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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(820): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCAC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	223	0.0045	827	c.-42 others(838): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(820): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGTGATGGT GATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGATGGTGAT GATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGGTGATGG TGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATGAGGATG ATGATGGTGATGGTGATGATAAGGATGATGATGATGATGAGGATGATGGT GGTGATGATGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGA TGATGGTGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATG GTGATGATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGT GATGATGGTGATGATGATGGTGATTATGATGATGGTGATGATGGTGATGA TGATGGTGATGATGATGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG03139.hp1 others(1): Show HG02818.hp1 HG03041.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0025 a0001c0001t0004g0026 a0001c0001t0009g0012 others(1): Show a0001c0001t0001g0025 a0001c0001t0004g0026 a0001c0001t0009g0012 a0001c0001t0009g0013	4	320	0.0125	827	c.937 others(842): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGATGATGGTGATGATGATGGTGATGAT GATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATG ATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGAT GATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGATGGTGA TGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTG ATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATGAT GATGATGAGGATGATGGTGGTGATGATGATGGTGATGACGATGATGGTGA TGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGACGATG ATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTGATGATGAT GGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATTATGATGA TGGTGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG3_chr13_45459939_45541701	45485414	C C	CCCCCCCA others(820): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGCTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCGACCTCCCTCCCGGAC GGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0148 a0002c0005t0012g0148	1	342	0.0029	827	c.844 others(844): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCTC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG CTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCGACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCAC GGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCGCCCCCCACCTCCCTCCCGGACGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(820): Show CCGTGTCACCCACAGAAACACGGCCCCCCGTGTTACCCACAGATACACGG CCCCCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGA TACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	348	0.0029	827	c.927 others(842): Show c.927+698_927+699insAACACGGCCCCCCGTGTTACCCACAGATAC ACGGCCCCCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DLEC1_chr3_38034208_38129025	38084560	A A	AGTAGTGG others(820): Show AGTAGTGGGGGGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGT AGTGGTGGTGGTAGTGGTGGTGGTAGTAGTAGTGGTGGTAGTAGTGGTGG TAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTG GTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGT GGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAG TAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTG GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGT AGTGGTGGTGGTAGTAGTAGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAA TAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTA GTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTAGTAGTGGTAGTAGTAGT GGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAG TAGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTGGTAGTAGTA GTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTAGTAGTGGTAATAGTGGT GGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGG TGGTGGTAGTAGTAGTGGTTGTGGTAGTAGTGGTAGTAGTGGTGGTGGTG GTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT AGTAGCAGTGATAGTAATAGTAGTGGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0007 a0001c0014t0005g0007	2	298	0.0067	827	c.126 others(844): Show c.1261+317_1261+318insAGTGGGGGGGTGGTAGTAGTGGTAGTAG TAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTA GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGT AGTAGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTA GTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGG TAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTAGTGGTGGTAGTA GTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGT GGTAGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGG TAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTAGT GGTTGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGG TAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTA GTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTAGTAGT GGTAGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGG TGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTGGTGGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(820): Show CCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCACCACCCCCAACACCACCCCAACACCAGCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCCACCACCCCCAACACCA CCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAGCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCAGCCCCAACACCACCCCCAACACCACCCC AACACCACCCCAACACCACCCCCAACACCACCCCCACACCACCCCCACAC CACCCCCACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCAC CCCCACACTGCCCCCACACCACCCCCAACACCAGCCCCAACACCACCCCA ATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCACACC ACCCCCAACACCACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	106	0.0094	827	c.28 others(838): Show c.2827_*2828insCCAACACCATCCCCAACACCACCCCCAACACCAT CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCAG CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA CCACCCCCAACACCACCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCAGCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCAACACCACCCCCAACACCAGCCCCAACACCAC CCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCC ACACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCCCCACAC CACCCCCAACACCACCCCCACACTGCCCCCACACCACCCCCAACACCAGC CCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAAC ACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(820): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGATGGATGGATGGATTGGTTGGTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	376	0.0027	827	c.666 others(844): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCACCAACCAATCCATCCATCCATCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33323165	A A	ATATATAT others(820): Show ATATATATATGTGGAATATATATGTGGAATATACATATGGAATATATATG TGGAATATATATATATGGAATATGTATATATGGAATATATATATATGGAA TATATATACATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATATACATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATACATGGAATATATATACATGGAATATATACATGGAATGTA TACATGGAATATATATACATGGAATGTATACATGGAATATATATACATGG AATGTATACATGGAATATATATATGGAATGTATACATATGGAATATATAT ATATGGAATGTATACATATGGAATATATATATGGAATGTATACATATGGA ATATATATATGGAATGTATACATATGGAATATATATATGGAATGTATACA TATGGAATATATATATGGAATGTATATATATGGAATATATATATGGAATG TATATATATGGAATGTATATATGGAATGTATATATATGGAATGTATATAT ATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	323	0.0031	827	c.-18 others(838): Show c.-1891_-1890insTATATATATGTGGAATATATATGTGGAATATACA TATGGAATATATATGTGGAATATATATATATGGAATATGTATATATGGAA TATATATATATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATATACATGGAATATATATACATGGAA TATATATACATGGAATATATATACATGGAATATATATACATGGAATATAT ATACATGGAATATATATACATGGAATATATATACATGGAATATATATACA TGGAATATATATACATGGAATATATACATGGAATATATATACATGGAATA TATACATGGAATGTATACATGGAATATATATACATGGAATGTATACATGG AATATATATACATGGAATGTATACATGGAATATATATATGGAATGTATAC ATATGGAATATATATATATGGAATGTATACATATGGAATATATATATGGA ATGTATACATATGGAATATATATATGGAATGTATACATATGGAATATATA TATGGAATGTATACATATGGAATATATATATGGAATGTATATATATGGAA TATATATATGGAATGTATATATATGGAATGTATATATGGAATGTATATAT ATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATATGGAATGTATATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1804		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(820): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0044 a0009c0011t0003g0044	1	334	0.0030	827	c.369 others(844): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(820): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGTGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTT CGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0136 a0001c0006t0002g0136	1	282	0.0036	827	c.623 others(844): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGTGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR6_chr1_202188799_202324761	202205249	C C	CACACACA others(820): Show CACACACACACCTCCAAACACACACACACCTAGCACACACTCCTCCACAC ACACACACACCTAACACACACCTCCTTCAAACGCACACACACCTCCAAAC ACACATGCACCTCCAAACACACACACACACCTCCAAACACACATACACCT CCAAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAA ACACACACACACCTAACACACACACCCCTCCTTCAAACACACACACACCT CCAAACACACACACACACCTCCAAACACACACACACACCTAACACACACC TCCTCCAAACACACACACACCTCCAAACACACACACACCTAACACACACC TCCTCCAAACACACACACCTCCAAACACACACACCTCCAAACACACACAC ACCTAACACACACACCTAACACACACCTCCTTCAAACACACACACACCTC CAAAGACACACACACACCTATCACACCTTCAAACACACACACACACCTAA CACAGACCTCCAAACACACACACACCTCCAAACACACACACACCTAACAC ACACACACCTATCACACACCTCCTTCAAACACACACACCTAACACACCCG TCCTTCAAACACACACACACACCACACACATCTAACACCTCCTTCAGACA CACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACAC ACCTCCACACACACACCTAACACACACCTCCTTCAAACACACACACCTCC AAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAAC ACACACACCTAACACACACCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(24): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG02451.hp2 HG02615.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03654.hp2 NA18944.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18980.hp1 NA18982.hp1 NA18998.hp1 NA19007.hp2 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0004c0003 a0014c0022	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 others(5): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0006t0003 a0004c0003t0002 a0004c0003t0003 a0014c0022t0003	a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0067 others(24): Show a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0080 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0003g0015 a0002c0002t0003g0061 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0069 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0006g0086 a0002c0006t0003g0083 a0002c0006t0003g0090 a0004c0003t0002g0111 a0004c0003t0003g0066 a0004c0003t0003g0079 a0004c0003t0003g0082 a0014c0022t0003g0059	27	262	0.1031	827	c.212 others(846): Show c.212+11058_212+11059insCTCCAAACACACACACACCTAGCACA CACTCCTCCACACACACACACACCTAACACACACCTCCTTCAAACGCACA CACACCTCCAAACACACATGCACCTCCAAACACACACACACACCTCCAAA CACACATACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACA CACACACCTCCAAACACACACACACCTAACACACACACCCCTCCTTCAAA CACACACACACCTCCAAACACACACACACACCTCCAAACACACACACACA CCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACCTCCAAACACACACACCTC CAAACACACACACACCTAACACACACACCTAACACACACCTCCTTCAAAC ACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAACACA CACACACACCTAACACAGACCTCCAAACACACACACACCTCCAAACACAC ACACACCTAACACACACACACCTATCACACACCTCCTTCAAACACACACA CCTAACACACCCGTCCTTCAAACACACACACACACCACACACATCTAACA CCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTT CAAACACACACACACCTCCACACACACACCTAACACACACCTCCTTCAAA CACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACA CACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACA C	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202205249	C C	CACACACA others(820): Show CACACACACACCTCCAAACACACACACACCTAGCACACACTCCTCCACAC ACACACACACCTAACACACACCTCCTTCAAACGCACACACACCTCCAAAC ACACATGCACCTCCAAACACACACACACACCTCCAAACACACATACACCT CCAAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAA ACACACACACATCTAACACACACACCCCTCCTTCAAACACACACACACCT CCAAACACACACACACACCTCCAAACACACACACACACCTAACACACACC TCCTCCAAACACACACACACCTCCAAACACACACACACCTAACACACACC TCCTCCAAACACACACACCTCCAAACACACACACACCTCCAAACACACAC ACACCTAACACACACACCTAACACACACCTCCTTCAAACACACACACACC TCCAAAGACACACACACACCTATCACACCTTCAAACACACACACACCTAA CACAGACCTCCAAACACACACACACCTCCAAACACACACACACCTAACAC ACACACACCTATCACACACCTCCTTCAAACACACACACCTAACACACCCG TCCTTCAAACACACACACACACCACACACATCTAACACCTCCTTCAGACA CACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACAC ACCTCCACACACACACCTAACACACACCTCCTTCAAACACACACACCTCC AAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAAC ACACACACCTAACACACACCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0002 a0010 a0002 a0010	a0002c0032 a0010c0017 a0002c0032 a0010c0017	a0002c0032t0002 a0010c0017t0002 a0002c0032t0002 a0010c0017t0002	a0002c0032t0002g0261 a0010c0017t0002g0166 a0002c0032t0002g0261 a0010c0017t0002g0166	2	262	0.0076	827	c.212 others(846): Show c.212+11058_212+11059insCTCCAAACACACACACACCTAGCACA CACTCCTCCACACACACACACACCTAACACACACCTCCTTCAAACGCACA CACACCTCCAAACACACATGCACCTCCAAACACACACACACACCTCCAAA CACACATACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACA CACACACCTCCAAACACACACACATCTAACACACACACCCCTCCTTCAAA CACACACACACCTCCAAACACACACACACACCTCCAAACACACACACACA CCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACA CCTAACACACACCTCCTCCAAACACACACACCTCCAAACACACACACACC TCCAAACACACACACACCTAACACACACACCTAACACACACCTCCTTCAA ACACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAACA CACACACACCTAACACAGACCTCCAAACACACACACACCTCCAAACACAC ACACACCTAACACACACACACCTATCACACACCTCCTTCAAACACACACA CCTAACACACCCGTCCTTCAAACACACACACACACCACACACATCTAACA CCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTT CAAACACACACACACCTCCACACACACACCTAACACACACCTCCTTCAAA CACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACA CACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACA C	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(820): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATATATTTTTATATATATT TATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATA TTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATTTATATATATAGTTATATATTTATATATATTTATATATATT TATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATA TATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATA TATATATATATAAATATATTTATATATATAAATATAAATATTTATATATA TTTATATATATTTATATATATATTTATGTATATTTATATATATTTATATA TATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	260	0.0039	827	c.125 others(844): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATT TATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGT TATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTA TATATATTTATATATATTTATATATATATTTATATATTTATTTATATATA TTTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATA TATTTATATATATTTATATATATATATATAAATATATTTATATATATAAA TATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATA TTTATATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(820): Show ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATATTTTTATATATATT TATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATA TTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATTTATATATATAGTTATATATTTATATATATTTATATATATT TATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATA TATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATA TATATATATATAAATATATTTATATATATAAATATAAATATTTATATATA TTTATATATATTTATATATATATTTATGTATATTTATATATATTTATATA TATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	260	0.0039	827	c.125 others(844): Show c.125+9673_125+9674insTTATATATATTTATATATATATTTATAT ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATT TATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGT TATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTA TATATATTTATATATATTTATATATATATTTATATATTTATTTATATATA TTTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATA TATTTATATATATTTATATATATATATATAAATATATTTATATATATAAA TATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATA TTTATATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(820): Show CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACCACACCCATGACCACACCCACACTTACA TCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACGCTTACACCCA CGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACC CACACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTA CCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACA CTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCA CACTCACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CACTTACATCTACCTCCACACCCACACTCACACCCACACTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTA CCTCCACACCCACGCTTACACCCACACTTACATCTACCTCCACACCCGCG CTTACACCCACGCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	290	0.0035	827	c.129 others(846): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACCACACCCA TGACCACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACG CTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTA CACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACT TACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACACTTA CATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACT TACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCA CACCCGCACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCA CACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACACTTACATCTACCTCCACACCCACGCTTACACCCACACTTA CATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACA C	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(820): Show AAGGGGGGAAGGGGGGAAGGAGGGGAAGGAGGGGGAAGGAGGGGGAAGGA GGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGAA AAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTG GGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGAGGGGAAGGGGGGAAGGGAGAAAGGGGTGAGGGGAGGATGGAGG GGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGAGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGG GATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGG AGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGG GGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	272	0.0037	827	c.250 others(842): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCTCTCCCCCT CCCTCTCTTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCATCCTCCCCTCACCCCTTTCTCCCTTCCCCCCTTCCCCTCACCCCTT TCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCA CCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(820): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGAGGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGG AGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGAGGGGAGGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGG AGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGG GGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	272	0.0037	827	c.250 others(842): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCC CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCATCCTCCCCTCA CCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTT CCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(820): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGG GGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGG GGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGG GAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGG AAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGA AAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGA GGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGG AGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGG GGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	272	0.0037	827	c.250 others(842): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTC CCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCC CCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCC CCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCC TCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	394	0.0025	827	c.-8+ others(840): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	394	0.0025	827	c.-8+ others(840): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGG GTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	394	0.0025	827	c.-8+ others(840): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGG TAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGG GTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(820): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATAAATAAGATTT TATATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTA TATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0277 a0004c0005t0008g0277	1	330	0.0030	827	c.-5+ others(842): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATA TATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATA AAATATATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTA AGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATATAAAAT ATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTTA others(820): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAA TCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTAT ATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATA AAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATAT ATATTTTATATATATAAAATAAGATTTTATATATATATAAAATAAGATTT TATATATATTTTATATATATAAAATAAGATTTTATATATATATATAAAAT AAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0173 a0001c0001t0028g0173	1	330	0.0030	827	c.-5+ others(842): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATAT AAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATT TTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(820): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGG ATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCA GGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	324	0.0031	827	c.140 others(844): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATT GCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(820): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACACACACCATACACCACACACACACCACACACTACACACCACA CCCACCCACGCATACCACACATATCCCCTTACATACCACACACATCCCCT ACACACACGCCACATACACACACCATACACATCCCCCACAGACACACATA CCCCTACATACCACACACATCCCCTACACACATGCCATACACACACCATA CACATCCCCCACAGACACACATACACACCACACACATACACAAACACTGC ACACATACACACCCCACACATACAACACACACGACACACCACACACATAC ACAAACACTGCACACATACACACCCCACACATACAACACACACGACACAC CACACAACCATACAGACACAAACACATACACCACACACACCACATACACA ACAAACATGCCACACACAAATACCACACACACCACATACACACACCCCCC ATTCACCACACACCACATACACACCATTCACACTACACATACACTCCACA CACACACCACATACACACCATACACACCACACATATCTCCACACACACAC CACATACATACACATCCCATCCACACACACCACACACCCACACACACACT CCAAACTCCACACACACTCCAAACACCACACAAATACACCTACACACACA TCACACACCCACACCACACACACACCACACAAACATGCCACACACATACC CCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG01255.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	2	316	0.0063	827	c.201 others(844): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGT TGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTG GTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTGT GTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGT GCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTG TATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGG TATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGT AGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGG TGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTATGTGT GGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTGTG TGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PAK2_chr3_196734857_196837647	196811273	C C	CCTTCCTT others(820): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCCTCCCTTGCTTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCT TCCTTCCCTCCCTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	178	0.0056	827	c.773 others(842): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTC CTTCCCTCCCTTGCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCT TCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTT CCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109954658	T T	TAAAAAAA others(820): Show TAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGTAGTGTGGAGATGCCC CTGAGACTGGAGACAAAAAGATTTAGATAATGAGGTTATTTATGCAAGAA AGACCCAATGGCACCAGTTCTTATTTTGCACCTTTACCTACTCAAGCAAA TGCTCTGTTAATTATACCACCCCCTGGAGGCTGGGAGGCATCTCTGCAGC GCTTCCTTACCAAAGGAGAAGCGGAGGGTAAAATCACTTTGTTTTCTTAT CTGTTCATCAGGAGTCCTGTTGTTCTATTTGACAGTTTTTCCTTCACCAT TCATAAAAAGGATTAACAAAATTGCCCAAAACAACTCTATAAAGTCTAGG AGTGGCACGTCAGTCTCTGAAAAAGCAAAGGGGGTTTTGTTATTGTTGCT GATGATGGTATTGTTACTATTTCACCACTGTCATAACAGCAAAGAGGAAC AGCTGCCCTATGGTGTTATGCAAATGCCTTTTGATCTAGGCTATATCATC CTTGTGCAGCTATTAATAGACCACATCATCTCCCCAGCAGCCCCCAAGCC CTAGCTTCTGTCCTGCTTTTCTCAAACAGTATTAAATCTTGCATTTTATC AACAGCACAAAAAAGCAAAGATTTGCTATTTAGAAGTGGACACAGGAAGG GGAATATCACACTCTGGGGACTGTAGTGGGGTGGGGGGAGGGGGGAGGGA TAGCATTGGGAGATATACCTAATGCTAGATGACGCGTTAGTGGGTGCAGC GCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAAAGTATAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	222	0.0045	827	c.496 others(846): Show c.496+22656_496+22657insAAGAAAGTAGTGTGGAGATGCCCCTG AGACTGGAGACAAAAAGATTTAGATAATGAGGTTATTTATGCAAGAAAGA CCCAATGGCACCAGTTCTTATTTTGCACCTTTACCTACTCAAGCAAATGC TCTGTTAATTATACCACCCCCTGGAGGCTGGGAGGCATCTCTGCAGCGCT TCCTTACCAAAGGAGAAGCGGAGGGTAAAATCACTTTGTTTTCTTATCTG TTCATCAGGAGTCCTGTTGTTCTATTTGACAGTTTTTCCTTCACCATTCA TAAAAAGGATTAACAAAATTGCCCAAAACAACTCTATAAAGTCTAGGAGT GGCACGTCAGTCTCTGAAAAAGCAAAGGGGGTTTTGTTATTGTTGCTGAT GATGGTATTGTTACTATTTCACCACTGTCATAACAGCAAAGAGGAACAGC TGCCCTATGGTGTTATGCAAATGCCTTTTGATCTAGGCTATATCATCCTT GTGCAGCTATTAATAGACCACATCATCTCCCCAGCAGCCCCCAAGCCCTA GCTTCTGTCCTGCTTTTCTCAAACAGTATTAAATCTTGCATTTTATCAAC AGCACAAAAAAGCAAAGATTTGCTATTTAGAAGTGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTAGTGGGGTGGGGGGAGGGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACGCGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAGA A	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(820): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18994.hp1 NA19065.hp1 NA18943.hp2 NA18994.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0050 a0001c0002t0001g0006 a0001c0002t0001g0050	3	360	0.0083	827	c.35 others(838): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCC ATCTTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	376	0.0027	827	c.15 others(838): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	827	c.15 others(838): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(820): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	376	0.0027	827	c.15 others(838): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PLCXD1_chrX_276381_308356	298246	T T	TCTGTCCC others(820): Show TCTGTCCCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTG TCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGT CTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTC TATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCT CCCACATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTAC CTCATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACC TCATGGGGATTAGGATGTGGACATCTTTGGGGACATTATTCTATCACATG GGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGG GGATTAGGATGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGG GATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGG ATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGA TTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGAT TAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATTGGGATT AGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGCCATTATC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0006 a0011c0016t0006	a0011c0016t0006g0076 a0011c0016t0006g0076	1	176	0.0057	827	c.734 others(842): Show c.734-846_734-845insCCCCACATGGGGATTAGGACGTGGACATCT TTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTG GGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGG GGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGG GACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGG ACATTATTCTGTCTCCCACATGGGATTAGGACGTGGACATCTTTGGGGCC ATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTACCTCATGGGGATTAGGATGTGGACATCTTTGGGGACAT TATTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTACCTCATGGGGATTAGGATGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGT CTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTC TATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCT ATCACATTGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTA TCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(820): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCACCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACA CACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCACACA CACCACCCTCCACACACACCACCCTCCACACACACCACGCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACCACCC TCCACACACACCACCCTCCACACACCGCCCTCCACACACACCACCCTCCA CACACCGCCCTCCACACACACCATGCTCCACACACACCGCCCTCCACACA CACCGCCCTCCACACACACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	252	0.0040	827	c.114 others(846): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGA GGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTG TGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTG GAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGT GTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGT GTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGT GGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGG ATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGT G	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(820): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCAC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	227	0.0044	827	c.23 others(838): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(820): Show GGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0025 a0002c0003t0015g0025	1	252	0.0040	827	c.139 others(846): Show c.139-18616_139-18615insAGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG C	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(820): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0026 a0002c0003t0027g0026	1	252	0.0040	827	c.139 others(846): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGA GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RBFOX3_chr17_79084345_79616051	79483437	G G	GGCCTCCC others(820): Show GGCCTCCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCCTC CCTGCCTGCCTCCCTCCCTCCCTCCTTGCCTGCCTCCCTCCCTCCCTGCC TGCCTGCATCCCTCCCTCCTTCCCTCCCTGCCTGCCTGCCTACCTGCCTC CCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCG TCCCTCCCTGCCTGTCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTG CCTGCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCC TGCCTGCCTCCCTCCCTGCCTCCCTCCCTTCCTGCCTTCCTCCCTCCCTG CCTGCCTGCCTCCCTCCCTCCTTCCTTGCCTCCCTCCCTCCCTCCCTGCC TGCCTGCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCCTG CCTGCCTACCTGCCTGCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCC TCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGTCTCCCTC CCTCCCTGCCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCC TCCCTCCCTGCCTGCCTCCCTCCCTTCCTGCCTGCCTCCCTCCCTCCTTC CCCACCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCTTCCTTGCCTCCCGCC CTCCCTCCCTGCCTGCCTGCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCT CCCTCCCTCCCTCCCTGCCTGCCTGCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 HG03579.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0023g0127 a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0023g0127	3	154	0.0195	827	c.-31 others(844): Show c.-319-840_-319-839insAGGCAGGCAGGCAGGGAGGGAGGGAGGG AGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGCAGGCAGGGAGGGAG GGCGGGAGGCAAGGAAGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGG AGGGAGGCAGGGAGGGAGGGAGGGAGGCAGGAGGGAGGGAGGGAGGTGGG GAAGGAGGGAGGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGA GGCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGG GAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGA GGCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGCAGGTAGGCAGG CAGGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGCA GGCAGGGAGGGAGGGAGGGAGGCAAGGAAGGAGGGAGGGAGGCAGGCAGG CAGGGAGGGAGGAAGGCAGGAAGGGAGGGAGGCAGGGAGGGAGGCAGGCA GGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGCAGG CAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGACAGGCAGGGAGGGA CGGAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGG GAGGCAGGTAGGCAGGCAGGCAGGGAGGGAAGGAGGGAGGGATGCAGGCA GGCAGGGAGGGAGGGAGGCAGGCAAGGAGGGAGGGAGGGAGGCAGGCAGG GAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGGGAGGGAGGC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(820): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19009.hp2 NA18981.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0213 a0001c0001t0004g0212 a0001c0001t0001g0213 a0001c0001t0004g0212	2	304	0.0066	827	c.66+ others(842): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(820): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	304	0.0033	827	c.66+ others(842): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(820): Show GGAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGC TAGGACACTGTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGA GGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAAC AGGAGGAGGAGGAGGAAGAGGAAGAACAGAGGACGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCA GGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAAAGGAGGAGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGAGGAGGAACAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTG TGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGA AGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGACAGGAGGAGG AGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCA CAGGAGGAGGAGGAGGAAGCACAGAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	203	0.0049	827	c.-12 others(846): Show c.-127+9348_-127+9349insTCCTCTGTGCTTCCTCCTCCTCCTCC TGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTC CTCCTCCTCCTGTCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCT CTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCC CACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTGTTCCTCCTCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCTCCTCCTTTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCC CCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCGTCCTCTGTTCTTCCTCTTCCTCCTCCTCCTC CTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCC TAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT C	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339615	C C	CCCCTACT others(820): Show CCCCTACTCTCCTTACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCC CCACTCTCCTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCTA CTCTCCTCATTCTACCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCT CCTCATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTC ATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTC TATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA CCCCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCCCCAC AAGCACTGCTCCAGCCCTCCCCCACTCTCCTCACTCTATGCCCCCACAAG CATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATA GCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCCACAAGCAC TGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGC TCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCC AGCCCTCCCCTACTCTCCTCACTCTATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0011 a0002c0002t0018g0011	1	280	0.0036	827	c.89- others(840): Show c.89-381_89-380insCATAGAGTGAGGAGAGTAGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGC TTGTGGGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTG TGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGCAGTGCTTGTGG GGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGG GGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGA ATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAAT GAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTAGAATGAGG AGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTAGAATGAGGAGAG TGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGTAGAATGAGGAGAGTAGG GGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGA GGGCTGGAGTGATGCTTGTGGGGGGATAGAGTAAGGAGAGTAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401613	G G	GGCCCCGC others(820): Show GGCCCCGCTCACACCCGACCCCGCTCACCCCCCGGCCCCGCTCACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCGCCCCGCTCACACCCCGGCCCCCGCTCACACCCGGACCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCGCACCGCTCACACCCGCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAAC CCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCGCTCTACCCCGAC CCGCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCC GCTCACACCCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGACCCGCTCACGACTCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCCACCCCCCCCC ACAGCACACACCCGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	242	0.0041	827	c.42 others(838): Show c.4282_*4283insGGGTGTGAGCGGGGCGGGTGTGTGCTGTGGGGGG GGGTGGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGT GTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGAGTCGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCCGGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGGTGTGAGCCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGCGGGTCGGG GTAGAGCGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGTTGAG CGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGG CGGGTGTGAGCGGTGCGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGTCCGGGTGTGAGCGGGGGCCGGGGTGTGAGCGGGGCGGTGTGAG CGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCGGGGGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG TGAGCGGGGCCGGGGGGTGAGCGGGGTCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4102		chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTA others(820): Show CATATTTAATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAAT ATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATAT AATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATAT TATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTA TATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATA TTTTATAATATATAATATATTATATTTTATAATATATAATATATTATATT TTATATATATTATAAAATATAATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	340	0.0029	827	c.17 others(846): Show c.174+9760_*174+9761insAATATATTATATTTTATAATATATAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAAGATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAATATAATATATTATATTTTATAAAATATAATATATTATATTTT ATATATATTATAAAATATAATATATTATATATTATAATATGTAATATATA TTATATATTATAATATATAATATATATTATATATTATAATATGTAATATA TATTATATATTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAAAATATAATATATATTACATATTATAAAATATAA TATATTATATATTATAAAATATAATATATATTACATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATAATATTAAATA T	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(820): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGG GGGGCAGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	150	0.0067	827	c.531 others(844): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCTGCCCC CCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCT GCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905212	C C	CCTGTTCC others(820): Show CCTGTTCCTCTTCCCGCCACTCTTCCTCCCCCTCCTCCTCCTGTTCCTCT TCCTGCCACTCTTCCTCTCCTGCCTCCTTCTGCTCCTCTTCCTGCCACTT TTCCTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCCCCTCCTCCT TCTGTTCCTCTTCCCACCACTCTTCCTCCCCCTCCCCCTTCTGCTCCTCT TCCTGCCACTTTTCCTCCCCCTCGTCCTGCTCCTCTTCCCACCACTGTTC CTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCT GTTCCCCTTCCTGTCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGC CACTGTTTCTCCCCCTCCTCCTGCTCCTCTTCCCGCCACTGTTTCTCCCC CTCCTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCT CTTCCCGCCACTGTTTCTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCT TCCTCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTCCCTTCCCCTCCTC CTGCTCCTCTTTCTGCCACTCTTCCTCCCCTTCCTGCTCCTCTTCCCACC ACTCTTCCCCCTCCTCCTGCTCCTCTTCCCACCACTCTTCCTCCTCCTCC CCCTGCTCCTCTTCCCACCACTCTTCCTCCTCCTCCCCCTGCTCCTCTTC CCACCACTCTTCCTACCCTTCATCCTCTTCCTGCCACTCTTCCTCCTCCT CCTCCTGCTCCTCTTCCCACCACTCTTCTCCTCCCCCTCCTCCTGTTTCT CTTCCTGCCACTCTTCCTCCCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19056.hp1 NA19011.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0057 a0001c0001t0002g0017 a0001c0001t0002g0057	2	274	0.0073	827	c.744 others(844): Show c.744+5859_744+5860insCCTCTTCCCGCCACTGTTTCTCCCCCTC CTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTT CCCGCCACTGTTTCTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCC TCCCCCTCCTCCTGTTCCCCTTCCTGCCACTCTCCCTTCCCCTCCTCCTG CTCCTCTTTCTGCCACTCTTCCTCCCCTTCCTGCTCCTCTTCCCACCACT CTTCCCCCTCCTCCTGCTCCTCTTCCCACCACTCTTCCTCCTCCTCCCCC TGCTCCTCTTCCCACCACTCTTCCTCCTCCTCCCCCTGCTCCTCTTCCCA CCACTCTTCCTACCCTTCATCCTCTTCCTGCCACTCTTCCTCCTCCTCCT CCTGCTCCTCTTCCCACCACTCTTCTCCTCCCCCTCCTCCTGTTTCTCTT CCTGCCACTCTTCCTCCCCCTCCTTCTGTTCCTCTTCCCGCCACTCTTCC TCCCCCTCCTCCTCCTGTTCCTCTTCCTGCCACTCTTCCTCTCCTGCCTC CTTCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCCTCCTGTTCCCCTT CCCACCACTCTTCCCCCTCCTCCTTCTGTTCCTCTTCCCACCACTCTTCC TCCCCCTCCCCCTTCTGCTCCTCTTCCTGCCACTTTTCCTCCCCCTCGTC CTGCTCCTCTTCCCACCACTGTTCCTCCCCCTCCTCCTGTTCCCCTTCCC ACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTGTCACTTTTCCTCC CCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCCCCTCCTCCTGCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(820): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGG AGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAGGGAGGAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0009 a0001c0001t0041g0009	1	322	0.0031	827	c.597 others(844): Show c.597+1546_597+1547insTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(820): Show CCATCCTCCCTCCACCCCACCCATCCTCTCCTCCGCCCAACCCATCCCCC CCTCCCCTCACCCATCCCTCATCCTCCCTCCACCCCACACATCCCCCATC CTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCC CATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCAT CCTCTTCCTCCGCCCAACCCATCCCCCCTCCCCTCACCCATCCCTCATCC TCCCTCCACCCCACACATCCCCCATCCTCCCTCCACCCCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCCACCCATCCCCCATCCTCCCTCCACCCCAC CCATCCCCCATCCTCCCTCCACCCCACCCCATCCCCCATCCTCCTCCGCC CCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCC CTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCCTCCCTC CGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCA TCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCC GCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCCTCCCCTCACCCA TCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCAT CCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCACCCCACCCATCC CCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0021 a0005c0006t0021	a0005c0006t0021g0019 a0005c0006t0021g0019	1	112	0.0089	827	c.142 others(848): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCTCCTCCGCCCAACCCATCCCCCCCTCCCCTCACCCATCCCTCATCCTC CCTCCACCCCACACATCCCCCATCCTCCCTCCACCCCACCCATCCCCCAT CCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCC CCATCCTCCCTCCACCCCACCCATCCTCTTCCTCCGCCCAACCCATCCCC CCTCCCCTCACCCATCCCTCATCCTCCCTCCACCCCACACATCCCCCATC CTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCC CATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCCACCCA TCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCA CCCCATCCCCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCC ATCCCCCCTCCCCTCACCCATCCCCTCCCTCCGCCCCACCCATCCCTCCC TCCGCCCCACCCATCCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCA CCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCC CTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCA CCCATCCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACC CATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTC CGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIML1_chr4_188134441_188152743	188152197	G G	GGGGAGTG others(820): Show GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGTGAG AGTGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGCGGTTGAGAAGGGGAGTGAGAGAG AGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGGAGTGAGAGTGGG GTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGAGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGTTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAG TGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAG AGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGA GTGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG GGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGCGGGT GAGAAGGGAAGTGAGAGTGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTTG AGAAGGGGAGTGAGAGAGAGGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0129 a0001c0006t0002g0129	1	228	0.0044	827	c.48 others(838): Show c.4825_*4826insGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAG AAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGCGGTTGAGA AGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGG GGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGG GAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGAGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGG CTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTG AGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGAGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGCGGGTGAGAAGGGAAGTGAGAGTGGGGTTGAGAAGGGGAG TGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4455		chr4	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(820): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATATATTATTATATGTTATTATATATAATAATATATATTATTA TATGTTATTATATATAATAACATATTATATATTATGTTATTATATATAAT AACATAATATATATTATATGTTATTATATATAATAACATAATATATATTA TTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTA TATATAATAACATAATATATATTATTATATGTTATTATATATAATAACAT AATATATATTATTATATGTTATTATATATAATAACATAATATATATTATT ATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATA TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAT ATTATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATATATATTATATTATATATAATAATATAATATAT ATTATATTATTATATATAATAATATAATATATATTATTATATATTATATA TTATTATATATAATATATATATAATTATATTATTATATATTATTATATAT AATATATATAATTATATATATATTATATATATTATATATAATAATAATAT ATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0214 a0002c0003t0010g0214	1	238	0.0042	827	c.392 others(844): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATTATATATAATAACATATAATAATATATATTATTA TATATAATAACATATAATAATATATATTATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(820): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAATA ATATATATTATTATATGTTATTATATATAATAATATAATATATATTATTA TATGTTATTATATATAATAACATATTATATATTATGTTATTATATATAAT AACATAATATATATTATATGTTATTATATATAATAACATAATATATATTA TTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTA TATATAATAACATAATATATATTATTATATGTTATTATATATAATAACAT AATATATATTATTATATGTTATTATATATAATAACATAATATATATTATT ATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATA TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAT ATTATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATATATATTATATTATATATAATAATATAATATAT ATTATATTATTATATATAATAATATAATATATATTATTATATATTATATA TTATTATATATAATATATATATAATTATATTATTATATATTATTATATAT AATATATATAATTATATATATATTATATATATTATATATAATAATAATAT ATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18960.hp1 HG00438.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0212 a0002c0003t0002g0218 a0002c0003t0002g0212 a0002c0003t0002g0218	2	238	0.0084	827	c.392 others(844): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 7053 hits)