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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(693): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	700	c.34 others(711): Show c.3435_*3436insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGAATGGAGCA GAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACOT13_chr6_24662077_24710046	24683759	T T	TTCTAATT others(693): Show TTCTAATTAGCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAATGTGAAA GGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCCTGAGCC CATGAACACAGATTTTTTTTTTTTCCCTAAGACTGAAAGCTGAGACCCGG AGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAGGGAGGAG CTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCCAGGAGACAGGGCCCC TGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGGGCTGGCT CCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGTGCCAAAT CTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCAGGAGGAC CTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCCACCTCTG GGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAGCAACTGT ACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCCCAGTAGG GGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAGGCGTTTC CGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTCTGCTAAT ACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGATGATGTA A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00621.hp1 others(40): Show HG00140.hp1 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG02015.hp2 HG02132.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18977.hp1 NA18984.hp1 NA18994.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19082.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0044 a0001c0001t0045	a0001c0001t0001g0193 a0001c0001t0004g0004 a0001c0001t0004g0036 others(29): Show a0001c0001t0001g0193 a0001c0001t0004g0004 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0112 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0021g0244 a0001c0001t0021g0245 a0001c0001t0021g0258 a0001c0001t0024g0221 a0001c0001t0025g0218 a0001c0001t0044g0219 a0001c0001t0045g0113	43	402	0.1070	700	c.82- others(717): Show c.82-14108_82-14107insTTTTTTTTTTTTTTTTTTTTTTTTAATG TGAAAGGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCCT GAGCCCATGAACACAGATTTTTTTTTTTTCCCTAAGACTGAAAGCTGAGA CCCGGAGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAGGG AGGAGCTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCCAGGAGACAGG GCCCCTGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGGGC TGGCTCCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGTGC CAAATCTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCAGG AGGACCTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCCAC CTCTGGGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAGCA ACTGTACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCCCA GTAGGGGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAGGC GTTTCCGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTCTG CTAATACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGATG ATGTAATCTAATTAGCCTTTCT	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACOT13_chr6_24662077_24710046	24683759	T T	TTCTAATT others(693): Show TTCTAATTAGCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAATGTGAAA GGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCCTGAGCC CATGAACACAGATTTTTTTTTTTTCCCTAAGACTGAAAGCTGAGACCCGG AGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAGGGAGGAG CTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCTAGGAGACAGGGCCCC TGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGGGCTGGCT CCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGTGCCAAAT CTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCAGGAGGAC CTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCCACCTCTG GGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAGCAACTGT ACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCCCAGTAGG GGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAGGCGTTTC CGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTCTGCTAAT ACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGATGATGTA A	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18982.hp1 NA18992.hp1 others(1): Show HG02683.hp2 NA18982.hp1 NA18992.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0206	4	402	0.0100	700	c.82- others(717): Show c.82-14108_82-14107insTTTTTTTTTTTTTTTTTTTTTTTTAATG TGAAAGGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCCT GAGCCCATGAACACAGATTTTTTTTTTTTCCCTAAGACTGAAAGCTGAGA CCCGGAGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAGGG AGGAGCTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCTAGGAGACAGG GCCCCTGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGGGC TGGCTCCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGTGC CAAATCTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCAGG AGGACCTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCCAC CTCTGGGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAGCA ACTGTACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCCCA GTAGGGGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAGGC GTTTCCGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTCTG CTAATACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGATG ATGTAATCTAATTAGCCTTTCT	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(693): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATATAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAATT C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0006 a0009c0013t0006	a0009c0013t0006g0229 a0009c0013t0006g0229	1	236	0.0042	700	c.409 others(719): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAT AGAATATATATACTATATATATTCTGTATATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTATATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTATAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(693): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCC TTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCC CTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCC CCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCT CCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTC CCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTT TTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCC TTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	268	0.0037	700	c.-37 others(711): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC TCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCT CATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCAC CTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCC CTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGC ACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCT GCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATC TGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132759118	C C	CTGCGGAG others(693): Show CTGCGGAGTGGCACCCCGGGGCACCCATGTGGCAGAGTGGATTGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCA CCCCGGGGCACCCACGTGGCAGAGAGGATCGTGCGGACTGGCACCCCGGG GCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCC ACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGG CAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGT GGATCGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGC TGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCAGA GTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCAC CCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCCCGGG GCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCC ACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGG CAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGT GGATCGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGC T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(7): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG01169.hp1 HG04204.hp2 NA18947.hp2 NA18956.hp2 NA19000.hp2 NA19004.hp2 NA19074.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0011	a0001c0001 a0004c0004 a0008c0015 others(1): Show a0001c0001 a0004c0004 a0008c0015 a0011c0022	a0001c0001t0001 a0004c0004t0001 a0004c0004t0019 others(2): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0019 a0008c0015t0001 a0011c0022t0001	a0001c0001t0001g0173 a0004c0004t0001g0148 a0004c0004t0001g0154 others(7): Show a0001c0001t0001g0173 a0004c0004t0001g0148 a0004c0004t0001g0154 a0004c0004t0001g0165 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0019g0153 a0008c0015t0001g0197 a0011c0022t0001g0164	10	350	0.0286	700	c.181 others(717): Show c.181+2499_181+2500insAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCACACTGCGCGATCCACTCTGCCATGTGGGTGCCCTGGGGTG CCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTC CGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGC GATCCTCTCTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCA CTCTGCCACGTGGGTGCCCCGGGGTGCCACTCTGCGTGATCCACTCTGCC ACGTGGGTGCCCCGGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGG GTGCCCCGGGGTGCCACTCTGCAGCGATCCTCTCTGCCACGTGGGTGCCC CGGGGTGCCACACTGCGCGATCCACTCTGCCATGTGGGTGCCCTGGGGTG CCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTC CGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGC GATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCGCACGATCCTC TCTGCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTCTGCCA CGTGGGTGCCCCGGGGTGCCACTCCGCAGCAATCCACTCTGCCACATGGG TGCCCCGGGGTGCCACTCCGCA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD28_chr3_15662236_15802979	15742671	C C	CCCGGCCA others(693): Show CCCGGCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCC CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGG GAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC TCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCT GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGTCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCC G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	340	0.0029	700	c.352 others(717): Show c.352-5439_352-5438insCGGGGGCTGAACCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCCTCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGA CTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAG GGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCT CCCAGACGGTGCGGCTGGCCGG	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(693): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCC C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0106 a0001c0002t0038g0106	1	340	0.0029	700	c.352 others(717): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGC AGAGGGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCT CCCTCCCAGACGGTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(693): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCTGATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0053 a0006c0053	a0006c0053t0001 a0006c0053t0001	a0006c0053t0001g0021 a0006c0053t0001g0021	1	300	0.0033	700	c.654 others(719): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATC AGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG GGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(693): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCC CGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAG CTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGT CATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGG ACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAG ACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0016 a0004c0005t0001g0016	1	218	0.0046	700	c.-23 others(711): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACC AGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTG ATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGG TAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTC TCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTC CTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGA CCAGTCCTGGTCTCGG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2183		chr10	TogoVar
C20orf96_chr20_265863_295750	278938	G G	GGGAGGGG others(693): Show GGGAGGGGCGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGG GCGGGACGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGA GGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGG GCGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGC GGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGA GGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGACGGAGG GCGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGA GGGAGGGCGGGACGGAGGGAGGGAGGGCGGGATGGAGGGAGGGAGGGAGG GACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGC GGGACGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACG GAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGA C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19054.hp2 NA19087.hp1 NA18959.hp2 NA19054.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0060 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0060 a0001c0005t0001g0103 a0001c0005t0001g0104	3	410	0.0073	700	c.465 others(715): Show c.465+233_465+234insGTCCCGCCCTCCCTCCCTCCCTCCCTCCCG CCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCATCCCGCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCT CCCTCCGTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCGTCCCGCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGT CCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCCTCCCTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCC CTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCC CTCCCTCCCTCCGCCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(693): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCT TTCCTTCCCTCCTTCCCTTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTT CCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCC C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	142	0.0070	700	c.244 others(719): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(693): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGTTGG GGGTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGTGGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGCTGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGT GGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGG GGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGCTGGGGAGGGGT GGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTG GGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAG GAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGTG TGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGG GGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGCGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGG TGGGGGAGGGTGGGGTGGGAGGGGGTGGGGGTGGGGTGGGGGAGGGGTGG GGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTGGG A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0100 a0001c0009t0007g0100	1	284	0.0035	700	c.712 others(717): Show c.712-2416_712-2415insTCCCACCCCACCCCACCCCCTCCCACCC CACCCCACCCCTCCCACCCCACCCCACCCCTCCCCCACCCCACCCCCACC CCCTCCCACCCCACCCTCCCCCACCCACCCCCTCCCACCCCACCCCACCC CTCCCACCCCACCCCACCCGCACCCCTCCCCCACCCCACCCACACCCTTC CCCCACCCCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCAC CCCACCCCCTCCCACCCCACCCACACCCTTCCCCCACCCCACCCCTCCCT CCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCA CCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCAC CCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCACCCATACCCTT CCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCAC CCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCC TCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCCAACCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CFAP46_chr10_132803392_132947570	132821221	G G	GATGTGTG others(693): Show GATGTGTGCTGACGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGA TGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTG TGTTGTGTGAGTGCTGATGTGTGCTGTCTGTGCGCTGTGTGCTGTGTGAG TGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGCGCTTGTG TGTGCTGTGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATG TGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGT GAGTGCTGATGTGTGCTGTGTGTGCACTTGTGTGTGCTGTGTGTGTGCTG ATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTGCACTGTGTGCTGTGTGC GGTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGATGTGTGCTGTGTGA GTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGT GTGCTGTGTGTGCAGTGCTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTG TGCTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTTTGTATGT GCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTCTGTGTGCTGATGTGT GCTGTGTGAGTGATGTGTGCTGTCTGTGCGCTGATGTGTGCTGATGTGTG C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0230 a0038c0037t0001g0230	1	246	0.0041	700	c.711 others(719): Show c.7118-6308_7118-6307insGCACACATCAGCACACATCAGCGCAC AGACAGCACACATCACTCACACAGCACACATCAGCACACAGAGCACACAT CAGCACACACACAGCACACATCAGCACATACAAAGCACACATCAGCACAC ACAGCACACATCAGCACTCACAGCACACAGCACACATCAGCACACACACA GCACACAGCACTGCACACACAGCACACATCACCACACACACAGCACACAG TGCACACATCAGCACACATCAGCACTCACACAGCACACATCAGCACACAT CAGCGCACACACAGCACACATCACCGCACACAGCACACAGTGCACACATC AGCACACACAGCACACAGCACACATCAGCACACACACAGCACACACAAGT GCACACACAGCACACATCAGCACTCACACAGCACACATCACTGCACACAC AGCACACATCAGCACACACAGCACACATCAGCACACATCAGCACTCACAC AGCACACATCAGCACACACAGCACACACAAGCGCACACACAGCACACATC AGCGCACACACAGCACACATCAGCACTCACACAGCACACAGCGCACAGAC AGCACACATCAGCACTCACACAACACACAGCACACATCAGCACTCACACA GCACACAGCACACACACAGCACACATCAGCGCACACACAGCACACGTCAG CACACAGCACACGTCAGCACACAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
COPS3_chr17_17241616_17286246	17252332	G G	GCAGATAA others(693): Show GCAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTG GTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCC AGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGA TAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTG TGGGCTGTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGT ACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTG GTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCC TGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACGCTTTGGTGTG TGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGT A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	352	0.0028	700	c.102 others(719): Show c.1023+2526_1023+2527insTACCCAGGAGAGCCCACACACCAAAG CGTTATCTGTACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCA GGACAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCACACAC CAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGT ACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCA CACACCAAAGCGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTA TCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGA GCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCACACACCAAAG CGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTATCTGTACCCT GGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACAC CAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGT ACCCTGGACAGCCCACACACCAAAGCGTTATCTGTACCCAGGACAGCCCA CACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTA TCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACA GCCCACACACCAAAGCGTTATCTG	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
CYP4F11_chr19_15907377_15939529	15932181	T T	TGAGGAGA others(693): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAGTGAGTGAGTGAGGAGAAGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAAGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAAG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0114 a0003c0003t0012g0114	1	386	0.0026	700	c.198 others(717): Show c.198+2029_198+2030insGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCTTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCTTCTCC TCACTCACTCACTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932663	A A	AGGAGAGG others(693): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0114 a0003c0003t0012g0114	1	386	0.0026	700	c.198 others(717): Show c.198+1547_198+1548insCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCACTCCTCT CCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932825	G G	GAGAGGAA others(693): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGAAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0020	1	386	0.0026	700	c.198 others(717): Show c.198+1385_198+1386insGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTTCTCTGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241766451	A A	AGAAGTTG others(693): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGTGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0350 a0007c0007t0005g0350	1	412	0.0024	700	c.130 others(719): Show c.1307-1256_1307-1255insGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGTGGAGAACTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766751	A A	AGAAGTTG others(693): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	412	0.0024	700	c.130 others(717): Show c.1307-956_1307-955insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1297510	A A	ATGAACAG others(693): Show ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCATGTGAGACGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAG GGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGA GAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACG TGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGC G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	700	c.106 others(719): Show c.106+38670_106+38671insGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGCGT GAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAG ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CATGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0178 a0001c0049t0002g0178	1	192	0.0052	700	c.441 others(719): Show c.4410+4993_4410+4994insTGGTAGAGGTGGCATGTGTGGTAGAG GTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618390	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 NA18963.hp1 others(4): Show HG01255.hp1 HG01255.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0013 a0001c0001 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0110 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0006t0001g0138 a0001c0013t0001g0057	7	192	0.0365	700	c.441 others(719): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618392	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	192	0.0052	700	c.441 others(719): Show c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03669.hp2 HG00558.hp1 HG03669.hp2	a0001 a0019 a0001 a0019	a0001c0051 a0019c0049 a0001c0051 a0019c0049	a0001c0051t0002 a0019c0049t0001 a0001c0051t0002 a0019c0049t0001	a0001c0051t0002g0195 a0019c0049t0001g0104 a0001c0051t0002g0195 a0019c0049t0001g0104	2	208	0.0096	700	c.446 others(719): Show c.4465-2144_4465-2143insTGGTAGAGGTGGCATGTGTGGTAGAG GTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 NA18963.hp2 others(4): Show HG01255.hp1 HG01255.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA19085.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0009 a0001c0001 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0108 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0006t0001g0072 a0001c0009t0001g0089	7	208	0.0337	700	c.446 others(719): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618392	T T	TGTGTGTG others(693): Show TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	208	0.0048	700	c.446 others(719): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(693): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCTGACCTCACCTGCA TCCTCAGGGAACCTGCCCATCTTCCACCCTGACCCTCCTCTGCATCCTCA GGGAACCTGCCCACCCTCCACCCCACCCTCCCTGCATCCTCAGGGAACCT GCCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCAC CCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCCTCCC CCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCA CCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCACCTTCCACCCCACCCCTCCTCCGCATCCTCAG GGAACCTGCCCATCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGC TGCCCCAACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCC ACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCCTC CACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0120 a0001c0007t0002g0120	1	374	0.0027	700	c.14 others(711): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGGTGGGCAGGCTCCCTGAGGATGCGGAGG AGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGG GGTGGAGGGTTGGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGGTGGGGTGGAAGGT GGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGG CTCCCTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCT GAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATA CAGAGGAGGGTCGGGGGGGGAGGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTC AGGGTGGAGGATGGGGCAGGTTCCCTGAGGATGCAGGGAGGGTGGGGTGG AGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCAGGGTGGAAGATG GGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EVC_chr4_5706201_5819305	5706293	T T	TATAGATA others(693): Show TATAGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGA TAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATA CATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATAGATAGATACACAGATAGATACATACATACATAGATA GATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA CACAGATAGATACATAGATAGATACATAGATACATAGATAGATAGATACA TAGATAGATAGATAGATAGATAGATACATACATACATACATACATAGATA CATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATACATAGATAGATAGATACATACATA CATAGATAGATAGATACATACATAGATAGATAGATACATAGATAGATAGA TACATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACATA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0364 a0004c0006t0005g0364	1	369	0.0027	700	c.-50 others(711): Show c.-5088_-5087insATAGATAGATACATAGATAGATAGATAGATACAT AGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAG ATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACAT AGATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAC ATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATAGATAGATACACAGATAGATAC ATACATACATAGATAGATACATAGACAGATAGATAGATACATAGATAGAT AGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATACATACACAGATAGATACATAGATAGATACATAGATACAT AGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATACATAC ATACATACATAGATACATAGATAGATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATACATAGATAG ATAGATACATACATACATAGATAGATAGATACATACATAGATAGATAGAT ACATAGATAGATAGATACATAGATAGATACATAGATACATAGATAGATAG ATAGATAGATACATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4907		chr4	TogoVar
EXOC2_chr6_480154_698139	520376	C C	CCACCGAG others(693): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0224 a0001c0004t0005g0224	1	272	0.0037	700	c.238 others(721): Show c.2380+12092_2380+12093insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(693): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02965.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0112 a0001c0001t0009g0107 a0001c0001t0009g0112	2	272	0.0074	700	c.238 others(721): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(693): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	272	0.0037	700	c.238 others(721): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520620	C C	CACCACCC others(693): Show CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CAACACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAAAAC A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	272	0.0037	700	c.238 others(721): Show c.2380+11848_2380+11849insTGTTTTCGTCTCCGAGTGTGGACG GCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTAGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACG GTGAGTGTCGGCGCTCGGTGGGTGGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(693): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03834.hp1 NA19085.hp2 HG00558.hp1 HG03834.hp1 NA19085.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0186 a0001c0001t0001g0288 a0007c0008t0001g0296 a0001c0001t0001g0186 a0001c0001t0001g0288 a0007c0008t0001g0296	3	334	0.0090	700	c.-10 others(719): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAS6_chr13_113815549_113869076	113817338	C C	CCCCCCTC others(693): Show CCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACATCC CTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCC CCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGGACACATCCCCC CTCCCTCCTCGGGACACATCCCCCCTCCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCCT CCCTCCTCGGGACACATCTCCCCCCTCCCTCCTCGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGG CACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCATGGGACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	143	0.0070	700	c.35 others(711): Show c.3525_*3526insATGTGTCCCATGGAGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGA GGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGG GAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGA GGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGG GGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCCTGGAGGGAGGGGGG ATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGAG ATGTGTCCCGAGGAGGGAGGGGGGGATGTGTCCCCTGGAGGGAGGGGGGA TGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGGAGGGGGGAT GTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCCTGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGT GTCCCGAGGAGGGAGGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTG TCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3210		chr13	TogoVar
GPR173_chrX_53043789_53085615	53073895	T T	TATTTATA others(693): Show TATTTATATATATATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATTTATTTATATATATAAATATATATATTATATTTAT ATATATATATAAATATATATATTTATATATATATATAAATATATATATTT ATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATAT ATAAATATATATATTTATATTTATATTTATATATTTATATTTATATATAT AAATATATATATTTATATTTATTTATATATATAAATATATATATTAATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATTTATGT ATATTTATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATAAATATATATATAAATATATATATTT ATATATAAATATATATATTTATATATATATTTATATATAAATATATATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATAAATATATATATATTTATATTTACAA ATATATATATTTATATATATATTTATATTTATATATATTTATATTTATAT ATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATAT A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0043 a0007c0016t0043	a0007c0016t0043g0177 a0007c0016t0043g0177	1	208	0.0048	700	c.-97 others(717): Show c.-97-2630_-97-2629insATTTATATATATATAAATATATATATTT ATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTATATTTATATATATATATAAATATATATATTTATATA TATATATAAATATATATATTTATATTTATTTATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATATTTATATTTATATTTA TATATTTATATTTATATATATAAATATATATATTTATATTTATTTATATA TATAAATATATATATTAATATATATTTATATATATAAATATATATATTTA TATATAAATATATATTTATGTATATTTATATATAAATATATATATTTATA TATATAAATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATAAATATATATATTTATATATAAATATATATATTTATATATATA TTTATATATAAATATATATATTTATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATTTATATATATAAATA TATATATATTTATATTTACAAATATATATATTTATATATATATTTATATT TATATATATTTATATTTATATATATATATATAAATATATATTTATGTATA TTTATATATAAATATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(693): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATAAA TATATATATTTATATATAAATATATATATTTATATATATATTTATATATA AATATATATATTTATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATTTACAAATATATATATTTA TATATATATTTATATTTATATATATTTATATTTATATATATATATATAAA TATATATTTATGTATATTTATATATAAATATAAATATATATTTATATATA A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	208	0.0048	700	c.-97 others(717): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATATATTT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAA ATATATATATTTATATATATAAATATATATATTTATATTTACAAATATAT ATATTTATATATATATTTATATTTATATATATTTATATTTATATATATAT ATATAAATATATATTTATGTATATTTATATATAAATATAAATATATATTT ATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46616445	C C	CGTGTAGG others(693): Show CGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTCGGTTCCCCCG TGTGTAGGTTCCCCCAAGCGTGTAGGTTCCCCCTTGTGTAGGTTCCCCCG TGTGTGCAGGTTCCCCTGTGTGTGCGGCTTCCCCTGTGCGTGCAGGTTCC CCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTACGTTCC CCTGTGTGTACGTTCCCCTGTGTGTAGGTTCCCCTGTGCGTGTAGGTTCC CCTGTGCGTGTAGGTTCCCCCGTGCGTGTAGGTTCCCCCGTGTGTGCAGG TTCCCCTGTGTGTGTGGCTTCCCCTGTGCGTGCAGGTTCCCCTGTGTGTA GGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTACGTTCCCCTGTGTGTA CGTTCCCCTGTGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTA GGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTATAGGTTCCCCTGTGCGTG TAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCCGTGTG TAGGTTCCCCTGTGCGTGTGGGTTCCCCCGTGTGTAGGTTCCCCTGTGCG TGTGGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTGGGTTCCCCCATG TGTAAGTTCCCCTGTCCGTGTAGGTTCCCCCATGTGTAGGTTCCCCTGTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp2 NA19043.hp1 HG02257.hp1 HG02486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0029 a0001c0001t0011 a0001c0001t0013 a0001c0001t0029	a0001c0001t0011g0057 a0001c0001t0013g0055 a0001c0001t0029g0053 a0001c0001t0011g0057 a0001c0001t0013g0055 a0001c0001t0029g0053	3	328	0.0092	700	c.-41 others(711): Show c.-4170_-4169insGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGC GTGTCGGTTCCCCCGTGTGTAGGTTCCCCCAAGCGTGTAGGTTCCCCCTT GTGTAGGTTCCCCCGTGTGTGCAGGTTCCCCTGTGTGTGCGGCTTCCCCT GTGCGTGCAGGTTCCCCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCC CTGTGTGTACGTTCCCCTGTGTGTACGTTCCCCTGTGTGTAGGTTCCCCT GTGCGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCCGTGCGTGTAGGTTC CCCCGTGTGTGCAGGTTCCCCTGTGTGTGTGGCTTCCCCTGTGCGTGCAG GTTCCCCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTAC GTTCCCCTGTGTGTACGTTCCCCTGTGTGTAGGTTCCCCCGTGTGTAGGT TCCCCTGTGCGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTATAG GTTCCCCTGTGCGTGTAGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGT AGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTGGGTTCCCCCGTGTGT AGGTTCCCCTGTGCGTGTGGGTTCCCCCGTGTGTAGGTTCCCCTGTGCGT GTGGGTTCCCCCATGTGTAAGTTCCCCTGTCCGTGTAGGTTCCCCCATGT GTAGGTTCCCCTGTGT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		3940		chr22	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(693): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCATCACCAACACCATCACCCTCATCACCACCACCACC ACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCACCAC CAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCATCA C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02698.hp1 HG01516.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0005g0077 a0001c0004t0001g0087 a0001c0001t0005g0077 a0001c0004t0001g0087	2	128	0.0156	700	c.116 others(719): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCATCACCAACACCATCACCCTCATCACC ACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCACCAC CAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCATCC CCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(693): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCATCA CCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCATCA CCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACC ACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCACCAC CACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCATCA TCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATCATC ACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCACCAT CATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCATCA CCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACCACC ACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCACCAC CAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCATCA C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp2 NA19030.hp2 HG02965.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0002t0001g0119 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0002t0001g0119	3	128	0.0234	700	c.116 others(719): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCATCA TCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCACAA TCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACC ATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCACCAT CACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCACCA CCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATCATC ACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCACCAC CACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCACCA CCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATCACC ACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCACCAC CAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCATCC CCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(693): Show TCACCACCACCACCATCATCATCATCACCACCACCATCACCACCATCACA CCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACCATC ACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCACCAT CACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCATCA CCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCATCA CCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACC ACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCACCAC CACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCATCA TCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATCATC ACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCACCAT CATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCATCA CCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACCACC ACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCACCAC CAACACCATCATCACCACCACCACCATCACCACCACCATCCCCATCATCA C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0054 a0001c0004t0005g0054	1	128	0.0078	700	c.116 others(719): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCATCACC ACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACCATA ATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCACCAT AATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCATCA TCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCACAA TCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACC ATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCACCAT CACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCACCA CCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATCATC ACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCACCAC CACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCACCA CCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATCACC ACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCACCAC CAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCATCC CCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
HDAC4_chr2_239043168_239406020	239231941	T T	TCGAGGCT others(693): Show TCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCC CGAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGCTCCCGGATG CCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTCTCCTCAACCGAGGCTGC TGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCC CTGTCCTCAACCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAG GCGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTG CTCCCGGATGCCTGAGGTAGGTGTCCTCCCCGAAGCGCCCCTCTCCTCAA TCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCC CGAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGCTCCCGGATG CCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTCTCCTCAACCGAGGCTGC TGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCC CTGTCCTCAACCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAG GCGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTG CTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAA C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0056 a0001c0001t0018g0056	1	242	0.0041	700	c.94+ others(715): Show c.94+4651_94+4652insGTTGAGGACAGGGGCGCTTCGGGGAGGACG CCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGACA GGGGCGCTTCGGGGAGGACGCCTACCTCAGGCATCCGGGAGCAGGTGCTC AGCAGCCTCGGTTGAGGACAGGGGCGCTTCGGGGAGGACGCCTACCTCAG GCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGAGAGGGGCGCTTC GGGGAGGACGCCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCG ATTGAGGAGAGGGGCGCTTCGGGGAGGACACCTACCTCAGGCATCCGGGA GCAGGTGCTCAGCAGCCTCGATTGAGGAGAGGGGCGCTTCGGGGAGGACA CCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGACA GGGGCGCTTCGGGGAGGACGCCTACCTCAGGCATCCGGGAGCAGGTGCTC AGCAGCCTCGGTTGAGGACAGGGGCGCTTCGGGGAGGACGCCTACCTCAG GCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGAGAGGGGCGCTTC GGGGAGGACGCCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCG ATTGAGGAGAGGGGCGCTTCGGGGAGGACACCTACCTCAGGCATCCGGGA GCAGGTGCTCAGCAGCCTCG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(693): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	414	0.0024	700	c.-28 others(711): Show c.-2882_-2881insGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(693): Show TGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	414	0.0024	700	c.-28 others(711): Show c.-2882_-2881insGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HRAS_chr11_527242_540576	530970	G G	GAGAAGGG others(693): Show GAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGCCAGTGTG GCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCC AGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGACAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTG TGGCGTCCCCTGGACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGG CGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCC TGGACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAG TGTGGCGTCCCCTGGACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAG GGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02280.hp1 HG02717.hp1 HG01346.hp2 HG02280.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	3	397	0.0076	700	c.15 others(711): Show c.1557_*1558insGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCT GTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGA CGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCC AGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTT CTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGG GACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTGT CCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCC TTCTCTCCAGGGGACGCCACACTGGCCCTTCTGTCCAGGGGACGCCACAC TCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACG CCACACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1271		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323073	C C	CGTATGGA others(693): Show CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATAT ATATATGGAATATATATATGGAATATATATGTATGGAATATACATATGGA ATATATATGTATGGAATATACATATGGAATATATATGTTTGGAATATATA TATATGGAATATATATGTATGGAATATATATATATGGAATATATGTATGG AATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGT ATGGAATATATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATATGGAATATATGTATATGGAATATATATATG GAATATATGTATATGGAATATATATGGAATATATGTATATGGAATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0224 a0002c0002t0016g0224	1	323	0.0031	700	c.-19 others(711): Show c.-1983_-1982insGTATGGAATATATATATGGAATATATACGTATGG AATATATATATGGAATATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGGA ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATGTATGGAATATATATGTATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATATGGAATATATATATGGAATATATATGTATG GAATATACATATGGAATATATATGTATGGAATATACATATGGAATATATA TGTTTGGAATATATATATATGGAATATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATATATGGAATATATGTATGGA ATATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATA TGGAATATATATATGGAATATATGTATATGGAATATATATGGAATATATG TATATGGAATATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1896		chr21	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(693): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACCACACACACACACACATAC ACCACACACCTCACACACATCACACAGCCCACACACCACACACTGCACAC ACCGCACACACACACCAACATACCACACACCAGAGACACACACGACACAC CACGCACAGACCACACACACCACACACACCACACACACACCCCACACACC ACAAACACCCCACACACTCCACACACTGCACACACCGCACACGCCGCACA TGCCACACACACCACACACCACACACACACCACACTGCACACACTGCACA CACCACACACCCCACATACCACATTCACACACCACACACCACACATACCA CATTCACACACCACACATACCACACACATCACACACACCACACACACCCC AGACACTGCACACACTGTACACACCACACACACCCCACACACCACACACA GTGCACAAACCACACACCACACACACACCACACCACACCCCCCACACATA ACCATACACAGACCACACATACACACACCACACACCACACATACCACACA CACCAGATACACACACACCACATACCACACACACACAAACCACACAACAC ACACACACATACACACCACAAGCACACCACACACACACAAACCACAAACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	380	0.0026	700	c.41 others(711): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGATGTGTGTGGTA TGTGTGGTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGT ATGTGGGGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGT GTGTGGTGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGA GTGTGTGGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTG TGTGTGGTCTGTGCGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGT TGGTGTGTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATG TGTGTGAGGTGTGTGGTGTATGTGTGTGTGTGTGTGGTGTGTGTGGTGTG TGTGGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTGTATGTGTGTGGT GTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(693): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAT ACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	700	c.-29 others(711): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAAC TATATACAGTCATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAAC TATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTA TATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTA TGTATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(693): Show ATATATAGTCACATATGTATATAAAGCTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAT ACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	700	c.-29 others(711): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAGCTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAAC TATATACAGTCATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAAC TATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTA TATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTA TGTATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(693): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCATGACCACACCCACACTTACATCTACCTCCACACCCAC AATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACAC CCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTAC ACCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACAATTACACCCACCCTTACATCTACCTCCACAC CCACAATTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	290	0.0035	700	c.129 others(717): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACAATTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTCACACCCACGCTTACATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCATGACCACACCCACACTTACATCTA CCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACA CCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAATTACACC CACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCTTACA TCTACCTCCACACCCACAATTACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 8931 hits)