Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(198): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCCCCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02071.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0251 a0001c0001t0018g0080 a0001c0001t0007g0251 a0001c0001t0018g0080	2	268	0.0075	205	c.209 others(222): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCCCCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL19A1_chr6_69861556_70217468	69921459	A A	ATCATATA others(198): Show ATCATATATATCATATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATATCATATATATCATATATCATATATATCAT ATATATTCATATATTCATATATATCATATATATTCATATATTCATATATA TTCATATATTCATATATATTCATATATATCATATATATTCATATATTCAT ATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	182	0.0055	205	c.267 others(222): Show c.267-6440_267-6439insCATATATATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATATCATATATATCATATATC ATATATATCATATATATTCATATATTCATATATATCATATATATTCATAT ATTCATATATATTCATATATTCATATATATTCATATATATCATATATATT CATATATTCATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(198): Show GGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0098 a0003c0098	a0003c0098t0003 a0003c0098t0003	a0003c0098t0003g0206 a0003c0098t0003g0206	1	344	0.0029	205	c.85- others(222): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCTCCTCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(198): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0003 a0002c0015t0004 a0001c0006t0003 a0002c0015t0004	a0001c0006t0003g0076 a0002c0015t0004g0268 a0001c0006t0003g0076 a0002c0015t0004g0268	2	344	0.0058	205	c.85- others(222): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(198): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00558.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0320 a0002c0002t0002g0265 a0002c0002t0002g0320	2	344	0.0058	205	c.85- others(222): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COLEC11_chr2_3590112_3649644	3591124	A A	AGAGGGGC others(198): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCT CCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCGGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGC CGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp2 others(11): Show HG00140.hp2 HG00733.hp2 HG01081.hp2 HG01361.hp2 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03540.hp2 NA18522.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0005c0011	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0005t0002 a0002c0006t0001 a0005c0011t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0206 a0002c0003t0001g0024 a0002c0005t0002g0018 a0002c0006t0001g0031 a0005c0011t0001g0032	14	378	0.0370	205	c.-40 others(216): Show c.-4071_-4070insGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG TCCTCACTTCCCAGTAGGGGCGGCGGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCCGGCCGGGCG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		3987		chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTC others(198): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAG CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0311 a0002c0004t0002g0311	1	348	0.0029	205	c.928 others(220): Show c.928-697_928-696insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924335	A A	AATCCGGC others(198): Show AATCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACA CTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCCGGCCCCC ACACTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0115 a0009c0010t0001g0115	1	350	0.0029	205	c.489 others(222): Show c.489-1388_489-1387insTCCGGCCCCCACACTGACCCGGCCCCCA CACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCC CCCACACTAATCCGGCCCCCACACTGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924467	A A	ACACTAAC others(198): Show ACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTC CCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0046 a0020c0026t0001g0046	1	350	0.0029	205	c.489 others(222): Show c.489-1257_489-1256insCACTAACCCAGTCCCCACACTAACCCGG CCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCC GGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(198): Show TCCTACCCATGACCCCTACAGTCCCCTACTCACAACCCCTACAGTCTCCT ACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAG CCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTA CAGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18966.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0006c0022 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0001c0015t0003 a0006c0022t0004 a0011c0021t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0001t0004g0159 a0001c0001t0008g0120 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0058 a0001c0015t0003g0081 a0006c0022t0004g0073 a0011c0021t0004g0074	25	159	0.1572	205	c.811 others(222): Show c.811-1792_811-1791insCCTACAGTCCCCTACTCACAACCCCTAC AGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGA CCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTA TTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTG GAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675633	T T	TCCCCACT others(198): Show TCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCC CCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02717.hp1 others(7): Show HG02257.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0002 a0002c0003t0001g0014	10	292	0.0343	205	c.165 others(220): Show c.165+481_165+482insGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGG GGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGG GGAGGGGGAGGGGAGAGGAGTGGGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(198): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp1 others(8): Show HG01884.hp1 HG02451.hp2 HG02615.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0060 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0172 a0001c0001t0002g0186	11	292	0.0377	205	c.165 others(220): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAG GGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(198): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATATTTTTTTT TTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0007 a0001c0002t0036g0007	1	380	0.0026	205	c.-11 others(216): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATATTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(198): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATTTTTTTTTT TTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0007 a0001c0002t0016g0007	1	380	0.0026	205	c.-11 others(216): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCLK2_chr4_150073445_150262438	150251015	T T	TCCCCCTC others(198): Show TCCCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCACATCCCCCACACACCCCCCACACCCCCCAACACCCCC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACATCC CCCACACACCCCCCACACCACACATCCCCCTCACACCCCCCAACACCCCC ACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	116	0.0086	205	c.207 others(224): Show c.2073+1336_2073+1337insTCACACCCCCCAACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCCC ACACCCCCCAACACCCCCACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCACATCCCCCACACACCCCCCACACCACACATCCCCCTC ACACCCCCCAACACCCCCACACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(198): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	404	0.0025	205	c.510 others(220): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AAATATAT others(198): Show AAATATATATATCTATATATATATCTATATATATATATAGATATATATAT AATATATATATCTATATATATATCTATATATATATATAGATATATATATA ATATATATATCTATATATATATAGATATATATATTATATATATATCTATA TATATATATAGATATATATATAATATATATATCTATATATATATAGATAT ATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	324	0.0031	205	c.281 others(220): Show c.281-819_281-818insAATATATATATCTATATATATATCTATATA TATATATAGATATATATATAATATATATATCTATATATATATCTATATAT ATATATAGATATATATATAATATATATATCTATATATATATAGATATATA TATTATATATATATCTATATATATATATAGATATATATATAATATATATA TCTATATATATATAGATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17			chr17	TogoVar
DHX40_chr17_59560610_59613345	59569700	T T	TATATATA others(198): Show TATATATATATCTATATATATATTATAGATATATATATAATATATATATC TATATATATATAGATATATATATAATATATATATCTATAATATATATAGA TATATATATAATATATATATCTATATATATATTATATATATATCTATATA TATTATAGATATATATATAATATATATATCTATATATATATATAGATATA TATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	324	0.0031	205	c.281 others(220): Show c.281-796_281-795insTATAGATATATATATAATATATATATCTAT ATATATATAGATATATATATAATATATATATCTATAATATATATAGATAT ATATATAATATATATATCTATATATATATTATATATATATCTATATATAT TATAGATATATATATAATATATATATCTATATATATATATAGATATATAT ATAATATATATATCTATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2C_chr10_269201_694668	516561	G G	GGTAGGGT others(198): Show GGTAGGGTGGGAGGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGG GGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGACAG GGGGTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	88	0.0114	205	c.86- others(222): Show c.86-30032_86-30031insTACCCCCTGTCCCCCCCACCCTACCCCG TGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCCTCCC ACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCC TACCCCGTCCCCCCCCTCCCACCCTAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516565	A A	AGGTGGAC others(198): Show AGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGTAGG GTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGG GGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGAC ACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGG TAGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	205	c.86- others(222): Show c.86-30036_86-30035insACCCTACCCCCTGTCCCCCCCCACCCTA CCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGT GTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTCCCCCC TCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTA CCCCCTTCCCCTGTCCCACTGTCCACC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516597	G G	GGGGGGAA others(198): Show GGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGA GGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGG GAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGAGGGGAA AGGGGGAAGGGAGGGGAAAGGGGGGAAGGGAGGGGAAAGGGGGGAAGGGA GGGAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	205	c.86- others(222): Show c.86-30068_86-30067insTTTCCCTCCCTTCCCCCCTTTCCCCTCC CTTCCCCCCTTTCCCCTCCCTTCCCCCTTTCCCCTCCTTCCCCCCTTTCC CCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCC CCTTTCCCCTCCCTTCCCCCCTTTCCCCTCCCTTCCCCCCTTTCCCCTCC CTTCCCCCCTTTCCCCTCCCTTCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(198): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATGATATATATGGGAT ATATATATCATATATATATCATATATATGGGATATATATATCATATATAT CATATATATGGGATATATATATCATATATATCATATATATGGGATATATA TATCAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	336	0.0030	205	c.22- others(222): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATATGATATATATATCCCATATATATCATATATAT CATATATATATCATATATATGGGATATATATATCATATATATATCATATA TATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DPEP1_chr16_89608642_89643433	89634769	T T	TCCCTTCC others(198): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	250	0.0040	205	c.105 others(222): Show c.105-1104_105-1103insTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(198): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTTCCTTTTCT TCCTCCCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCCCCCTT CCTTTTCTTCCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCC CCCCTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	396	0.0025	205	c.423 others(220): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCCC TTTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTT CCTCCCCCCTTCCTTTTCTTCCTCCCCCTCTTCTTCCTCTCCCTCTTCCT CCCTCCCTCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTTCCT TTTCTTCCTCCCTCCCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(198): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0001 a0001c0001t0001g0001 a0001c0001t0008g0001	2	432	0.0046	205	c.30 others(216): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGCAGCAGGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675347	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(37): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02630.hp2 HG02735.hp2 HG02965.hp2 HG03239.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18953.hp2 NA19010.hp1 NA19082.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0014 a0002c0002 others(1): Show a0001c0001 a0001c0014 a0002c0002 a0010c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0014t0001 a0002c0002t0004 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0005g0001 a0001c0001t0005g0017 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0008g0001 a0001c0014t0001g0020 a0002c0002t0004g0005 a0010c0012t0001g0002	40	432	0.0926	205	c.30 others(216): Show c.3061_*3062insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2670		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA20905.hp2 HG02922.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0009 a0002c0002t0004 a0002c0002t0009	a0002c0002t0004g0005 a0002c0002t0009g0038 a0002c0002t0004g0005 a0002c0002t0009g0038	2	432	0.0046	205	c.31 others(216): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(198): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0046 a0002c0002t0004g0046	1	432	0.0023	205	c.31 others(216): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(198): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATATATTATGTATAATATATATATAATAT ATTATACATAATATATAATATATATTACGTAATATATTACATATATTATA TATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	312	0.0032	205	c.-37 others(216): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATTATATATATATTATACATAATATA TATATTATATATTATATATTATGTATAATATATAATATATAATATATTAT ATATTACATATAATATATTATATGTAATATATAACATATATTACATAATA TATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
ELP5_chr17_7247215_7264937	7257617	T T	TTTTTTTT others(198): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	412	0.0024	205	c.591 others(220): Show c.591+579_591+580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTTGTATTTTTA	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	5/7			chr17	TogoVar
EML5_chr14_88607431_88797953	88608210	T T	TACCCTGC others(198): Show TACCCTGCAAGTGAATACCATCCCCATCTCACCCTGCAAGTGAATACCAT CCCCATCTCACCCTGCAAGTGAATACCATCCCCCATCTCACCCTGCAAGT GAATACCATCCCCATCTCATCCTGCAAGTGAATACCATCCCCATCTCACC CTGCAAGTGAATACCATCCCCATCTCACCCTGCAAGTGAATACCATCCCC CATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG00280.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0156 a0001c0001t0029g0157 a0001c0001t0002g0156 a0001c0001t0029g0157	2	332	0.0060	205	c.76 others(216): Show c.7607_*7608insGAGATGGGGGATGGTATTCACTTGCAGGGTGAGA TGGGGATGGTATTCACTTGCAGGGTGAGATGGGGATGGTATTCACTTGCA GGATGAGATGGGGATGGTATTCACTTGCAGGGTGAGATGGGGGATGGTAT TCACTTGCAGGGTGAGATGGGGATGGTATTCACTTGCAGGGTGAGATGGG GATGGTATTCACTTGCAGGGT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4220		chr14	TogoVar
EVA1C_chr21_32407706_32520387	32477756	G G	GCCCTCAC others(198): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCC CCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA21309.hp2 HG02647.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0022 a0001c0023 a0002c0022	a0001c0023t0001 a0002c0022t0002 a0001c0023t0001 a0002c0022t0002	a0001c0023t0001g0110 a0002c0022t0002g0103 a0001c0023t0001g0110 a0002c0022t0002g0103	2	346	0.0058	205	c.634 others(222): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(198): Show TTATATATTATATATAATATATATTATATATATATATATAATATATTATA TATAATATATATATATATATTATATATAATATATTATATATAATATATTA TATATATATTATATATATTATATATAATATATATATAATATATATATATA ATATATTATATATATATATTATATATATAATATATATATAATATATTATA TATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	180	0.0056	205	c.-19 others(224): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATATAATATATTATATATATATATTATATAT ATATTATATATAATATATATAATATATATATAATATATTATATATAATAT ATTATATATAATATATATATATATATTATATATAATATATTATATATATA TATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(198): Show TTATATATTATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATTATATATATATTATATATAATATATTATATATAATATAT TATATATATATTATATATATTATATATAATATATATAATATATATATATA ATATATTATATATATATATTATATATATAATATATATATAATATATTATA TATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	180	0.0056	205	c.-19 others(224): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATATAATATATTATATATATATATTATATAT ATTATATATAATATATATAATATATATATAATATATTATATATAATATAT TATATATAATATATATATAATATATTATATATAATATATTATATATAATA TATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(198): Show TTATATATTATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATTATATATATATTATATATAATATATTATATATAATATAT TATATATATATTATATATATTATATATAATATATATATAATATATATATA TAATATATTATATATATATTATATATATAATATATATATAATATATTATA TATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	180	0.0056	205	c.-19 others(224): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATAATATATTATATATATATATTATATATAT ATTATATATAATATATATAATATATATATAATATATTATATATAATATAT TATATATAATATATATATAATATATTATATATAATATATTATATATAATA TATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(198): Show TTATATATTATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATTATATATATATTATATATAATATATTATATATAATATAT TATATATATTATATATATTATATATAATATATATATAATATATATATATA ATATATTATATATATATATTATATATATAATATATATATAATATATTATA TATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0005 a0001c0001t0002g0015	2	180	0.0111	205	c.-19 others(224): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATATAATATATTATATATATATATTATATAT ATATTATATATAATATATATAATATATATAATATATTATATATAATATAT TATATATAATATATATATAATATATTATATATAATATATTATATATAATA TATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FBN2_chr5_128252909_128543245	128539892	G G	GATCTATC others(198): Show GATCTATCATATATATCATATATCATATATATCATATATATGATAGATCA TATATATCATATATCATATATATCATATATATGATAGATCATATATATCA TATATATGATAGATCATATATATCATATATATGATAGATCATATATATCA TATATCATATATATCATATATATGATAGATCATATATATCATATATCATA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0005 a0002c0059t0005	a0002c0059t0005g0092 a0002c0059t0005g0092	1	236	0.0042	205	c.-22 others(216): Show c.-2290_-2289insGATATATATGATATATGATATATATGATCTATCA TATATATGATATATATGATATATGATATATATGATCTATCATATATATGA TATATATGATCTATCATATATATGATATATATGATCTATCATATATATGA TATATATGATATATGATATATATGATCTATCATATATATGATATATATGA TATATGATATATATGATAGAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1648		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(198): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0139 a0005c0007t0001g0139	1	226	0.0044	205	c.748 others(220): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGFRL1_chr4_1006626_1031898	1026082	C C	CGCAGATA others(198): Show CGCAGATATGCTGCCTGGACACACACACAGATAATGCTGCCTCAACACTC ACACACGTGCAGATATTGCCTGGACACACACATGTGCACAGATATGCTGT CTGGACATGCACACACGTGCAGATATGCTGTCCGGATACACACGCACGCA CACATGCAGATATGCTGCCTGGGCACACACTTCCGGACACACATGCACAC ACAGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(27): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01255.hp2 HG01981.hp1 HG02074.hp2 HG02129.hp1 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG04115.hp2 HG04228.hp2 NA18945.hp1 NA18947.hp2 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19089.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0019 a0001c0001 a0001c0002 a0002c0019	a0001c0001t0036 a0001c0002t0003 a0001c0002t0037 others(2): Show a0001c0001t0036 a0001c0002t0003 a0001c0002t0037 a0001c0002t0038 a0002c0019t0003	a0001c0001t0036g0001 a0001c0002t0003g0003 a0001c0002t0003g0042 others(16): Show a0001c0001t0036g0001 a0001c0002t0003g0003 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0053 a0001c0002t0003g0103 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0037g0044 a0001c0002t0038g0003 a0002c0019t0003g0043	30	414	0.0725	205	c.75 others(214): Show c.759_*963dupACACAGATAATGCTGCCTCAACACTCACACACGTGC AGATATTGCCTGGACACACACATGTGCACAGATATGCTGTCTGGACATGC ACACACGTGCAGATATGCTGTCCGGATACACACGCACGCACACATGCAGA TATGCTGCCTGGGCACACACTTCCGGACACACATGCACACACAGGTGCAG ATATGCTGCCTGGACACAC	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding	7/7	964	INFO_REALIGN_3_PRIME	chr4	TogoVar
FGFRL1_chr4_1006626_1031898	1026198	G G	GTGCAGAT others(198): Show GTGCAGATATGCTGTCCGGATACACACGCACGCACACATGCAGATATGCT GCCTGGGCACACACTTCCGGACACACATGCACACACAGGTGCAGATATGC TGCCTGGACACACACACAGATAATGCTGCCTCAACACTCACACACGTGCA GATATTGCCTGGACACACACATGTGCACAGATATGCTGTCTGGACATGCA CACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 NA18953.hp1 NA18973.hp1 others(4): Show HG02132.hp2 NA18953.hp1 NA18973.hp1 NA18990.hp1 NA19055.hp2 NA19072.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0003 a0001c0002t0007g0043 a0001c0002t0007g0045 others(1): Show a0001c0002t0007g0003 a0001c0002t0007g0043 a0001c0002t0007g0045 a0001c0002t0007g0122	7	414	0.0169	205	c.96 others(214): Show c.963_*964insACACAGATAATGCTGCCTCAACACTCACACACGTGC AGATATTGCCTGGACACACACATGTGCACAGATATGCTGTCTGGACATGC ACACACATGCAGATATGCTGTCCGGATACACACGCACGCACACATGCAGA TATGCTGCCTGGGCACACACTTCCGGACACACATGCACACACAGGTGCAG ATATGCTGCCTGGACACAC	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding	7/7	964	INFO_REALIGN_3_PRIME	chr4	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(198): Show AATATAGAATATATATCATATATAATATATTAAATATATAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA TATAATATATATCATATATAATATATTAAATAAGATATAATATATATCAT ATATAATATATTAAATAATATATAATATATATCATATATAATATATTAAA TAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0300 a0003c0003t0001g0300	1	366	0.0027	205	c.64- others(218): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTATTTAATATATTATATATGATATATATTATATCTTATTTAAT ATATTATATATGATATATATTATATATTTAATATATTATATATGATATAT ATTATATATTTAATATATTATATATGATATATATTATATATTTAATATAT TATATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FOXQ1_chr6_1307098_1319758	1317079	C C	CCCCTCCC others(198): Show CCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTC CCGCCTCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCCACCCATTCCCTCCTCCAGCCTACCCC TCCCCCCACCCATCCCTCCTCCCTCCCCCCTCCAGCCTACCCCTCCCCCC ACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp2 others(27): Show HG00323.hp2 HG00544.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01168.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG02129.hp2 HG02486.hp1 HG02523.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 NA18612.hp1 NA18970.hp1 NA18979.hp2 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19088.hp1 NA20300.hp2 NA20905.hp1	a0004 a0005 a0004 a0005	a0004c0003 a0005c0011 a0004c0003 a0005c0011	a0004c0003t0001 a0004c0003t0005 a0004c0003t0017 others(1): Show a0004c0003t0001 a0004c0003t0005 a0004c0003t0017 a0005c0011t0001	a0004c0003t0001g0000 a0004c0003t0005g0000 a0004c0003t0017g0000 others(1): Show a0004c0003t0001g0000 a0004c0003t0005g0000 a0004c0003t0017g0000 a0005c0011t0001g0000	30	406	0.0739	205	c.31 others(216): Show c.3163_*3164insCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCC GCCCACCCCCTCCTCCCGCCTCCCCCCAGCCTACCCCCTCCCCCCGCCCA CCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATTCCCT CCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCTCCCCCCTCCAG CCTACCCCTCCCCCCACCCAT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2322		chr6	TogoVar
FSTL5_chr4_161378897_162169000	162144964	T T	TTATACAA others(198): Show TTATACAATGAATACAATATATATTCATTGTATGTATATTCATATACAAT GAATACAATATATATTCATTGTATGTATATTCATATACAATGAATACAAT ATATATTCATTGTATGTATATTCATATACAATGAATACAATATATATTCA TTGTATGTATATTCATATACAATGAATACAATATATATTCATTGTATGTA TATTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01123.hp1 others(19): Show HG00140.hp1 HG00642.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01952.hp1 HG02056.hp1 HG02165.hp1 HG02165.hp2 HG02976.hp1 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA18944.hp1 NA18983.hp1 NA19060.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005 a0004c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0022 a0001c0002t0016 a0001c0002t0021 a0002c0004t0004 a0003c0005t0009 a0004c0009t0006	a0001c0001t0003g0108 a0001c0001t0004g0122 a0001c0001t0004g0123 others(19): Show a0001c0001t0003g0108 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0006g0137 a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0020g0132 a0001c0001t0022g0138 a0001c0002t0016g0135 a0001c0002t0021g0134 a0002c0004t0004g0121 a0002c0004t0004g0124 a0003c0005t0009g0125 a0003c0005t0009g0127 a0003c0005t0009g0128 a0004c0009t0006g0140	22	142	0.1549	205	c.-17 others(224): Show c.-17+18650_-17+18651insTGAATATACATACAATGAATATATAT TGTATTCATTGTATATGAATATACATACAATGAATATATATTGTATTCAT TGTATATGAATATACATACAATGAATATATATTGTATTCATTGTATATGA ATATACATACAATGAATATATATTGTATTCATTGTATATGAATATACATA CAATGAATATATATTGTATTCATTGTATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132219738	C C	CGGGTAAG others(198): Show CGGGTAAGGGGAAGGGACACCTCCCCAGGGTGACACCCGCCCGGGTAAGG GGAAGGGGCACCTCCCCAGGGTGACACCCGCCCGGGAAAGGGGAAGGGGT ACCTCCCCAGGGTGACACCCGCCTGGGTAAGGGGAAGGGGCACCTCCCCA GGGCGGCACCCGCCTGGGTAAGGGGAAGGGGCACCTCCCCAGGGTGACAC TCGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	183	0.0055	205	c.107 others(226): Show c.1078-16049_1078-16048insAGGCGAGTGTCACCCTGGGGAGGT GCCCCTTCCCCTTACCCAGGCGGGTGCCGCCCTGGGGAGGTGCCCCTTCC CCTTACCCAGGCGGGTGTCACCCTGGGGAGGTACCCCTTCCCCTTTCCCG GGCGGGTGTCACCCTGGGGAGGTGCCCCTTCCCCTTACCCGGGCGGGTGT CACCCTGGGGAGGTGTCCCTTCCCCTTACCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GFPT2_chr5_180295698_180358336	180300000	T T	TAGCTCCC others(198): Show TAGCTCCCAGGTTTCCAGCCCGTGATACAGGTGAGGGCATAGGACAGAAT GGTGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCCGTGATACAGGT GAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGTTCCTAGGTTT CCAGCCCCTGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACTG GAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01928.hp2 others(1): Show HG01099.hp1 HG01109.hp2 HG01928.hp2 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0012 a0002c0002t0008g0247 a0002c0002t0008g0248 a0002c0002t0008g0012 a0002c0002t0008g0247 a0002c0002t0008g0248	4	412	0.0097	205	c.15 others(216): Show c.1563_*1564insCATTTCCAGTTATCCACCATCCTGTCCTATGCCC TCACCTGTATCACAGGGGCTGGAAACCTAGGAACTACATTTCCAGTTATC CACCATCCTGTCCTATGCCCTCACCTGTATCACGGGCTGGAAACCTGGGA GCTACATTTCCAGTTATCCACCATTCTGTCCTATGCCCTCACCTGTATCA CGGGCTGGAAACCTGGGAGCT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		697		chr5	TogoVar
GLB1L3_chr11_134271379_134324564	134308503	C C	CACCACCA others(198): Show CACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCA TCACCACTACCACCACCACCAGCACCACCACCATCACCATCATCACCATC ACCACTACCACCACCACCACCACCACCACCATCACCACCATCACCACCAT CACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCA CCAAAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	422	0.0024	205	c.962 others(222): Show c.962-1110_962-1109insTGTCCACCACCACTACCACCACCATCAC CATCACCATCACCACTACCACCACCACCAGCACCACCACCATCACCATCA TCACCATCACCACTACCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCAAATACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63608765	C C	CCACATCC others(198): Show CCACATCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTA GAAACATGTCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTG ACCCCACCTCCATTTCTAGAAATATGCCCCTGACCCCACACATCCATTTC TAGAAACATGTCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCT GACCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19074.hp2 HG02083.hp1 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0024 a0001c0003t0002 a0001c0003t0024	a0001c0003t0002g0144 a0001c0003t0024g0167 a0001c0003t0002g0144 a0001c0003t0024g0167	2	330	0.0061	205	c.132 others(222): Show c.132-3926_132-3925insTGGGTCAGAGGGGCATGTTTCTGGAAAT GGAGGTGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAGG GGCATATTTCTAGAAATGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAA TGGAGGTGAGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGTGGGTCAG AGGGGCATGTTTCTAGAAATGGATGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GOLM1_chr9_86021146_86104558	86053676	A A	ACCTCTCC others(198): Show ACCTCTCCACACACACCACACACCATTCCAAACCATGCTACACACCACAC ACTACCACACCACACACTCCACACCAGAACACACACCATGCCACACCACT CCACACAACACGCCACACACCATTCCACACCAAACCACACCCCACACACT CCACACCACACACAACCACTCCATACCAAACCACACACCATACCACACTC CACACT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0096 a0001c0003t0002g0040 a0001c0003t0002g0096	2	314	0.0064	205	c.310 others(222): Show c.310-1086_310-1085insAGTGTGGAGTGTGGTATGGTGTGTGGTT TGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGTTTGGT GTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTGTGTGT TCTGGTGTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATGGTTTG GAATGGTGTGTGGTGTGTGTGGAGAGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053681	T T	TCCACACA others(198): Show TCCACACACACCACACACCATTCCAAACCATGCTACACACCACACACTAC CACACCACACACTCCACACCAGAACACACACCATGCCACACCACTCCACA CAACACGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACA CCACACACAACCACTCCATACCAAACCACACACCATACCACACTCCACAC TCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(190): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19083.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0015 a0003c0005 a0003c0008 a0004c0009 a0005c0013 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0024 a0001c0003t0002 a0001c0003t0019 a0001c0004t0002 a0002c0002t0001 a0002c0002t0015 a0002c0002t0023 a0002c0006t0002 a0002c0006t0006 a0002c0007t0005 a0002c0010t0002 a0002c0011t0017 a0002c0015t0022 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0008t0002 a0003c0008t0004 a0004c0009t0002 a0005c0013t0001 a0007c0012t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(190): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0002g0123 a0001c0001t0007g0181 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0007g0198 a0001c0001t0024g0314 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0044 a0001c0003t0002g0047 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0055 a0001c0003t0002g0061 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0097 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0110 a0001c0003t0002g0144 a0001c0003t0019g0022 a0001c0004t0002g0002 a0001c0004t0002g0014 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0035 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0041 a0001c0004t0002g0042 a0001c0004t0002g0043 a0001c0004t0002g0045 a0001c0004t0002g0048 a0001c0004t0002g0049 a0001c0004t0002g0056 a0001c0004t0002g0059 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0076 a0001c0004t0002g0095 a0001c0004t0002g0098 a0001c0004t0002g0099 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0004t0002g0102 a0001c0004t0002g0111 a0001c0004t0002g0117 a0001c0004t0002g0118 a0001c0004t0002g0138 a0001c0004t0002g0139 a0001c0004t0002g0140 a0001c0004t0002g0142 a0001c0004t0002g0143 a0002c0002t0001g0206 a0002c0002t0001g0250 a0002c0002t0015g0207 a0002c0002t0015g0208 a0002c0002t0023g0210 a0002c0006t0002g0106 a0002c0006t0006g0006 a0002c0006t0006g0057 a0002c0006t0006g0062 a0002c0006t0006g0115 a0002c0006t0006g0116 a0002c0006t0006g0119 a0002c0007t0005g0046 a0002c0007t0005g0054 a0002c0007t0005g0088 a0002c0007t0005g0103 a0002c0010t0002g0141 a0002c0011t0017g0073 a0002c0015t0022g0220 a0003c0005t0001g0209 a0003c0005t0004g0120 a0003c0005t0004g0121 a0003c0005t0004g0124 a0003c0005t0004g0126 a0003c0005t0004g0127 a0003c0005t0004g0128 a0003c0005t0004g0129 a0003c0005t0004g0135 a0003c0005t0004g0136 a0003c0005t0008g0201 a0003c0008t0002g0013 a0003c0008t0004g0008 a0003c0008t0004g0009 a0003c0008t0004g0010 a0003c0008t0004g0011 a0003c0008t0004g0012 a0003c0008t0004g0015 a0003c0008t0004g0018 a0003c0008t0004g0107 a0004c0009t0002g0053 a0004c0009t0002g0084 a0005c0013t0001g0236 a0007c0012t0001g0163	193	314	0.6147	205	c.310 others(222): Show c.310-1091_310-1090insTGTGGAGTGTGGAGTGTGGTATGGTGTG TGGTTTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGT TTGGTGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTG TGTGTTCTGGTGTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATG GTTTGGAATGGTGTGTGGTGTGTGTGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053681	T T	TCCACACA others(198): Show TCCACACACACCACACACCATTCCAAACCATGCTACACACCACACACTAC CACACCACACACTCCACACCAGAACACACACCATGCCACACCACTCCACA CAACACGCCACACACCATTCCACACCAAACCACATCCCACACACTCCACA CCACACACAACCACTCCATACCAAACCACACACCATACCACACTCCACAC TCCACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03225.hp1 HG02055.hp2 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257	3	314	0.0096	205	c.310 others(222): Show c.310-1091_310-1090insTGTGGAGTGTGGAGTGTGGTATGGTGTG TGGTTTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGATGTGGT TTGGTGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTG TGTGTTCTGGTGTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATG GTTTGGAATGGTGTGTGGTGTGTGTGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar

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