	c.691 others(422): Show c.691-367_691-366insAATGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTGATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGG TGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(400): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCACCATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCA CCACCATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0058 a0002c0001t0058	a0002c0001t0058g0204 a0002c0001t0058g0204	1	330	0.0030	407	c.691 others(422): Show c.691-367_691-366insAATGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGTGATGG TGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF1A_chr2_240708767_240825219	240786790	G G	GAGGGTAG others(400): Show GAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTAGGGGCCAGC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGT GAGAGGGTAGGGGCCAGCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCA CCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGA GTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGC CACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCT GAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGG GCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCAGCATCAGGGCCC CTGAGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02280.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0053 a0001c0005 a0001c0053	a0001c0005t0005 a0001c0053t0007 a0001c0005t0005 a0001c0053t0007	a0001c0005t0005g0033 a0001c0053t0007g0036 a0001c0005t0005g0033 a0001c0053t0007g0036	2	330	0.0061	407	c.430 others(422): Show c.430-278_430-277insTCACTCAGGGGCCCTGATGCTGGCCCCTAC CCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGT CCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCT ACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGG GTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCC CTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGTCCTGATGCTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGC CCCTACCCTCTCACTCAGGGGTCCTGATGCTGGCCCCTACCCCCTCACTC AGGGGTCCTGATGGTGGCCCCTACCCT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KNDC1_chr10_133155219_133231412	133155780	A A	ATTGACGT others(400): Show ATTGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGATGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTC AACTGTGGAGTATTGACATCATTGGAAAGAGAACCTCAACTGTGGGGTAT TGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTGACGTCATTGGA AAGAGAACCTCAACTGTGGGGTATTGACGTCATTGGAAAGAGAACCTCAA CTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGTATTG ACGTCGTTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAA GAGAACCTCAACTGTGGAGTATTGACGTCATTGGAAAGAGAACCTCAACT GTGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0223	1	332	0.0030	407	c.-46 others(418): Show c.-4688_-4687insTTGACGTCATTGGAAAGAGAACCTCAACTGTGGA GTATTGATGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCAT TGGAAAGAGAACCTCAACTGTGGAGTATTGACATCATTGGAAAGAGAACC TCAACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGAGT ATTGACGTCATTGGAAAGAGAACCTCAACTGTGGGGTATTGACGTCATTG GAAAGAGAACCTCAACTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTC CACTGTGGAGTATTGACGTCGTTGGAAAGAGAACCTCAACTGTGGAGTAT TGACGTCATTGGAAAGAGAACCTCAACTGTGGAGTATTGACGTCATTGGA AAGAGAACCTCAACTGTGGGGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4438		chr10	TogoVar
LARS1_chr5_146108034_146187650	146174615	A A	ATATCCAT others(400): Show ATATCCATATATATATATCCATATATATATATCCATATATATATATCCAT ATATATATATCCATATATATATATATCCATATATATATATCCATATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATCC ATATATATATATATCCATATATATATCCATATATATATATATCCATATAT ATATATCCATATATATATATATCCATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATATATCCATATATATATATCCATAT ATATATATATCCATATATATATATCCATATATATATATATCCATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	284	0.0035	407	c.126 others(424): Show c.126-1842_126-1841insATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATA	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(400): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCCGTCTCCCCTGT CTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	407	c.96 others(416): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTT CTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCC CTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACT CCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCC TACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCT CTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCC CCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCC TTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CCGTCTCCCCTGTCTCCCCCG	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar

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