Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(232): Show TCCACCCACCCACCCATCTACCCACCTACCCATCCATCCAACCGTCCATC CATCCATTCATCACCCAGCCATTCATTCATCTATCTATCCATCCATCCAT CATCCACCCATGCATCCAACAGTACCCATCCATCCATCCATTCATCATCC AGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCACCCAAT GGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18942.hp1 NA18947.hp1 others(4): Show HG02155.hp1 NA18942.hp1 NA18947.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0005 a0001c0001t0005g0111 a0001c0001t0015g0075 a0001c0001t0005g0005 a0001c0001t0005g0111 a0001c0001t0015g0075	7	388	0.0180	239	c.55 others(250): Show c.5502_*5503insCCACCCACCCACCCATCTACCCACCTACCCATCC ATCCAACCGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTATC TATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCATCC ATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCATCATCC ACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACGGTCCA TCCAC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		4017		chr19	TogoVar
PXDN_chr2_1626887_1749515	1719975	A A	AGAGGGAG others(232): Show AGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGGATGCAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGGGAGGGAGGGATGCAGAGAGA GAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	322	0.0031	239	c.200 others(258): Show c.200+24280_200+24281insCCTCTCTCTCTCTCTACATCCCTCCC TCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTC CCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTGCATCCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720298	A A	AGGGAGGG others(232): Show AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGATGCACAGAGAGAGGG AGGGATGCAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	322	0.0031	239	c.200 others(258): Show c.200+23957_200+23958insCTCCCTCTCTCTCTGCATCCCTCCCT CTCTCTGCATCCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATCCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB5A_chr3_19942097_19990175	19957092	C C	CTAATTTT others(232): Show CTAATTTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTATT TTTTTATTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(5): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02615.hp2 HG02723.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0109 a0001c0001t0006g0111 others(3): Show a0001c0001t0006g0010 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0287 a0001c0001t0006g0289	8	348	0.0230	239	c.163 others(256): Show c.163+6048_163+6049insTTTTTTTATTTTTTTATTTTTTTTTTTT TATTTTTTTATTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTAATTT TTTATTTTTTT	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB5A_chr3_19942097_19990175	19957092	C C	CTAATTTT others(232): Show CTAATTTTTTATTTTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0110 a0001c0001t0021g0110	1	348	0.0029	239	c.163 others(256): Show c.163+6048_163+6049insTTTTTTTATTTTTTTATTTTTTTTTTTT TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTAATTT TTTATTTTTTT	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB5A_chr3_19942097_19990175	19957092	C C	CTAATTTT others(232): Show CTAATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTATT TTTTTATTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0288 a0001c0001t0006g0288	1	348	0.0029	239	c.163 others(256): Show c.163+6048_163+6049insTTTTTTTATTTTTTTTTTTTTTTTTTTT TATTTTTTTATTTTTTTTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTAATTT TTTATTTTTTT	RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114099721	G G	GCCCCCCA others(232): Show GCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCC CCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAG CAGCCCCCCCACATCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGC AGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCC CCGTAGCCCCCACCCCACAGCCCCCCCCACAGCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	67	0.0149	239	c.56- others(256): Show c.56-25885_56-25884insTGGGGGGGCTGTGGGGGGGGCTGTGGGG TGGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGAT GTGGGGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGG GCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCT GCTGTGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114133288	C C	CCCCCCCC others(232): Show CCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCAGT CCCCCTGCAGACCCCGGCACCGGCAGGTCTCCCCCACCCAGTCCCCCTGC AGACCCCAGCATGAGCAGGTCCCCCCCCCAGTCCCCCTGCAGACCCCAGC ATGAGCAGGTCCCCCCCCCAAGTCCCCCTGCAGACCCCAGCATGGGCAGG TCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	239	c.-80 others(248): Show c.-800_-799insACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGG GGGACCTGCCCATGCTGGGGTCTGCAGGGGGACTTGGGGGGGGGACCTGC TCATGCTGGGGTCTGCAGGGGGACTGGGGGGGGGACCTGCTCATGCTGGG GTCTGCAGGGGGACTGGGTGGGGGAGACCTGCCGGTGCCGGGGTCTGCAG GGGGACTGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGG GGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		666		chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(232): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCCATCCCCCGTCCCCATCCCCCACCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp2 HG02809.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0050 a0001c0001t0003g0051	2	452	0.0044	239	c.757 others(254): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCATCCC CCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RFX3_chr9_3213297_3531001	3504757	A A	ATATATAG others(232): Show ATATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTAT ATGCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGG TATATATTGTATATAAAATATATATTATATGCTATATGGTATATATTGTA TATAAAATATATAGTATATGCTATATGGTATATATTGTATATAAAATATA TATTATATGCTATATGGTATATATTGTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	196	0.0051	239	c.-9+ others(256): Show c.-9+20989_-9+20990insATATATTTTATATACAATATATACCATA TAGCATATAATATATATTTTATATACAATATATACCATATAGCATATACT ATATATTTTATATACAATATATACCATATAGCATATAATATATATTTTAT ATACAATATATACCATATAGCATATAATATATATTTTATATACAATATAT ACCATATAGCATATACTATATATTTTATATACAATATATACCATATAGCA TATACTATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504757	A A	ATATATAT others(232): Show ATATATATTATATGCCATATGGTATATATTGTATATAAAATATATATTAT ATGCCATATGGTATATATTGTATATAAAATATATATTATATGCTATATGG TATATATTGTATATAAAATATATATTATATGCTATATGGTATATATTGTA TATAAAATATATATTATATGCTATATGGTATATATTGTATATAAAATATA TATTATATGCTATATGGTATATATTGTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02717.hp2 others(3): Show HG01099.hp2 HG02257.hp1 HG02717.hp2 HG02723.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0036 a0001c0001t0012 a0001c0001t0018 a0001c0001t0036	a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 others(3): Show a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0036g0078	6	196	0.0306	239	c.-9+ others(256): Show c.-9+20989_-9+20990insATATATTTTATATACAATATATACCATA TAGCATATAATATATATTTTATATACAATATATACCATATAGCATATAAT ATATATTTTATATACAATATATACCATATAGCATATAATATATATTTTAT ATACAATATATACCATATAGCATATAATATATATTTTATATACAATATAT ACCATATGGCATATAATATATATTTTATATACAATATATACCATATGGCA TATAATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(232): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	280	0.0036	239	c.3+2 others(254): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(232): Show TTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0078 a0008c0017t0001g0078	1	280	0.0036	239	c.3+2 others(254): Show c.3+24902_3+24903insGAAAAGAAAGAAAAGAAAAGAAAAGAAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAA GAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(232): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	239	c.-69 others(248): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18988.hp1 NA19087.hp1 NA18962.hp2 NA18988.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0265	3	426	0.0070	239	c.22 others(250): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	426	0.0024	239	c.22 others(250): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	426	0.0024	239	c.22 others(250): Show c.2256_*2257insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882090	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTAGATATATAGATACATCATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAATCTATATAG ATACATCTATATAGATATATAATCTATATAGCTATATAGATACATCTATA TAGCTATATAGATACATCTATATAGCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02135.hp1 NA18965.hp2 HG01106.hp2 HG02135.hp1 NA18965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0126 a0004c0004t0002g0130 a0004c0004t0002g0160 a0004c0004t0002g0126 a0004c0004t0002g0130 a0004c0004t0002g0160	3	426	0.0070	239	c.23 others(250): Show c.2364_*2365insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTAGATATATAGATACATCATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAATCTATATAGATACATCTATATAGATATATAATCTATATAGCTAT ATAGATACATCTATATAGCTATATAGATACATCTATATAGCTATATAGAT ACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2170		chr13	TogoVar
RNF220_chr1_44400255_44656723	44475801	C C	CAAGAGAT others(232): Show CAAGAGATCAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18906.hp2 HG01981.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0086 a0001c0001t0017g0071 a0001c0001t0001g0086 a0001c0001t0017g0071	2	218	0.0092	239	c.625 others(258): Show c.625+63098_625+63099insGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGA TCAAGACCATCCT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF223_chr1_1065967_1079306	1078145	A A	AGGCTGAG others(232): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACT CCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	239	c.-41 others(250): Show c.-4140_-4139insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCT CAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTC CCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCC CCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCT CAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3840		chr1	TogoVar
SART1_chr11_65956734_65985137	65970879	T T	TGAGGAGG others(232): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAAGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0111 a0002c0001t0001g0111	1	384	0.0026	239	c.157 others(258): Show c.1572+3059_1572+3060insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAAGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGGAGGGGGATGG TGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB1C2_chr17_132569_144067	141295	A A	AGGAGGAC others(232): Show AGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACATG GTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	402	0.0025	239	c.23 others(250): Show c.2353_*2354insGGAGGACCTGGTGAGGGGAACATGGGTGGGACCT TGGTGAGGGGACATGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGA CATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTG AGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2229		chr17	TogoVar
SHOX_chrX_625791_656584	625878	T T	TTCTCTCT others(232): Show TTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTC TGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTC TGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTGTCTCT TTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTC TTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA19077.hp2 NA18946.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0086 a0001c0001t0062 a0001c0001t0086	a0001c0001t0062g0044 a0001c0001t0086g0202 a0001c0001t0062g0044 a0001c0001t0086g0202	2	220	0.0091	239	c.-50 others(250): Show c.-5020_-5019insTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGT CTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCT CTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCT CTCCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTC TCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCT CTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4912		chrX	TogoVar
SIGIRR_chr11_400716_419999	402552	G G	GACCCGCT others(232): Show GACCCGCTCACACCCGACCCGCTCACCCCCGGCCCGCTCACCCCCGACCC GCTCACCCCCGGCCCCGCTCACCCGCGGACCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCTCAC CCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCGG ACCCCGCTCACACCCGGCCCCGCTCACCCCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	242	0.0041	239	c.33 others(250): Show c.3343_*3344insGAGCGGGGCGGGGGTGAGCGGGGCCGGGTGTGAG CGGGGTCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCTGGGGTGAGCGGG GCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGTCCGGGGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGGGTGAGCGGGTCCGCGGGTGAGCGGGGCCGGGG GTGAGCGGGTCGGGGGTGAGCGGGCCGGGGGTGAGCGGGTCGGGTGTGAG CGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3163		chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(232): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC GGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	242	0.0041	239	c.-15 others(258): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCTCCCCCGACTGCAT CCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCATCCAGACATGG TCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACATGGTCAGAGCT GGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(232): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC GGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	242	0.0041	239	c.-15 others(258): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCTCCCCCGACTGCAT CCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGCATCCAGACATG GTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACATGGTCAGAGCT GGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2280834	A A	AGACAGGC others(232): Show AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	330	0.0030	239	c.970 others(258): Show c.970-22135_970-22134insTGGCGGAGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAGGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281924	C C	CGGAGATC others(232): Show CGGAGATCTTCATAGAGAGAGATGCCCGAGAAGACAGGTGGTGGCGGAGA TCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	330	0.0030	239	c.970 others(258): Show c.970-21043_970-21042insTAGAGAGAGATGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATC TTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAG AGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTG GTGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(232): Show GAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0024 a0002c0012t0024	a0002c0012t0024g0073 a0002c0012t0024g0073	1	118	0.0085	239	c.224 others(258): Show c.2241+3109_2241+3110insGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCAC TGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATACCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATACCCG TGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(232): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	118	0.0085	239	c.224 others(256): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTG TGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(232): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0019 a0004c0011t0019	a0004c0011t0019g0218 a0004c0011t0019g0218	1	410	0.0024	239	c.-14 others(250): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(232): Show CCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGGCGGGGCAGGGGGTGA GCAGGGCCTGGTGGAGGTGGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGG GTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGG GGGGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGGCCA GGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	239	c.45 others(250): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGG CGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGCCAGGGGGTG AGCAGGGCCTGGTGGGTGGAGGTTGGAAGGGGGGGCAGGGGGTGAGCAGG GCCTGGTGGAGGTGGGGGGGGGCAGGGGGTGAGCAGGGCCCGGTGGAGGT TGGGAGGGGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGG CGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(232): Show AAATATAAATATATTATATATATTATATATAAATATAAATATATTGTATA TATTATATATAAATATAAATATATTATATATATTATATATAAAATATAAA TATATTATATATATTATATATAAAATATAAATATATTATATATATTATAT ATAAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0184 a0001c0005t0020g0184	1	346	0.0029	239	c.-70 others(256): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTTATATATAATATATATAATATATTTATATTTTATATATAAT ATATATAATATATTTATATTTTATATATAATATATATAATATATTTATAT TTATATATAATATATACAATATATTTATATTTATATATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGCGAGA others(232): Show GAGCGAGAGAGACCGTGAGGCAGAGAGACGAGAGATGCGAGAGAGAGAGA CGGGAGAGCGGGAGAGAGCGAGACCGTGGAGAGAGAGCGAGAGAGAGCGA GAGACCCGTGGCGAGAGAGAGAGAGAGAGAGAGAGCGAGAGAGAGAGGGA GCGCAGGGCGCAGCGGGAGCGCAGGGGCGAGCGGAGCGCGGGCCCGAGCC GGGAGCCGCGGTGACGGAGAGGCGGGAGGAGGGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0028 a0001c0014t0028	a0001c0014t0028g0030 a0001c0014t0028g0030	1	188	0.0053	239	c.80 others(250): Show c.8049_*8050insTCCCTCTCCCTCCTCCCGCCTCTCCGTCACCGCG GCTCCCGGCTCGGGCCCGCGCTCCGCTCGCCCCTGCGCTCCCGCTGCGCC CTGCGCTCCCTCTCTCTCTCGCTCTCTCTCTCTCTCTCTCTCTCGCCACG GGTCTCTCGCTCTCTCTCGCTCTCTCTCCACGGTCTCGCTCTCTCCCGCT CTCCCGTCTCTCTCTCTCGCATCTCTCGTCTCTCTGCCTCACGGTCTCTC TCGCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29558351	G G	GGGGGAGA others(232): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTG AGGGGGGAGTGAATGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAA TGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0219 a0001c0004t0006g0219	1	330	0.0030	239	c.-11 others(258): Show c.-114-4492_-114-4491insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTC CCCCCTCACTCACATTCACTCCCCCCTCATTCAGATTCACTCCCCCTCAC ATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCATTCAGATTCACTC CCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTC ACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(232): Show ATATATATAAATATATAATATTTATATATTATATATATAATATATAATAT TTATATATTATATATATAAATATATAATATTTATATATTATATATATAAA TATATAATATTTATATATTATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTATATATATAAATATATAATAT TTATATATATTATATATAAATATATAATATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	309	0.0032	239	c.-32 others(250): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATATAATATATATAAATATTATATATT TATATATATAATATATAAATATTATATATTTATATATAATATATAAATAT TATATATTTATATATATAATATATAAATATTATATATTTATATATATAAT ATATAAATATTATATATTATATATATAATATATAAATATTATATATTTAT ATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(232): Show ATAATAATATATATATTATATATATATTATTATATATATTATATATATAA TAATATATATATTATATATATATTATATATAATATATAATATATATATTA TATATATAATATATAGTATATATATTATATATATTATATAATATATATAT TATATTATATTATATAATATATATATTATATATAATATATATATTATATA TATTATATATATTATATTATATATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	86	0.0116	239	c.107 others(260): Show c.1071-29012_1071-29011insTAATAATATATATATTATATATAT ATTATTATATATATTATATATATAATAATATATATATTATATATATATTA TATATAATATATAATATATATATTATATATATAATATATAGTATATATAT TATATATATTATATAATATATATATTATATTATATTATATAATATATATA TTATATATAATATATATATTATATATATTATATATATTATATTATATATA TTATATATAATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(232): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAAGGGGG AGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGA GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGGAGG GGGAAGGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03130.hp2 NA18906.hp1 HG02622.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037	3	251	0.0120	239	c.35 others(248): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCCT TCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCTCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCT CCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852540	C C	CCCATGGC others(232): Show CCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCT TCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	356	0.0028	239	c.646 others(256): Show c.646-1744_646-1743insATGGCCCATCTTCCATCCTCCCCCAACC CCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCC CATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCAT CTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCT CCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACC CCCCATATTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCG others(232): Show CTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATC TTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0052 a0005c0007t0002g0052	1	356	0.0028	239	c.646 others(256): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCCCAACCCCC CAGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(232): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	260	0.0039	239	c.138 others(258): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCTTCCCCTCC CCTCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(232): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0011 a0004c0005t0001g0011	1	260	0.0039	239	c.138 others(258): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCC CCTCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(232): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	268	0.0037	239	c.71 others(250): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(232): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATAATATAACTATATATTATATATAATATATA TATTATATATAATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02886.hp1 others(5): Show HG02280.hp1 HG02622.hp1 HG02886.hp1 HG03041.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0007 a0001c0001t0001 a0001c0001t0005 a0001c0002t0007	a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0001g0215 others(5): Show a0001c0001t0001g0177 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0005g0077 a0001c0002t0007g0104 a0001c0002t0007g0160	8	268	0.0299	239	c.73 others(250): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TARBP1_chr1_234386313_234484179	234397813	G G	GGGAGAAG others(232): Show GGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGG GAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGG AGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGG GTAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAG GTGGAGGGGAGGAGGGGGAGGGGGAGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	274	0.0037	239	c.424 others(256): Show c.4243+568_4243+569insTCCCCTCCCCCTCCCTCCCCCTCCCCCT CCTCCCCTCCACCTCCTCCCCCTCTTCCCCCTCCCCTCCCTCCTCCCGTC CCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCTTCACC CTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCCTCTTCCCCCTCCCCC TCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTTCCCCCACCTCCTCCCCC TCCCCTTCTCC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D2B_chr15_77989985_78082711	77992793	C C	CCCCACTC others(232): Show CCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCC CCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCACTCC CCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCCCC CACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCC CCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0183 a0001c0001t0018g0183	1	280	0.0036	239	c.53 others(250): Show c.5366_*5367insTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGG GAGTGGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGG GGAGTGGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAG TGGGGGGGAGTGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGA GTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGA GTGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2191		chr15	TogoVar
TCF3_chr19_1604292_1657615	1628386	A A	ACTCACGG others(232): Show ACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGGGG CGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGATGGGGCGGGAAGGGGACAGAAGAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18970.hp1 NA19070.hp2 NA18950.hp1 NA18970.hp1 NA19070.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0002 a0003c0006t0080 a0003c0006t0001 a0003c0006t0002 a0003c0006t0080	a0003c0006t0001g0119 a0003c0006t0002g0120 a0003c0006t0080g0296 a0003c0006t0001g0119 a0003c0006t0002g0120 a0003c0006t0080g0296	3	352	0.0085	239	c.299 others(254): Show c.299-961_299-960insCTCTTCTGTCCCCTTCCCGCCCCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTTCTGT CCCCTTCCCGCCCCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(232): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0276 a0001c0003t0002g0276	1	352	0.0028	239	c.299 others(256): Show c.299-1312_299-1311insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628979	A A	AGGCGGGA others(232): Show AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACAGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGG GGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0091 a0001c0004t0003g0091	1	352	0.0028	239	c.299 others(256): Show c.299-1554_299-1553insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCCCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCC TTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(232): Show CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGG ACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATG GGGATGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAG GGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0067 a0003c0006t0067	a0003c0006t0067g0130 a0003c0006t0067g0130	1	352	0.0028	239	c.299 others(256): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

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