Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(620): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCA TCACCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACC ACCATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAAC CACCACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCA CCACCACCACTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	314	0.0032	627	c.-25 others(644): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCATCACCATCACCATCATCACCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCATCACCATCATCAC CGCCGCCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACC ACCACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(620): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	2	376	0.0053	627	c.666 others(644): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(620): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACCACACACACAACACACAACAGACCACACATAC ACACACCACAAACACAACCACACACACCACACCATACACACACACCATAC ACGCACCACACACACACCACATACACACTTCACACACACCACACACCACA CAAATCACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0173 a0001c0007t0001g0173	1	300	0.0033	627	c.203 others(644): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGGTTGTGT GTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGTAT AGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGTTG TGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGTAT GTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGTGT GCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGT GGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGGGT GTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTGTG GTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(620): Show CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCTCCCCCTCCCTCCCTCTCTCTCCCCCTCCTCCCCTCT CTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCTCCCCTCCCCCTCTCTCCCCCCCTCCCCCTCCCCTCCTCCCCTCC CCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCC CCCTCTCCCCTCCCCCTCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCC CCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCCTC ACCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCC TTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTC CCCTGTCTCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0153 a0001c0006t0025g0153	1	158	0.0063	627	c.11 others(648): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCTCCCCCTCCCTCCCTCTCTCTCC CCCTCCTCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCC TCTCCCCTCCCCCTCTCTCTCCCCTCCCCCTCTCTCCCCCCCTCCCCCTC CCCTCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTC CCCCTCCCCTCCCCCCCTCTCCCCTCCCCCTCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCCTCACCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTC TCTCCCCCTCCTTCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCT CTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	707442	A A	AGCTGCAG others(620): Show AGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGAC AGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGT TTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTA ATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCT CCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAG CTTCTCTGCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCT GCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGG TCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGG AGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACA GTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0007 a0006c0041t0007	a0006c0041t0007g0231 a0006c0041t0007g0231	1	254	0.0039	627	c.38- others(642): Show c.38-3212_38-3211insGTCCTGGAGACAGGTCTGGCTGCTGCAGCT TCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGC TGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTC TGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAG ACAGGTCTGGCTGCTGCAGCTTCTCTGCTGTTAATGGAGTTTCAGACATT CCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTC AGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATG GAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCT GTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTT CTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCT GCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCT GGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGA CAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(620): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA CTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18975.hp1 NA18983.hp1 others(1): Show NA18966.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0053 a0001c0001t0003g0002 a0001c0001t0003g0053	4	370	0.0108	627	c.-27 others(638): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(620): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCA CTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA19056.hp2 NA19057.hp1 NA18966.hp2 NA19056.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	3	370	0.0081	627	c.-27 others(638): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(620): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATCTATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAAT TATATTAATAGTATTATAATATATAATATATTATATATAATTATATTATA ACTTATTATATATAATTATATTATAGATCATAATCTATAATATAATTATA TATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAAT ATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	627	c.-32 others(638): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATAGATTATATAATATATAATATAATTATAGAT TATATAATATATAATATAATTATAGATTATATAATATATAATATAATTAT AGATTATATAATATATAATATAATTATATATTATATAATATGTTTAATAT AATTATATATAATATAATTATATTATATATTATATTATAATTATATAATA TATAATATAATTATATATTATATAATTATATTCTATATAGAATATAATTA TATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MPG_chr16_73225_90846	81598	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCT CCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	442	0.0023	627	c.301 others(644): Show c.301-1450_301-1449insGGGAAGGCCTCGTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACACTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTG AATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC TATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCC ACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACT GACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGC CTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81826	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT ACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	442	0.0023	627	c.301 others(644): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTCTTCCCA CCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82140	A A	ATGCTGGC others(620): Show ATGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA TGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	442	0.0023	627	c.301 others(642): Show c.301-912_301-911insTGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGCCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCT CCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCCATGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	82179	C C	CCCTCCTG others(620): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTACC CTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCC TACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	442	0.0023	627	c.301 others(642): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTA CCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCAC GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MROH1_chr8_144143016_144266926	144218790	T T	TGCTCTCC others(620): Show TGCTCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTTCCTCCCCTCCTCTCTTCCCCTCCCTCCTCTTC CTCCCCTCCTCTCCCCTCCTCTCCCCTCCCGTCTCCCCTCCGTCTCCCTC CCTTCTCCCTCCCGTCTCCTCCCTCCCTCCTCCCCTCCTCCCCCTCCTCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCTCCCCTCCTCCCCTCCCTCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCCCC TCTCCTCCCCTCCTCCTCTCCTCTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTC CTCCCCTCCCCTCCCCCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	140	0.0071	627	c.114 others(646): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCTCCCCTC CTCTCTTCCCCTCCCTCCTCTTCCTCCCCTCCTCTCCCCTCCTCTCCCCT CCCGTCTCCCCTCCGTCTCCCTCCCTTCTCCCTCCCGTCTCCTCCCTCCC TCCTCCCCTCCTCCCCCTCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCTCCCCTCCTCC CCTCCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCT CCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCC CCTCCTCCCCTCCTCCCCTCCCCTCTCCTCCCCTCCTCCTCTCCTCTCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCTCCCCTCTCCTC CTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT C	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43			chr8	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(620): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGC GTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGG GGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCC GTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGG TGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGG CGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	388	0.0026	627	c.159 others(644): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTG TGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTG TGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGT GGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGT GTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425004	A A	ATATATAT others(620): Show ATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCA AAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTC AATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATATAT AAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAACCA AAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAATAT ATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTT TATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTT ATATATTTATATAAATATAAATATATAAATATATATAATTATATATATAT TTAGGTCCTCTGGTTTTGGTTATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02559.hp1 others(2): Show HG02109.hp2 HG02486.hp1 HG02559.hp1 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0205 a0001c0002t0008g0206 a0001c0002t0008g0207 others(2): Show a0001c0002t0008g0205 a0001c0002t0008g0206 a0001c0002t0008g0207 a0001c0002t0008g0309 a0001c0002t0008g0310	5	312	0.0160	627	c.293 others(646): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGA GGACCTAAATATATATATATAAATATATAAATATATAAATATATATATAT AATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATA TATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTT ATATAAATATAAATATATAAATATATATAATTATATATATATTTAGGTCC TCTGGTTTTGGTTATATGTGTATATATATATTTAGGTCCTCTGGTTTTGG T	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEU4_chr2_241804193_241822413	241820036	C C	CGTGTGTC others(620): Show CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTG TGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCC GTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTC GTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTC CTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGC GTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCT GTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGT GCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAG GTCGTGTGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(34): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0017 a0008c0014 a0001c0001 a0005c0017 a0008c0014	a0001c0001t0003 a0005c0017t0003 a0008c0014t0003 a0001c0001t0003 a0005c0017t0003 a0008c0014t0003	a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0043 others(30): Show a0001c0001t0003g0010 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0081 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0151 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0196 a0005c0017t0003g0091 a0008c0014t0003g0193	37	319	0.1160	627	c.29 others(638): Show c.2988_*2989insGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGT GTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGC TGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCT CGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGT CCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATG CGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCC TCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTG TGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCC GTGTGCTGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTC GTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar
NEU4_chr2_241804193_241822413	241820036	C C	CGTGTGTC others(620): Show CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTG TGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCC GTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTC GTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTC CTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGC GTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCT GTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGGTTCATGGCCCGTGTGCTGGGTGTGT GCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAG GTCGTGTGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	319	0.0031	627	c.29 others(638): Show c.2988_*2989insGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGT GTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGC TGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCT CGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGT CCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATG CGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCC TCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGCCTCATGGTGTGTGTGTAGGTTGTG TGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGTTCATGGCCC GTGTGCTGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTC GTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(620): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGA GGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG CGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGG TGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18995.hp2 NA18983.hp1 NA18995.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0041 a0002c0002 a0012c0041	a0002c0002t0002 a0012c0041t0006 a0002c0002t0002 a0012c0041t0006	a0002c0002t0002g0061 a0012c0041t0006g0102 a0002c0002t0002g0061 a0012c0041t0006g0102	2	322	0.0062	627	c.278 others(648): Show c.2782+18803_2782+18804insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGA AGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTTGGG TGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGC CCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGC TGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAG GTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTG GGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTG CTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(620): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATG TATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACTATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATG TATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0092 a0001c0001t0007g0092	1	362	0.0028	627	c.-75 others(646): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTA TACATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTA TACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATAC A	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPRL3_chr16_80386_143673	81598	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCT CCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCGTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	350	0.0029	627	c.51 others(638): Show c.5106_*5107insGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCACGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGG GGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCTGGAGATAGGGTGGTGGG AAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCACGAGGCCTTCCCGGA GATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCT TCCTGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGTG TGGGGAGCATTCAGGAGGCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCACGAGGCCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3787		chr16	TogoVar
NPRL3_chr16_80386_143673	81826	T T	TCTCCGGG others(620): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCGTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCC ACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT ACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA CGCTGGCCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	350	0.0029	627	c.48 others(638): Show c.4878_*4879insGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGTATTCAG GAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAG CATTCAGGAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGTATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GCCAGCGTGGGGAGCATTCACGAGGCCTTCCCGGAGATAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3559		chr16	TogoVar
NPRL3_chr16_80386_143673	82140	A A	ATGCTGGC others(620): Show ATGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCA TGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0148 a0007c0012t0002g0148	1	350	0.0029	627	c.45 others(638): Show c.4564_*4565insCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGG GTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAGCATTCAGGAGGCC TTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCA GGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCATGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGGCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3245		chr16	TogoVar
NPRL3_chr16_80386_143673	82179	C C	CCCTCCTG others(620): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACTACC CTACCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACTACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCC TACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	350	0.0029	627	c.45 others(638): Show c.4525_*4526insCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGT CAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAG AAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGT AGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCC CGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAG GGCTTCCCGGAGGTAGGGTAGTGGGAAGAAGGGGTCAGCGCGGGGAGCAT TCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGG GGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTC AGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGA AGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTAGT GGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3206		chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(620): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01258.hp1 others(9): Show HG00140.hp1 HG01256.hp1 HG01258.hp1 HG02135.hp1 HG02615.hp2 HG04199.hp1 NA18747.hp1 NA18948.hp1 NA19068.hp1 NA19085.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0149 a0001c0001t0002g0083 a0001c0001t0003g0063 a0001c0001t0003g0065	12	155	0.0774	627	c.155 others(646): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC C	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(620): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	155	0.0065	627	c.155 others(646): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC C	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(620): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGG GCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGCCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGCCTCGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0322 a0001c0001t0006g0322	1	358	0.0028	627	c.143 others(642): Show c.143-220_143-219insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGCCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGCCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(620): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCT CCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCT CTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCC TCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCC CTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTC CCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCT TCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTC CCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCC CTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCT TCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03834.hp2 HG03139.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0158 a0001c0001t0007g0054 a0001c0001t0001g0158 a0001c0001t0007g0054	2	210	0.0095	627	c.439 others(646): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCC CTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTC CCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTC CCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTC T	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(620): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCC TCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTT TCCCCCCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCC TTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTC TCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCC CCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCTTCCTCTTTCTCTCCCT CTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCC TCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTC CCCCTCCTTCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0010 a0003c0005t0009g0010	1	210	0.0048	627	c.439 others(646): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCC TCCCTCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTC CTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCC TCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTC TCTCTCCCCCTTCCTCTCTCCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTC CTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCT CCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCT C	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(620): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGATCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	286	0.0035	627	c.335 others(646): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC ATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTG T	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(620): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	627	c.23 others(638): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(620): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGC CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	252	0.0040	627	c.139 others(646): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCCGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(620): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	252	0.0040	627	c.139 others(646): Show c.139-18614_139-18613insGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGGGCAGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(620): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGGTGATGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTG ATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATG GTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0057 a0003c0005t0001g0057	1	374	0.0027	627	c.-46 others(638): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGATGGTGGTGGT GGTGATGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGG TGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATG ATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATA ATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTG ATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
SHANK1_chr19_50654255_50724802	50678957	G G	GTGGGGAG others(620): Show GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT AAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTG TGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02486.hp2 others(1): Show HG01891.hp1 HG02451.hp2 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 others(1): Show a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 a0001c0014t0008	a0001c0004t0008g0062 a0001c0004t0010g0058 a0001c0004t0011g0048 others(1): Show a0001c0004t0008g0062 a0001c0004t0010g0058 a0001c0004t0011g0048 a0001c0014t0008g0230	4	316	0.0127	627	c.257 others(646): Show c.2578-6844_2578-6843insACCCTGACCCCTCCCCATCACCCTGA CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC A	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(620): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCACCTCCACCTCCACCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTC CACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0153 a0004c0010t0002g0153	1	160	0.0063	627	c.688 others(644): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCACCTCCACCTCCACCTCCACCTCCACCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTC CACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC45A1_chr1_8313114_8349165	8322292	A A	ATGGGCGG others(620): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGAGTGG GTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATGGGTGGGTG GGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGG TGGATGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0318 a0002c0004t0001g0318	1	388	0.0026	627	c.-24 others(644): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGG TGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTG GGTGGATGGGTGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(620): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGGAGAGGGGAGAGG AGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	627	c.12 others(638): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCC TCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGC CCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCC CTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNTG2_chr2_945849_1372613	1168166	T T	TGGCAGAA others(620): Show TGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACG GCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC AAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACA GGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAA GCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAGCCTACAGGCCGCCCACAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0019 a0005c0006t0001g0019	1	190	0.0053	627	c.499 others(644): Show c.499+2614_499+2615insGAAGCCGCCCACAGACGGCAGAACTGAA GCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCAC AGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAA CCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACA GACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAG ACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACC TACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGA CGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGGCCGCCCACAGAC GGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168166	T T	TGGCAGAA others(620): Show TGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACG GCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC AAGCCGCCCACAGATGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGG CAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACA GGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAA GCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAACCTACAGGCCGCCCACAGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0184 a0003c0007t0001g0184	1	190	0.0053	627	c.499 others(644): Show c.499+2614_499+2615insGAAGCCGCCCACAGACGGCAGAACTGAA GCCTACAAGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCAC AGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAA CCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACA GATGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGC CTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAG ACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACC TACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGA CGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCT ACAGGCCGCCCACAGATGGCAGAACTGAAACCTACAGGCCGCCCACAGAC GGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTA CAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(620): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	322	0.0031	627	c.597 others(644): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(620): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0348 a0001c0001t0003g0348	1	364	0.0028	627	c.157 others(646): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCT CCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCG TTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(620): Show TATAATATACCTATTATATGCATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATAATATATTATATAT AATATGCATATTATATGTATTATATATTATATATTATATATATAATATAC ATATTATATGTATTATATATTATATATAATATACATATTATATATTATAT ATTATATACATATTATATATTATATATTATATACATATTATATATTATAT ACATATTATATATTATATATTATATACATATTATACATTATATATATCTA AAATATATAATACACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATTATATATAATACACATTATATATTATATATAA TACACATTATATATTATATATAATACACATTATATATTATATAATACACA TTATATATTATATATAATACACATTATATATTATATATAATACACATTAT ATATTATATAATGCACATTATATATTATATATAATACACATTATATATAT AATACACATTATATATTATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0120 a0001c0008t0008g0120	1	360	0.0028	627	c.62 others(638): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGCATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATAATATATAATGTGTATTATATATTTTAGATA TATATAATGTATAATATGTATATAATATATAATATATAATATGTATATAA TATATAATATGTATATAATATATAATATATAATATGTATATAATATATAA TATATAATATGTATATTATATATAATATATAATACATATAATATGTATAT TATATATATAATATATAATATATAATACATATAATATGCATATTATATAT AATATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(620): Show CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCC AGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTGTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGC CCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCT GTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0220 a0001c0001t0058g0220	1	370	0.0027	627	c.-13 others(638): Show c.-1314_-1313insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC ACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCACC others(620): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0290 a0002c0002t0003g0290	1	370	0.0027	627	c.-15 others(638): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACGGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTCGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCAG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	434	0.0023	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGACC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGTCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(68): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18957.hp2 NA18970.hp2 NA18985.hp1 NA19030.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0002t0002g0055	71	434	0.1636	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	434	0.0023	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCAACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(620): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCTGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	627	c.-27 others(638): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCAGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar

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Search Results (Total: 10000 hits)