JoGo: Joint Open Genome and Omics Platform

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
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(397): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCC CCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0233 a0001c0001t0042g0233	1	326	0.0031	404	c.433 others(421): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGGAGGGTGGGAGGGGAGGG GAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(397): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA21309.hp1 HG01884.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0217 a0001c0001t0014g0218	2	378	0.0053	404	c.-14 others(421): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(397): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGA GGGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0219 a0001c0001t0014g0219	1	378	0.0027	404	c.-14 others(421): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OBI1_chr13_78609289_78664155	78659294	T T	TAGAAAGA others(397): Show TAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG00741.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0083 a0001c0001t0001g0108	2	296	0.0068	404	c.-17 others(413): Show c.-175_-174insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		140		chr13	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(397): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACACATATAACATGTATTACATATATGTAATACACAT ATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	400	0.0025	404	c.70 others(415): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATTACATATATGTAATACA TATATAACATGTATTACATATATGTAATACACATATAACATGTATTACAT ATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(397): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTGTTACATATATAACATATATGTATTACATATATGTGTTACATATATA ACATATATGTATTACATATATGTGTTACATATATAACATATATGTATTAC ATATATGTGTTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	404	c.70 others(415): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTGTTACATATATAACATATATGTATTACATATA TGTGTTACATATATAACATATATGTATTACATATATGTGTTACATATATA ACATATATGTATTACATATATGTGTTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAACATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(397): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	404	c.-26 others(415): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(397): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	404	c.-26 others(415): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(397): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	404	c.-26 others(415): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(397): Show TGCGTCACCTCCCTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCTGT CACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACAC ACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCTGCACACACCTGCGTCACCTCCCTACCCCCGCA CACAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	216	0.0046	404	c.106 others(421): Show c.1069-507_1069-506insGCGTCACCTCCCTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCAT CACCTCCGTACCCCCGCACACACCTGTGTCACCTCCATACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCTGCACACACCTG CGTCACCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(397): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	216	0.0046	404	c.106 others(421): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(397): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0033 a0001c0011t0001g0033	1	216	0.0046	404	c.106 others(421): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCG TCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CAACCCCG others(397): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACT CCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0146 a0001c0007t0001g0146	1	422	0.0024	404	c.29 others(415): Show c.2901_*2902insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGG GAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(397): Show AGGGGGATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGGGGGGGGACGGGGGGGACGGGGGGGGACGCGGGGGAC GCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGCGGGGGGGGACGCGGG GGACGCGGGGGACGCGGGGGGCGGGGGGGACGGGGGGACGCGGGGGACGC GGGGGACGCGGGGGGCGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGG GCGGGGGGGACGGGGGGACGGGGGGGACGGGGGGACGGGGGGGGACGCGG GGGGCGGGGCGGACGGGGGGACGGGGGGGGACGCGGGGGACGGGGGGGAC GCGGGGGGCGGGGGGGGACGGGGGGACGGGGGGGACGCGGGGGGCGGGGC GGACG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	188	0.0053	404	c.147 others(421): Show c.1474-959_1474-958insCGTCCGCCCCGCCCCCCGCGTCCCCCCC GTCCCCCCGTCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCCGTCCCCCCGTCCGCCCCGCCCCCCGCGTCCCCCCCCGTCCCCCCG TCCCCCCCGTCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCGCGTCCCCC GCGTCCCCCCCGCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCGTCC CCCCCGCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCCGCCCCCCC GTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCCGTCC CCCCCGTCCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCC CGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517880	A A	ACACTCAC others(397): Show ACACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCA CTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCC CACACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCC ACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATC CCACACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTC CACTCTGTCCACTCCATCCCCACTCACTCACTCCACTCTGCTCACTCCAT CCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTC CACTCTGTCCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCA TCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00642.hp2 others(34): Show HG00099.hp2 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01361.hp1 HG01928.hp2 HG02027.hp2 HG02109.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04115.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0011 a0013 a0014 a0015 a0017 a0020 a0022 a0026	a0001c0001 a0001c0002 a0001c0006 others(15): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0008 a0003c0021 a0003c0022 a0003c0026 a0004c0007 a0004c0054 a0011c0011 a0013c0023 a0014c0020 a0015c0041 a0017c0029 a0020c0055 a0022c0053 a0026c0045	a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0003 a0002c0003t0001 a0003c0008t0001 a0003c0021t0001 a0003c0022t0001 a0003c0026t0001 a0004c0007t0002 a0004c0054t0002 a0011c0011t0001 a0013c0023t0001 a0014c0020t0001 a0015c0041t0001 a0017c0029t0001 a0020c0055t0001 a0022c0053t0001 a0026c0045t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 others(34): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0150 a0001c0002t0001g0090 a0001c0002t0001g0114 a0001c0002t0001g0131 a0001c0002t0001g0144 a0001c0006t0003g0098 a0001c0006t0003g0162 a0001c0006t0003g0169 a0002c0003t0001g0072 a0003c0008t0001g0014 a0003c0008t0001g0159 a0003c0021t0001g0125 a0003c0021t0001g0126 a0003c0022t0001g0185 a0003c0026t0001g0012 a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0054t0002g0132 a0011c0011t0001g0054 a0011c0011t0001g0070 a0011c0011t0001g0071 a0013c0023t0001g0174 a0013c0023t0001g0178 a0014c0020t0001g0020 a0014c0020t0001g0022 a0015c0041t0001g0063 a0017c0029t0001g0172 a0020c0055t0001g0177 a0022c0053t0001g0154 a0026c0045t0001g0069	37	188	0.1968	404	c.108 others(423): Show c.1084+2036_1084+2037insAGGGATGGAGTGGACAGAGTGGAGTG AGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGA GTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGT GAGTGAGTGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGG AGTGGACAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAG TGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATG GAGTGGACAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGA GTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGAT GGAGTGGACAGAGTGGAGTGAGTGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517880	A A	ACACTCAC others(397): Show ACACTCACTCACTCGACTCTGTCCACTCCATCCCTCACTCACTCACTCCA CTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCC CACACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCC ACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATC CCACACTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTC CACTCTGTCCACTCCATCCCCACTCACTCACTCCACTCTGCTCACTCCAT CCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTC CACTCTGTCCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCA TCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03209.hp2 others(1): Show HG02280.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp2	a0008 a0012 a0018 a0008 a0012 a0018	a0008c0014 a0008c0031 a0012c0015 others(1): Show a0008c0014 a0008c0031 a0012c0015 a0018c0030	a0008c0014t0001 a0008c0031t0001 a0012c0015t0001 others(1): Show a0008c0014t0001 a0008c0031t0001 a0012c0015t0001 a0018c0030t0001	a0008c0014t0001g0163 a0008c0031t0001g0124 a0012c0015t0001g0168 others(1): Show a0008c0014t0001g0163 a0008c0031t0001g0124 a0012c0015t0001g0168 a0018c0030t0001g0156	4	188	0.0213	404	c.108 others(423): Show c.1084+2036_1084+2037insAGGGATGGAGTGGACAGAGTGGAGTG AGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGA GTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGT GAGTGAGTGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGG AGTGGACAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAG TGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATG GAGTGGACAGAGTGGAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGA GTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGAT GGAGTGGACAGAGTCGAGTGAGTGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(397): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0249 a0002c0002t0009g0249	1	312	0.0032	404	c.306 others(423): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(397): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGC TTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGC CTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTG AGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACAT ATTAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	64	0.0156	404	c.479 others(423): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGC GTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAG GCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAA GTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATT TATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(397): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGC TTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGC CTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTG AGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACAT ATTAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	64	0.0156	404	c.479 others(423): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGC GTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAG GCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAA GTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATT TATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(397): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGC TTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGC CTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTG AGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACAT ATTAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	64	0.0156	404	c.479 others(423): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGC GTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCA GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAG GCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAA GTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATT TATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(397): Show CGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGC CCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCC GTCCG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	326	0.0031	404	c.106 others(423): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(397): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACAGGTCCACACACAGGCCCACACACATCCACACACACAGGTCCACA CATATCCACACACACAGGTCCACACATATACACATACACAGTTCCACACA CAACCACACACAGGTCCACACACATCCACATACAGGTCCATGCACATACA CACACAGGTCCACACACATACACATACACAGTTCCACACACATCCACACA CAAGTCCACACACATCCACACGCACGTCCACGCATCCACACACAGGTCCA CACAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0086 a0010c0009t0001g0086	1	122	0.0082	404	c.165 others(423): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGACCTGTGTGTGTGTGTGTGTGTGTGTGGAT GTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGTGTGGATGTGC GTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGTGTGG GCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RABL6_chr9_136802948_136846187	136803147	T T	TGGGGGCC others(397): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	330	0.0030	404	c.-50 others(415): Show c.-5050_-5049insGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4800		chr9	TogoVar
RASSF2_chr20_4775023_4828608	4798765	G G	GCAGTGAG others(397): Show GCAGTGAGCTGAGATCATTCCACTGCACTCCAGCCTGGGTGACAGAGTGA AACTCTGTCTCAGAAAAAAAATAAAAGACTCGAAGCTTCCAGGCTGTTCA GAAGTGAAATGAGACAGGTTTGAGCCACACTAACTTATGCTTCATAGACA TGACCTTATCATGTGTTTAAAAACTTGTGGCTGGGAGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATTGCCTGAAGTT AGGAATTTGAGACCAGTCTGACCAACATGGTGAAACCCATCTCTACTAAA AATACAAAAAAAAAATTTAGCCAGGCATGGTGGCGTGCACCTGTAATCCC AGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGA GGTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(60): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG02132.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03516.hp1 HG03927.hp1 HG04115.hp2 HG06807.hp1 NA18747.hp1 NA18954.hp1 NA18957.hp2 NA18964.hp2 NA18972.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0043 a0001c0001t0053 a0001c0001t0055 a0001c0001t0063 a0001c0001t0075 a0001c0003t0003 a0001c0003t0054 a0001c0003t0056	a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0180 others(51): Show a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0180 a0001c0001t0001g0380 a0001c0001t0002g0097 a0001c0001t0003g0021 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0250 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0323 a0001c0001t0003g0384 a0001c0001t0004g0040 a0001c0001t0005g0016 a0001c0001t0005g0168 a0001c0001t0005g0362 a0001c0001t0006g0150 a0001c0001t0010g0119 a0001c0001t0013g0029 a0001c0001t0013g0100 a0001c0001t0013g0321 a0001c0001t0013g0328 a0001c0001t0015g0003 a0001c0001t0015g0316 a0001c0001t0019g0173 a0001c0001t0021g0014 a0001c0001t0043g0075 a0001c0001t0053g0110 a0001c0001t0055g0304 a0001c0001t0063g0219 a0001c0001t0075g0088 a0001c0003t0003g0001 a0001c0003t0003g0022 a0001c0003t0003g0209 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0221 a0001c0003t0003g0223 a0001c0003t0003g0385 a0001c0003t0054g0273 a0001c0003t0056g0222	63	430	0.1465	404	c.60- others(417): Show c.60-681_60-680insGAACCTCCACCTCCCGGGTTCATGCCATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCATGCC TGGCTAAATTTTTTTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTT GGTCAGACTGGTCTCAAATTCCTAACTTCAGGCAATCTGCCCATCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGCCACAAG TTTTTAAACACATGATAAGGTCATGTCTATGAAGCATAAGTTAGTGTGGC TCAAACCTGTCTCATTTCACTTCTGAACAGCCTGGAAGCTTCGAGTCTTT TATTTTTTTTCTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCA GTGGAATGATCTCAGCTCACTG	RASSF2	ENSG00000101265.16	transcript	ENST00000379400.8	protein_coding	3/11			chr20	TogoVar
RASSF2_chr20_4775023_4828608	4798765	G G	GCAGTGAG others(397): Show GCAGTGAGCTGAGATCATTCCACTGCACTCCAGCCTGGGTGACAGAGTGA AACTCTGTCTCAGAAAAAAAATAAAAGACTCGAAGCTTCCAGGCTGTTCA GAAGTGAAATGAGACAGGTTTGAGCCACACTAACTTATGCTTCATAGACA TGACCTTATCATGTGTTTAAAAACTTGTGGCTGGGAGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATTGCCTGAAGTT AGGAATTTGAGACCAGTCTGACCAACATGGTGAAACCCATCTCTACTAAA AATACAAAAAAAAAATTTAGCCAGGCATGGTGGCGTGCACCTGTAATCCC AGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAATCCGGGAGGTGGA GGTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0084 a0001c0001t0052g0084	1	430	0.0023	404	c.60- others(417): Show c.60-681_60-680insGAACCTCCACCTCCCGGATTCATGCCATTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACGCCACCATGCC TGGCTAAATTTTTTTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTT GGTCAGACTGGTCTCAAATTCCTAACTTCAGGCAATCTGCCCATCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGCCACAAG TTTTTAAACACATGATAAGGTCATGTCTATGAAGCATAAGTTAGTGTGGC TCAAACCTGTCTCATTTCACTTCTGAACAGCCTGGAAGCTTCGAGTCTTT TATTTTTTTTCTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCA GTGGAATGATCTCAGCTCACTG	RASSF2	ENSG00000101265.16	transcript	ENST00000379400.8	protein_coding	3/11			chr20	TogoVar
RASSF2_chr20_4775023_4828608	4798765	G G	GCAGTGAG others(397): Show GCAGTGAGCTGAGATCATTCCACTGCACTCCAGCCTGGGTGACAGAGTGA AACTCTGTCTCAGAAAAAAAATAAAAGACTCGAAGCTTCCAGGCTGTTCA GAAGTGAAATGAGACAGGTTTGAGCCACACTAACTTATGCTTCATAGACA TGACCTTATCATGTGTTTAAAAACTTGTGGCTGGGAGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATTGCCTGAAGTT AGGAATTTGAGACCAGTCTGACCAACATGGTGAAACCCATCTCTACTAAA AATACAAAAAAAAAATTTAGCCAGGCATGGTGGCGTGCACCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGA GGTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02622.hp1 others(5): Show HG01891.hp2 HG02257.hp1 HG02622.hp1 HG02970.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0061 a0001c0001t0010 a0001c0001t0014 a0001c0001t0061	a0001c0001t0010g0015 a0001c0001t0010g0104 a0001c0001t0010g0117 others(4): Show a0001c0001t0010g0015 a0001c0001t0010g0104 a0001c0001t0010g0117 a0001c0001t0010g0125 a0001c0001t0010g0161 a0001c0001t0014g0166 a0001c0001t0061g0158	8	430	0.0186	404	c.60- others(417): Show c.60-681_60-680insGAACCTCCACCTCCCGGGTTCATGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCATGCC TGGCTAAATTTTTTTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTT GGTCAGACTGGTCTCAAATTCCTAACTTCAGGCAATCTGCCCATCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGCCACAAG TTTTTAAACACATGATAAGGTCATGTCTATGAAGCATAAGTTAGTGTGGC TCAAACCTGTCTCATTTCACTTCTGAACAGCCTGGAAGCTTCGAGTCTTT TATTTTTTTTCTGAGACAGAGTTTCACTCTGTCACCCAGGCTGGAGTGCA GTGGAATGATCTCAGCTCACTG	RASSF2	ENSG00000101265.16	transcript	ENST00000379400.8	protein_coding	3/11			chr20	TogoVar
RBPMS_chr8_30379541_30577256	30388408	T T	TATAGCTA others(397): Show TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTAGAGCTATAGCTATAAGCTAACTTATAGCTAT AGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAG CTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	304	0.0033	404	c.66+ others(419): Show c.66+3468_66+3469insGAGCTATAGCTATAAGCTAACTTATAGCTA TAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATA GCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGAGGAGGGGGGAGGA GGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGGG AGGAGGGAGGAGGGGAGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGGAGGGGGAGGAGGGGAGAGGGAGGGAGGGAGGAGGAGGGGA AGGGGGAGGGAGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGA GGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0138 a0001c0001t0014g0138	1	318	0.0031	404	c.36 others(415): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGG GAGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGG GAGGAGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGAGAGGGGGAGGGGG AGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGA GGGGAGGGGGAGGAGGGGAAGGGGGAGGGGGAGGAGGGGAGAGGGAGGGA GGGAGGAGGAGGGGAAGGGGGAGGGAGGGAGGAGGGGAAGGGGAGGGGGA GGGGGGGAGGAGGGAGGGCG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02896.hp2 HG02922.hp1 HG01884.hp2 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0135 a0001c0001t0001g0034 a0001c0001t0001g0135	3	318	0.0094	404	c.36 others(415): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	404	c.36 others(415): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(397): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGGGGAGGAGGGGAGGGG GGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGA GGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	404	c.36 others(415): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(397): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTA TGTGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTGTA CACATACATACGTATGTATGTGTACACATACATATGTATGTATGTGTACA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	404	c.-23 others(415): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACAC ATACATACGTATGTGTACACATACATACGTATGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTATGTATACACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACATATGTATGCATACACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(397): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATA CGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CATATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACG TATGTATGTGTACACATACATACGTATGTATGTGTATACATACGTATGTA TGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	404	c.-24 others(415): Show c.-2426_-2425insACACATACATACGTATGTATACACATACATACGT ATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGTAT GTATGTGTACACATACATATGTATGTGTACACATACATACGTATGTATGT GTACACATACATACGTATGTATGTATACACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(397): Show ACCCGGCCGGGGGGGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGGC CCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGG CGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCCCCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC CTCGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	40	0.0250	404	c.72+ others(415): Show c.72+49_72+50insGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCC CGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC GGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCCCCGG CCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC CCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCCTCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(397): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACA AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGG GGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00733.hp2 others(24): Show HG00099.hp1 HG00621.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01358.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02602.hp1 HG02647.hp2 HG02735.hp2 HG03139.hp1 HG03195.hp1 HG04115.hp2 HG06807.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp2 NA18966.hp1 NA19000.hp2 NA19043.hp1 NA19070.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0016 others(4): Show a0001 a0002 a0016 a0017 a0018 a0019 a0020	a0001c0002 a0001c0004 a0001c0006 others(7): Show a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0002c0029 a0016c0043 a0017c0042 a0018c0040 a0019c0044 a0020c0037	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0002c0029t0001 a0016c0043t0001 a0017c0042t0001 a0018c0040t0001 a0019c0044t0001 a0020c0037t0001	a0001c0002t0001g0003 a0001c0002t0001g0164 a0001c0002t0001g0173 others(23): Show a0001c0002t0001g0003 a0001c0002t0001g0164 a0001c0002t0001g0173 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0242 a0001c0004t0001g0171 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0150 a0001c0006t0001g0161 a0001c0006t0001g0181 a0001c0006t0001g0186 a0001c0006t0001g0187 a0001c0010t0001g0001 a0001c0010t0001g0176 a0001c0010t0001g0177 a0001c0010t0001g0179 a0001c0010t0001g0199 a0002c0029t0001g0239 a0016c0043t0001g0163 a0017c0042t0001g0195 a0018c0040t0001g0178 a0019c0044t0001g0189 a0020c0037t0001g0257	27	312	0.0865	404	c.188 others(423): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPS6KA2_chr6_166404364_166632251	166416035	T T	TCACCACC others(397): Show TCACCACCTCCACCATCACCCTCACCATCCTCCTCCATCACCCCCACCAT TACGCTCACCATGATCCTCACCATCTCCACCATCACCCTCACCATCCTTC CTCCATCACCTCCACCATCCACCCTCACCATCCTTCATCACCCCCACCAT CACCCTCACCATCATCTTCACCATCACTGTCCCCATCATCTTCATCACCA CTTCCATCACCCTAGCCATCCTTCCTCCATCATCTCCACCATCACCCTTG CCATCATCTTCACTACCACCTCCACCATCACCCTCGCCATCCTTTCTCCA TCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATC ACCCTCGCCATCCTTTCTCCATCAACTCCACCATCACCCTCGCCATCATC TTCAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG03130.hp1 HG02723.hp2 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0019 a0001c0004 a0001c0013 a0001c0019	a0001c0004t0010 a0001c0013t0010 a0001c0019t0031 a0001c0004t0010 a0001c0013t0010 a0001c0019t0031	a0001c0004t0010g0160 a0001c0013t0010g0155 a0001c0019t0031g0235 a0001c0004t0010g0160 a0001c0013t0010g0155 a0001c0019t0031g0235	3	244	0.0123	404	c.193 others(423): Show c.1939-2105_1939-2104insGTGAAGATGATGGCGAGGGTGATGGT GGAGTTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAA GATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGT GATGGTGGAGGTGGTAGTGAAGATGATGGCAAGGGTGATGGTGGAGATGA TGGAGGAAGGATGGCTAGGGTGATGGAAGTGGTGATGAAGATGATGGGGA CAGTGATGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGAT GGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATGG TGGAGATGGTGAGGATCATGGTGAGCGTAATGGTGGGGGTGATGGAGGAG GATGGTGAGGGTGATGGTGGAGGTGGTG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATTAA others(397): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACGTACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATGTATAAATACGTACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	232	0.0043	404	c.43 others(415): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATGTATAAATATGTACGTATTTATACAT ATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTAC GTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATAT GTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTAT TTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTAT AAATATGTATGTATTTATACATATATATGTATAAATATGTATGTATACAT ATATGTATAAATATGTATGTATTTATACATATATGTATTAATACGTATTT ATACATATATGTATTAATAC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1289181	T T	TCCGTCCC others(397): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0048 a0017c0029t0001g0048	1	290	0.0035	404	c.166 others(423): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934328	C C	CATATATA others(397): Show CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATATTCCATATATATAT ATTCCATATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0215 a0007c0010t0001g0215	1	324	0.0031	404	c.115 others(421): Show c.115-2558_115-2557insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATATATGGAATATATATATATGGAATATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(397): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp1 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0052 a0001c0003t0015g0078 a0001c0001t0001g0052 a0001c0003t0015g0078	2	370	0.0054	404	c.-30 others(423): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SLC25A32_chr8_103393638_103420107	103407948	T T	TATATATA others(397): Show TATATATATAAATATATATATATTACATATATATATAAATATATATCTTA CATATATATAAATATATATCTTACATATATATAAATATATATATATTACA TATATATAAATATATATATATTACATATATATATAAATATATATATATTA CATATATATAAATATATATATTACATATATATATAAATATATATATATTA CATATATATATAAATATATATATTACATATATATATAAATATATATATAT TACATATATATAAATATATATATATTACATATATATAAATATATATATAT TACATATATATAAATATATATATATTACATATATATATAAATATATATAT ATTACATATATATAAATATATATATATTACATATATATATAAATATATAT ATTAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	356	0.0028	404	c.155 others(419): Show c.155-165_155-164insGTAATATATATATTTATATATATATGTAAT ATATATATATTTATATATATGTAATATATATATATTTATATATATATGTA ATATATATATATTTATATATATGTAATATATATATATTTATATATATGTA ATATATATATATTTATATATATGTAATATATATATATTTATATATATATG TAATATATATATTTATATATATATGTAATATATATATATTTATATATATA TGTAATATATATATTTATATATATGTAATATATATATATTTATATATATA TGTAATATATATATATTTATATATATGTAATATATATATATTTATATATA TGTAAGATATATATTTATATATATGTAAGATATATATTTATATATATATG TAATATATATATATTTATATATAT	SLC25A32	ENSG00000164933.13	transcript	ENST00000297578.9	protein_coding	1/6			chr8	TogoVar
SMYD3_chr1_245744347_246512279	246243400	A A	ACATAGTG others(397): Show ACATAGTGAGCCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCAGACTGCAGTGG TGCAATCTCAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATAGTGAGCCC TTTCTATCTGAAGAATTATAAGGCTTTTTTCAGCTTTGTGAATAATGCTT TTATT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0074 a0001c0012t0002g0074	1	150	0.0067	404	c.531 others(423): Show c.531+83800_531+83801insAATAAAAGCATTATTCACAAAGCTGA AAAAAGCCTTATAATTCTTCAGATAGAAAGGGCTCACTATGGCCGGGCGC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCTGAGATTGCACCACTGCAGTCTGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAGGGCTCACTATG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827234	C C	CATATATT others(397): Show CATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATAAAATA TATTATAGTTTATATAATATATACATATATATTATAGTTTATATAATATA TACAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	302	0.0033	404	c.12+ others(419): Show c.12+3822_12+3823insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACATATATATTATAGTTTATATAATATATACATATATATTATA GTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(397): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGG AGGGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	260	0.0039	404	c.138 others(423): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCCCTCC CCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCC CCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(397): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGA GGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGG GGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAG GGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGGGAGAGAGAGGG GGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0106 a0001c0004t0106	a0001c0004t0106g0078 a0001c0004t0106g0078	1	276	0.0036	404	c.-18 others(423): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(397): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGGAGG GGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGGGGGGGGGAGAGAGAGGG GGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0025 a0001c0003t0008g0025	1	276	0.0036	404	c.-18 others(423): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCCCT CTCCCCCCTCCCTCCCCCTCTCTCCCCCCCCTCCCCCCTCTCTCCCCCTC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCT CTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCC CTCTCTCTCCCCCTCCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(397): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAG GGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAG AGAGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0017 a0001c0002t0005g0017	1	276	0.0036	404	c.-18 others(423): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(397): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAGG GAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAG AGAGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0081 a0001c0003t0081	a0001c0003t0081g0276 a0001c0003t0081g0276	1	276	0.0036	404	c.-18 others(423): Show c.-18+37479_-18+37480insTCTCTCTCTCTCCCTCCCTCCCTCCC TCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCT CTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCC CTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCC CTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCTC CCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(397): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACCAGAGACGAG ACACCAAAACCCACACAACCGACACCCACCCAAGAGGAGACACCAAACCC ACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAGGAAACA CCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCTACCAGA GAGGAGACACCAAAACCCACATCCACCTGAGAGGAGACACCAAACCCACA CCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0193 a0001c0004t0007g0193	1	314	0.0032	404	c.309 others(423): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGGGTGTCTCCTCTCGGG TGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCTCCGGTGGGTTGTGGG TTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTCGGGTG GGGTGTGAGTTTGGTGTCTCCTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(397): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACACACATATATATGTATACACACACACATATATATG TATACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0066 a0004c0005t0001g0066	1	112	0.0089	404	c.62+ others(419): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACACACATATATATGTATA CACACACACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)