Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1350488	C C	CGGGTCCT others(563): Show CGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGG AAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGA GTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCG CGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGG AAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGA GTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCG CGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGG AAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGA GTGTGCGTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTG CGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGAGCATGCGTGG AACGGCCGTGCGGGTCCTGAGCGTGCGTGGAAAGCCCGTGCGGGTCCTGA GCGTGCGTGGAAAGGCCGCGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	570	c.106 others(589): Show c.106+91614_106+91615insGTGTGCGTGGAAAGGCCGCGCGGGTC CTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGC CGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGC GTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTC CTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGC CGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGC GTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGCGCGGGTC CTGAGTGTGCGTGGAAAGGCCGCGCGGGTCCTGAGTGTGCGTGGAAAGGC CGCGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGAGTGTGC GTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTC CTGAGCATGCGTGGAACGGCCGTGCGGGTCCTGAGCGTGCGTGGAAAGCC CGTGCGGGTCCTGAGCGTGCGTGGAAAGGCCGCGTGGGTCCTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(563): Show TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCAT CACCACCACCTCCACCATCACCACCACTTCCTTCACCACCACCACCATCT TCACCGTCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACC ACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCACCTCCAC CTCCACCACCACCACCTCCTTCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCATCACCTCCACCAT CACCACCACCTCCACCATCAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0011 a0011	a0011c0161 a0011c0161	a0011c0161t0002 a0011c0161t0002	a0011c0161t0002g0234 a0011c0161t0002g0234	1	256	0.0039	570	c.323 others(587): Show c.3234+761_3234+762insTCCTTCACCATCACCATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACC AGCATCTTCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCAC CACCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCT CCACCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCTCCACCACCACCACCTCCTTCACCATCACCACCTC CTTCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTCCA CTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC ATCACCTCCACCATCACCACCACCTCCACCATCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(563): Show CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCTCCACCACCACCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCATCACCACCACCACCACCACCTCCACCACCTCCACCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0118 a0009c0015t0003g0118	1	256	0.0039	570	c.323 others(589): Show c.3234+1467_3234+1468insTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCATCACCACCACCACCACCACCTCCACCA CCTCCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCA CCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55167366	A A	AGGGTGGT others(563): Show AGGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATG ATGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTG AGGAGGTGGGAGTCACAATGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0002 a0002c0037t0002	a0002c0037t0002g0035 a0002c0037t0002g0035	1	250	0.0040	570	c.188 others(589): Show c.1880+1929_1880+1930insGGGTGGTGATGGTGATGAGGAGGTGG GAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAGGTGG GAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAG TGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAG TGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAA TGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAA TGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGG TGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGG TGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGG TGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGG TGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGG TGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27			chr7	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(563): Show GTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGT CTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTGTCTCTCCCTCCC CTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCC TCCCCTTCCACCGTCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCATCTC TGTCTCTGTCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCG TCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTGTCTCTCCCTCC CCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCC CTCCCCTTCCACCGTCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCATCT CTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACC ATCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTC TCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTG TCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0093 a0001c0011t0007g0093	1	330	0.0030	570	c.-13 others(587): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGACAGAGAC GGTGGAAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAG AGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGACAGAGATGGTGGAA GGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGATGGT GGAAGGGGAGGGAGAGACAGAGACAGAGACGGTGGAAGGGGAGGGAGAGA CAGAGACGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGA GAGACAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGACGGTGGA AGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGACAGAGACAGAGATGG TGGAAGGGGAGGGAGAGACAGAGACAGAGACGGTGGAAGGGGAGGGAGAG ACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGG AGAGACAGAGACAGAGACGGTGGAAGGGGAGGGAGAGACAGAGACGGTGG AAGGGGAGGGAGAGACAGAGACGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
F10_chr13_113117799_113154529	113151454	T T	TGAGCAGC others(563): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAG GAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTG AGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGT CACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGA GAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGG TGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAG AACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGG AGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAG AGGTGAGACCCTGAGGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0044 a0001c0007t0001g0044	1	412	0.0024	570	c.19 others(581): Show c.1937_*1938insGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAA AGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAG GACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGA TTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCG AGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAG GAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTG AGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
FBXL14_chr12_1560993_1599581	1574506	A A	ATGGAGGC others(563): Show ATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGATGGAGGCT GGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGG GGAGGCTGGCAGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGG CAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGT GAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGTGTGGAT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGG GGTGGGGGAGGCTGGCGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGTGGCAGCCGTGTGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0037 a0001c0002t0006g0037	1	418	0.0024	570	c.119 others(589): Show c.1195-7697_1195-7696insCCCACACGGCTGCCACCAGCCTCCCC TCACCCCAGCCTCCACCCACACCGCTGCCGCCAGCCTCCCCCACCCCAGC CTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCA CACCGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACTGCTGCC ACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCGCCAGCCTC CCCCACCCCAGCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCAGCCTCCCCTCA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCT CCATCCACACCGCTGCTGCCAGCCTCCCCTCACCCCAGCCTCCA	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(563): Show TATATAAATATATAAAAATATATAAATATATAAATATATAAAAATATATA AATACATAAATATATAAATATATAAATATATATACATAAATATATAAATA TATAAATATATAAATATATAAATATATAAATACATAATATATAAATATAA AATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAA AATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATAT ATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATA TAAATATATAATATATAAATATATATAAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATACAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	344	0.0029	570	c.617 others(587): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTTATATATATTTATATATTATATATTTATATATAA TATATATTTATATATTTTTATATATATTTATATATTTTTATATATATTTA TATGTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATA TATATTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATT TATATATTATGTATTTATATATTTATATATTTATATATTTATATATTTAT ATATTTATGTATATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(563): Show TATATAAATATATAAAAATATATAAATATATAAATATATAAAAATATATA AATACATAAATATATAAATATATAAATATATATACATAAATATATAAATA TATAAATATATAAATATATAAATATATAAATACATAATATATAAATATAA AATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAA AATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATAT ATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATA TAAATATATAATATATAAATATATATAAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATACAATATATAAAT ATATATAAATATATATAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	344	0.0029	570	c.617 others(587): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTTATATATATTTATATATTATATATTTATATATAA TATATATTTATATATTTTTATATATATTTATATATTTTTATATATATTTA TATGTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATA TATATTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATT TATATATTATGTATTTATATATTTATATATTTATATATTTATATATTTAT ATATTTATGTATATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241805556	A A	ACCTTCCC others(563): Show ACCTTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	314	0.0032	570	c.13 others(581): Show c.1390_*1391insCCTTCCCTCCCCCCTCAGCCCAGGGATGTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1270		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252920	C C	CCACCATC others(563): Show CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0310 a0001c0001t0057g0310	1	366	0.0027	570	c.666 others(587): Show c.666+1708_666+1709insCCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252974	C C	CCACCACC others(563): Show CCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0032 a0001c0001t0108g0032	1	366	0.0027	570	c.666 others(587): Show c.666+1765_666+1766insCCACCACCACCATCACCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPR173_chrX_53043789_53085615	53073915	A A	ATATATAT others(563): Show ATATATATTTATATTTATTTATATATATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATTTATATATATATATAAATATAT ATATTTATATATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATATTTAT ATTTATATTTATATATTTATATTTATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTAATATATATTTATATATATAAAT ATATATATTAATATATATTTATATATATAAATATATATATTTATATATAA ATATATATTTATGTATATTTATATATAAATATATATATTTATATATATAA ATATATATATTTATATATAAATATATATATTTATATATATATTTATATAT AAATATATATATTTATATATATATTTATATATATAAATATATATATTTAT ATATATAAATATATATATATTTATATTTACAAATATATATATTTATATAT ATATTTATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp1 HG02965.hp1 others(2): Show HG01081.hp1 HG02280.hp1 HG02965.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0072 a0001c0001t0008g0174 a0001c0001t0008g0175 others(2): Show a0001c0001t0008g0072 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0015g0067 a0001c0001t0015g0070	5	208	0.0240	570	c.-97 others(587): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTAATATATATTTATATATATAAATAT ATATATTTATATATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATATATTTATATATAAATATATATATTTATATATATATTTATATATAT AAATATATATATTTATATATATAAATATATATATATTTATATTTACAAAT ATATATATTTATATATATATTTATATTTATATATATTTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR35_chr2_240620480_240638159	240625870	T T	TGGGGTGA others(563): Show TGGGGTGAGACTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGT TCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGG GTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTC TCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCT GATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGT GAGGCTGTGACAGGGGTTCTCAGAGTGAGGTGAGGCTGTGACGGGGTCTC AGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGA TGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGA GGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAG AGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGG GGGTCTCAGAGCGGGGTGAGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	400	0.0025	570	c.-5+ others(583): Show c.-5+310_-5+311insACTCTGATGGGGTCTCAGAGTGGGGTGAGGCT GTGATGGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGT GACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGG TGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCA GAGTGGGGTGAGGCTGTGACAGGGGTTCTCAGAGTGAGGTGAGGCTGTGA CGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTG AAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGA GTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACG GGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGG CTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPR35_chr2_240620480_240638159	240625870	T T	TGGGGTGA others(563): Show TGGGGTGAGACTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGT TCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGGG GTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTC TCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCT GATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGT GAGGCTGTGACGGGGGTTCTCAGAGTGAGGTGAGGCTGTGACGGGGTCTC AGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGA TGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGA GGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAG AGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGG GGGTCTCAGAGCGGGGTGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(19): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG01106.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG03927.hp1 NA18950.hp1 NA18962.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA19002.hp1 NA19009.hp2 NA19056.hp2 NA19057.hp2 NA19068.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0030 a0001c0001t0036 others(1): Show a0001c0001t0003 a0001c0001t0030 a0001c0001t0036 a0001c0007t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 others(12): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0033 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0207 a0001c0001t0030g0211 a0001c0001t0036g0035 a0001c0007t0003g0005 a0001c0007t0003g0061	22	400	0.0550	570	c.-5+ others(583): Show c.-5+310_-5+311insACTCTGATGGGGTCTCAGAGTGGGGTGAGGCT GTGATGGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCT CAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGT GACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGG TGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCA GAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTGAGGCTGTGA CGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTG AAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGA GTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACG GGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGG CTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GUCY1A2_chr11_106669019_107023476	106710134	A A	ATTATATA others(563): Show ATTATATACATGTATATAACATATAGTTATATATTATATACATGTATATA ACATATAGTTATATATTATATACATGTATATAACATATAGTTATGTATAT TATATACATGTATATAACATATAGTTATGTATATTATATACATGTATATA ACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTAT ATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATA TAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGT ATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTA TATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTAT GTATATTATATACATGTATATAACATATAGTTATGTATATTATATACATG TATATAACTATATGTATATAATATATAGTACATGTATATAATATATAGTT ATATATAATATAGTTATATACATGTATATAATATATAGTTATATATAATA GTTATATATATTATATACATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18974.hp1 NA18988.hp2 HG02071.hp2 NA18974.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0059 a0001c0001t0007 a0001c0001t0059	a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0059g0053 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0059g0053	3	256	0.0117	570	c.183 others(589): Show c.1837-1469_1837-1468insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATAACTATATTATATATAACTA TATATTATATACATGTACTATATATTATATACATATAGTTATATACATGT ATATAATATACATAACTATATGTTATATACATGTATATAATATACATAAC TATATGTTATATACATGTATATAATATACATAACTATATGTTATATACAT GTATATAATATACATAACTATATGTTATATACATGTATATAATATACATA ACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATAC ATGTATATAATATACATAACTATATGTTATATACATGTATATAATATACA TAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATAT ACATGTATATAATATACATAACTATATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(563): Show TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGGAATATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATGGAATATAT ACATATGGAATATATATATGGAATATATACATATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATATGGAATATATACGTATGGAATATATATA TATGGAATATATACGTATGGAATATATATATATGGAATATATACGTATGG AATATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	323	0.0031	570	c.-21 others(581): Show c.-2186_-2185insGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GGAATATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATATGGAATATATATATGGAATATATACATATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATATGGAATATATACG TATGGAATATATATATATGGAATATATACGTATGGAATATATATATATGG AATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATAT ATATATGGAATATATACGTATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(563): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGG AAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	282	0.0036	570	c.290 others(589): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCC TTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTC CCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCTCCCCCCTCCTCCCC CCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCC TCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCGC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCCTCCTCCCCCT CCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTC CCACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCGCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18980.hp1 NA18979.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0197 a0001c0001t0002g0179 a0001c0001t0002g0197	2	252	0.0079	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCAC CACCTCCATCCTCCTCCCCCCCCCATCCCCATCCTCCTCCACCTCCTCCT CCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCC CCACCTCCTCCTCCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTC CCCCCCCCTCCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCGCTCTC CCCTCCTCCTCCCCATTCTGCTCTCCCCTCCTCCCCCCTCCTCCTCCCCC TCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCACCACCTCCATCCTCCTCCCCCCCCCATCCCCATCCTC CTCCACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTC CTCCTCCCCCTCCCCCACCTCCTCCTCCCTCCCCCCTCCTCGTCCTCCTC CCCCTCCTCCTCTCCCCCCCCCTCCCCCCCCCCTCCTCCCCCCTCCTCCT CCTCCTCCGCTCTCCCCTCCTCCTCCCCATTCTGCTCTCCCCTCCTCCCC CCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC CCCTCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCCTCCT CCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCATCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCATCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02897.hp1 HG03486.hp2 others(1): Show HG02809.hp1 HG02897.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0227 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0227 a0001c0001t0002g0246	4	252	0.0159	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	252	0.0040	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(563): Show CCTCCTCCCCCCACCCACCCCTCCCCTTTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTC TTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCC CCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19030.hp2 NA19043.hp2 HG01169.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249	3	252	0.0119	570	c.10- others(587): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTTTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCC CCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT CCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(563): Show CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0004 a0006c0012t0004	a0006c0012t0004g0065 a0006c0012t0004g0065	1	282	0.0036	570	c.258 others(587): Show c.2584-107_2584-106insACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCC TCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(563): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC TGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0191 a0002c0001t0001g0191	1	282	0.0036	570	c.258 others(587): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(563): Show CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGAACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACAGGAACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACA CGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAACAT GGGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGAACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0104	1	312	0.0032	570	c.625 others(589): Show c.625-12590_625-12589insGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGAACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGGACGTGGGGACGGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGAAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGAACATGGGGACACAAGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACGGGAACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3			chr18	TogoVar
KIF3B_chr20_32272651_32340011	32323070	T T	TTATATAC others(563): Show TTATATACATATATTTATATACATATTTATATATATTTATATACATATAT TTATATATATATATTTATATATATATTTATATACATATATTTATACATAT ATTTATATACATATATTTATATATATATTTATATATATATTTATATACAT ATATTTATATATATATTTATATACATATATTTATATATATATATTTATAT ACATATATTTATATATTTATATATATTTATATATATTCATATTTATATTT ATATATATTTATATATATATTTATATTTATATATATATTTATATTTAATT ATATTTATATATATTTATATATATATTTATATTTGTATATATTTATATAT ATGTATATTTATATATATTTATATATTTATATATTTATATTTATATATAT CTATATATTTATATATATTTATATATTTATATTTATATATATTTATATAT TTATATATATTTATATATTTATATTTATATATATTTATATTTATATATAT TTATATATTTATATTTATATATATTTATATTTATATATTTATATATTTAT ATTTATATATATTTATATTTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0078 a0001c0002t0023g0078	1	242	0.0041	570	c.174 others(589): Show c.1749-3695_1749-3694insCATATATTTATATACATATTTATATA TATTTATATACATATATTTATATATATATATTTATATATATATTTATATA CATATATTTATACATATATTTATATACATATATTTATATATATATTTATA TATATATTTATATACATATATTTATATATATATTTATATACATATATTTA TATATATATATTTATATACATATATTTATATATTTATATATATTTATATA TATTCATATTTATATTTATATATATTTATATATATATTTATATTTATATA TATATTTATATTTAATTATATTTATATATATTTATATATATATTTATATT TGTATATATTTATATATATGTATATTTATATATATTTATATATTTATATA TTTATATTTATATATATCTATATATTTATATATATTTATATATTTATATT TATATATATTTATATATTTATATATATTTATATATTTATATTTATATATA TTTATATTTATATATATTTATATATTTATATTTATATATATTTATATTTA TATATTTATATATTTATATTTATATATATTTATATTTATATATA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(563): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATG GTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGGGGGTGATGACGGT GATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAG AGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTG ATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGT GATGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0141 a0001c0005t0001g0141	1	186	0.0054	570	c.956 others(587): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCA TCACCCCCACCATCATCACCCCCACCCCCACCCCCACCCCCACCATCACC CCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	953695	C C	CACACCAG others(563): Show CACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCAC ACAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGAC CCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCT TCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTTC ACACAGACACGGACCCCAAACCAGCCTCCTGCACATCCACACAGACACAG ACCCGAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAG CTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACC AGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCAC ATCCACACAGACACAGACCCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0118 a0009c0024t0001g0118	1	294	0.0034	570	c.503 others(585): Show c.503+661_503+662insCGGGTCTGTGTCTGTGTGGATGTGCAGGAG GCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGG TCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCG GGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTGTCTG TGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTA GGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGT GGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTC TGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTG CAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89341900	A A	ACCCACAG others(563): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTC CACCCACAGCGGCCACAGCCCACGGCAGGAGTGCTGCACCTCCACCCACA GCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGC CACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCC ACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGC GGGAGTGCTGCACCTCCACTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 others(2): Show a0001c0001t0000g0362 a0001c0001t0000g0363 a0001c0001t0000g0364 a0001c0001t0000g0365 a0001c0001t0000g0366	5	366	0.0137	570	c.10- others(587): Show c.10-24826_10-24825insCAGTGGAGGTGCAGCACTCCCGCCGTGG GCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGT GGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTG TTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGT GGAGGTGCAGCACTCCTGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGC AGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCAC TCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCG CCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGC CGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGG CCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCT GTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGG AGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGCCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0001 a0001c0001t0050g0001	1	414	0.0024	570	c.-43 others(581): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGCCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCATGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0001 a0004c0013t0002g0001	1	414	0.0024	570	c.-43 others(581): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCATGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02132.hp2 others(3): Show HG00597.hp2 HG00609.hp1 HG02132.hp2 NA18962.hp2 NA18980.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0002 a0001c0001t0017 a0001c0001t0031 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0002c0007t0002	a0001c0001t0002g0001 a0001c0001t0017g0001 a0001c0001t0031g0001 others(2): Show a0001c0001t0002g0001 a0001c0001t0017g0001 a0001c0001t0031g0001 a0001c0001t0032g0001 a0002c0007t0002g0001	6	414	0.0145	570	c.-43 others(581): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(563): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0078 a0003c0009t0078	a0003c0009t0078g0004 a0003c0009t0078g0004	1	414	0.0024	570	c.-43 others(581): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(563): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0001 a0001c0003t0060g0001	1	414	0.0024	570	c.-43 others(581): Show c.-4349_-4348insAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4187		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(563): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	414	0.0024	570	c.-43 others(581): Show c.-4349_-4348insAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4187		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(563): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01993.hp1 NA18959.hp2 others(4): Show HG00438.hp1 HG01993.hp1 NA18959.hp2 NA18966.hp2 NA18983.hp2 NA18990.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0031	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0022g0001 others(1): Show a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0022g0001 a0001c0001t0031g0001	7	414	0.0169	570	c.-43 others(580): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4158		chr8	TogoVar
LUC7L_chr16_183990_234449	186748	G G	GGGAACAG others(563): Show GGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGA CACGGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAA CAGCGACACGGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	350	0.0029	570	c.24 others(581): Show c.2449_*2450insTCCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CTCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2241		chr16	TogoVar
MALRD1_chr10_19043801_19739478	19315302	A A	ATATAATT others(563): Show ATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATGTATATAAATATATAACTATAATTTATAGAAATATAATGT ATATAAATATATAACTATAATTTATAGAAATATAATGTATATAAATATAT AACTATAATTTATAGAAATATAATGTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAAATATAATTTATAGAAATATAAT TTATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0038 a0038	a0038c0042 a0038c0042	a0038c0042t0001 a0038c0042t0001	a0038c0042t0001g0023 a0038c0042t0001g0023	1	152	0.0066	570	c.342 others(589): Show c.3420-8610_3420-8609insCTATAATTTATAGAAATATAATGTAT ATAAATATATAACTATAATTTATAGAAATATAATGTATATAAATATATAA CTATAATTTATAGAAATATAATGTATATAAATATATAACTATAATTTATA GAAATATAATGTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315428	G G	GAAATATA others(563): Show GAAATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAAATATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAA ATATATAACTATAATTTATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0072 a0072	a0072c0055 a0072c0055	a0072c0055t0001 a0072c0055t0001	a0072c0055t0001g0108 a0072c0055t0001g0108	1	152	0.0066	570	c.342 others(589): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AAATATAATTTATAGAAATATAATTTATATAAATATATAAATATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAA ATATATAACTATAATTTATATAAATATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(563): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCATCACCACCACCACCATCACCA CCACCATCACCATCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCATCACCACCACCATCACCATCACCACCAC CACCACCATCACCATCACCAGCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCCTCACCACCATCACCACCACCACCATC ACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0001 a0028c0048t0001	a0028c0048t0001g0120 a0028c0048t0001g0120	1	362	0.0028	570	c.391 others(585): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATC ACCATCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCCTCACCACCATCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(563): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC CCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACA ACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0109 a0003c0003t0009g0109	1	292	0.0034	570	c.377 others(587): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar

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Search Results (Total: 10000 hits)