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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
THNSL2_chr2_88165346_88191627	88181360	C C	CTCTCTCT others(503): Show CTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCCTCTCCTCTC TCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	54	0.0185	510	c.803 others(527): Show c.803-1339_803-1338insTCTCTCTTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCTCTCCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCT		THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8						chr2	TogoVar
TH_chr11_2158929_2176815	2161890	C C	CACCCCTG others(503): Show CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCGGGACCCTTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACC CCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	388	0.0026	510	c.23 others(521): Show c.2342_*2343insCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGG ACAAGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GAGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAA GGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTGTGGGGACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2038		chr11	TogoVar
TMEM242_chr6_157284025_157328519	157311190	A A	AGCCTCAT others(503): Show AGCCTCATCATAGTGTCCCAGTGGTCGCTCATCTAGCCTCACCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTATCCCAGTGTGCACTCTC CCGGCCTCATCATAGTGTCCAAGTGTGCACTCACCTAGCCTCATCAGAGT GTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCACTC ACCAGGCCTAATCATAATGCCCCAGTGTACACTCACCTAGCCTCATCATA GTGTCCCAGTGTGCGCTTACCTTACCTCATCATAGTGTCCCAGTGTGCGC TCACCTGGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCA CACTGCCCCAGTGTTCGCTCACCTAACCTCATCATAGTGTCCCATTGTGC GTTCACCTAGCCTCATCAGAGTGTCCCAGTGTGTGCTCACCCAGCCTCAT CATAGTGCCCCAGTGTACACTCACCTGGCCTCATTATACTGACCAAGTGT GCACTCACCCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0255 a0001c0001t0015g0255	1	344	0.0029	510	c.327 others(527): Show c.327+7591_327+7592insCGGGTGAGTGCACACTTGGTCAGTATAA TGAGGCCAGGTGAGTGTACACTGGGGCACTATGATGAGGCTGGGTGAGCA CACACTGGGACACTCTGATGAGGCTAGGTGAACGCACAATGGGACACTAT GATGAGGTTAGGTGAGCGAACACTGGGGCAGTGTGATGAGGCTAGGTGAG CGCACACTGGGGCACTATGATGAGGCCAGGTGAGCGCACACTGGGACACT ATGATGAGGTAAGGTAAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGTGTACACTGGGGCATTATGATTAGGCCTGGTGAGTGCACACTGGGGCA CTATGATGAGGCCGGGTGAGCGCACACTGGGACACTCTGATGAGGCTAGG TGAGTGCACACTTGGACACTATGATGAGGCCGGGAGAGTGCACACTGGGA TACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGGTGAGGCTA GATGAGCGACCACTGGGACACTATGATGAGGC		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311244	G G	GTATGCGC others(503): Show GTATGCGCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGG CCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCC CAGTGTGCACTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCT AGCCTCATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGT CCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCAC CCGGCCTCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGT GTCCCAGTGTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTC AACTACCCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATA GTGCCCAAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGC TCACCCGGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCT TAGTGCCCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp2 HG01109.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0311 a0001c0001t0003g0312	2	344	0.0058	510	c.327 others(527): Show c.327+7537_327+7538insGTGGGGCACTAAGATGAGGCCAGGTGAG CGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGGGACACT ATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGCCGGGTG AGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACTGGGGCA CTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAGGCCATG TGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGA CACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATGAAGCTA GGTGTGCACACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGG GACACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGGTGAGGC CGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTGCACACT GGGGCACTATGACTAGGCCGGGTGAGCGCATA		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311250	G G	GCTCACCC others(503): Show GCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCAT CATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCC TCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCA GTGTGCACTCACCTGGCCTCATAATAGTGCCCCAGTGTGTGCTCAACTAC CCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCC AAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCC GGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGC CCCACTGTGCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	344	0.0029	510	c.327 others(527): Show c.327+7531_327+7532insTGCACAGTGGGGCACTAAGATGAGGCCA GGTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGG GACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGC CGGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACACT GGGGCACTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAG GCCATGTGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATG AAGCTAGGTGTGCACACACTGGGACACTATGATGAGGCTAGGTGAGTGCA CACTGGGACACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTATGG TGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTG CACACTGGGGCACTATGACTAGGCCGGGTGAG		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311250	G G	GCTCACCC others(503): Show GCTCACCCGGCCTAGTCATAGTGCCCCAGTGTGCACTCACGCGGCCTCAT CATAGTGTCCCAGTGTGCGCTCACCCGGCCTCACCATAGTGTCCCAGTGT GCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACGTAGCCTC ATCATAGTGTCCCAGTGTGTGCACACCTAGCTTCATCAGAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCC TCATCATAGTGCCCCAGTGTGCACTCACATGGCCTCATCAAAGTGTCCCA GTGTGCACTCACCTGGCCTCATAATAGTGCCCCAATGTGTGCTCAACTAC CCTCATCATAGTGTCACAGTGTGCACTCACCCGGCCTCATCATAGTGCCC AAGTGTGCACTTACCTAGCCTCATCATAGTGTCCCACTGTGCGCTCACCC GGCCTCATCATAGTGTAACAGTGTGCGCTCACCTGGCCTCATCTTAGTGC CCCACTGTGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	344	0.0029	510	c.327 others(527): Show c.327+7531_327+7532insTGCACAGTGGGGCACTAAGATGAGGCCA GGTGAGCGCACACTGTTACACTATGATGAGGCCGGGTGAGCGCACAGTGG GACACTATGATGAGGCTAGGTAAGTGCACACTTGGGCACTATGATGAGGC CGGGTGAGTGCACACTGTGACACTATGATGAGGGTAGTTGAGCACACATT GGGGCACTATTATGAGGCCAGGTGAGTGCACACTGGGACACTTTGATGAG GCCATGTGAGTGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTCTGATG AAGCTAGGTGTGCACACACTGGGACACTATGATGAGGCTACGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTATGG TGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCGCGTGAGTG CACACTGGGGCACTATGACTAGGCCGGGTGAG		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312355	A A	AGTGTCCC others(503): Show AGTGTCCCAGGGTGCGCTCATCCGGCCTCATGATAGTGTCGCAGTGTGCA CTCACCCAACCTAATAATAGTGTCCCAGTGTGCAATCACCTAGCCTCATC ATAGAGCCCCAGTGTCCGCTCACCTAGCCTCATCAAAGTGTCCCAGTGGG TGCTCACCTAGCCTCATCATAGTGTCCCAGTCGGCGCTCACCTAGCCTCA TCATAGTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTG TGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCTGCCT CATCATAGTGAACCACTGTGCGCTCACGTAGCCTCATCATAGTGTCCCAG TGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGA CTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGTTTCCC AGTGAGCGCTCACCCGGCCTCATCATACTGCCCACTCTGCGCTCACCCGG CATCATCATAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19064.hp1 NA18943.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	344	0.0058	510	c.327 others(527): Show c.327+6426_327+6427insCTATGATGATGCCGGGTGAGCGCAGAGT GGGCAGTATGATGAGGCCGGGTGAGCGCTCACTGGGAAACTATGATGAGG CTAGGTGAGCGGATACTGGGGCATTATGATGAGTCTAGGTGAGTGCACAC TGGGACACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTATGATGA GGCTACGTGAGCGCACAGTGGTTCACTATGATGAGGCAGGGTGAGCGCAC ACTGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGAT GAGGCTAGGTGAGCGCACAATGGGGCACTATGATGAGGCTAGGTGAGCGC CGACTGGGACACTATGATGAGGCTAGGTGAGCACCCACTGGGACACTTTG ATGAGGCTAGGTGAGCGGACACTGGGGCTCTATGATGAGGCTAGGTGATT GCACACTGGGACACTATTATTAGGTTGGGTGAGTGCACACTGCGACACTA TCATGAGGCCGGATGAGCGCACCCTGGGACAC		TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3						chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(503): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGG TCAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	466	0.0022	510	c.49 others(521): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCC GGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCC TCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTA GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAAC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TRIOBP_chr22_37692048_37781556	37724099	A A	ACCTCCTC others(503): Show ACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGC CCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACA ACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACC TCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCA GCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACC CCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCC TCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCG GGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCA CAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCT CCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGA CAATCCCAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18980.hp1 NA18982.hp2 NA19080.hp2 others(1): Show NA18980.hp1 NA18982.hp2 NA19080.hp2 NA19083.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0161 a0007c0008t0003g0162 a0007c0008t0003g0163 others(1): Show a0007c0008t0003g0161 a0007c0008t0003g0162 a0007c0008t0003g0163 a0007c0008t0003g0239	4	322	0.0124	510	c.186 others(519): Show c.1865_1866insCAACCCCAGAACATCCTGCGCCCAGCGGGACAATCC CAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCT GTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGA GCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAG AGCCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCG CCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGAC AACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAAC CTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCC AGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAAC CCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTC CTCTCCCAATAGAGCCACACGAGA	p.Asp others(523): Show p.Asp622_Asn623insAsnProArgThrSerCysAlaGlnArgAspAs nProArgAlaSerSerProAsnArgAlaAlaArgAspAsnProThrThrS erCysAlaGlnArgAspAsnProArgAlaSerArgThrSerSerProAsn ArgAlaThrArgAspAsnProArgThrSerCysAlaGlnArgAspAsnPr oArgAlaSerSerProAsnArgAlaThrArgAspAsnProArgThrSerC ysAlaGlnArgAspAsnProArgAlaSerSerProAsnArgAlaAlaArg AspAsnProThrThrSerCysAlaGlnArgAspAsnProArgAlaSerAr gThrSerSerProAsnArgAlaThrArgAspAsnProArgThrSerCysA laGlnArgAspAsnProArgAlaSerSerProAsnArgAlaThrArgAsp AsnProThrThrSerCysAlaGlnArgAspAsnProArgAlaSerArgTh rSerSerProAsnArgAlaThrArgAsp	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	2077/10085	1866/7098	622/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(503): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGATCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0105 a0001c0027t0001g0105	1	198	0.0051	510	c.204 others(531): Show c.2046+10566_2046+10567insTCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347290	C C	CGGACCTG others(503): Show CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAGCAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAGCAGAGATGATGCTGGACCAG TCATCTCAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0138 a0001c0019t0001g0139 a0001c0019t0001g0138 a0001c0019t0001g0139	2	198	0.0101	510	c.204 others(531): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAGCAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAGCAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347373	C C	CTGGACCA others(503): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0109 a0001c0005t0002g0166 a0001c0001t0002g0109 a0001c0005t0002g0166	2	198	0.0101	510	c.204 others(531): Show c.2046+10664_2046+10665insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGATGGACCAGTCATCTCAGG		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(503): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	334	0.0030	510	c.657 others(525): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC		TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(503): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0076 a0002c0003t0002g0076	1	334	0.0030	510	c.657 others(525): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC		TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(503): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0221 a0005c0005t0003g0221	1	370	0.0027	510	c.103 others(531): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
VSIG4_chrX_66016738_66045080	66037125	T T	TATAATAT others(503): Show TATAATATATATAATATATATATATAATATAATGCAATATATAATAATTA TATAATATAATATATAATATATAATATATATTATATATTATATATAATAT ATATTATATATTATATATAATAATATAATATATAATATACATTATATAAT AATATATATATAATATACATTATATAATAATATAATGTATATTATATAAT AATAATGTAATATATAACATATATTATATAATACTAATATAATATATATT ATATAATTAATATAATATATAATATTTTTATATAATAATAATATAATATA TATTATATAATTAATATAATATATAATATATATTATATAATAATATTATA ATATATATAATAATTATATAATATAGTATATAATATATATTATATAATAA TAATATAATATAATATAATAATTATATAAAATTAGAATATATAATATACA ATAATATAATATATTATTACAATTATAATATAATATATATATAATTATAT AATATAATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	218	0.0046	510	c.55+ others(525): Show c.55+2818_55+2819insTATATTATATTATATAATTATATATATATT ATATTATAATTGTAATAATATATTATATTATTGTATATTATATATTCTAA TTTTATATAATTATTATATTATATTATATTATTATTATATAATATATATT ATATACTATATTATATAATTATTATATATATTATAATATTATTATATAAT ATATATTATATATTATATTAATTATATAATATATATTATATTATTATTAT ATAAAAATATTATATATTATATTAATTATATAATATATATTATATTAGTA TTATATAATATATGTTATATATTACATTATTATTATATAATATACATTAT ATTATTATATAATGTATATTATATATATATTATTATATAATGTATATTAT ATATTATATTATTATATATAATATATAATATATATTATATATAATATATA ATATATATTATATATTATATATTATATTATATAATTATTATATATTGCAT TATATTATATATATATATTATATATATTAT		VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7						chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(503): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCATCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCC TCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCC CCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCCTGTCCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCC TCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	246	0.0041	510	c.53- others(523): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCATCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTGTCCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCC CCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(503): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	246	0.0041	510	c.53- others(523): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCC CCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(503): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	246	0.0041	510	c.53- others(523): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCC CCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(503): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCT CCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCT CCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCT CCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCC TGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCC CTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCCCT CCCCCTCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0023 a0016c0029t0023	a0016c0029t0023g0194 a0016c0029t0023g0194	1	246	0.0041	510	c.53- others(523): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCC TCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTC TCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCT CTCCCCTCTCCCCCCTCCCCCTCCCCCC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(503): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG04115.hp2 NA18943.hp2 others(3): Show HG02630.hp1 HG04115.hp2 NA18943.hp2 NA18960.hp2 NA18998.hp1 NA21309.hp2	a0002 a0020 a0002 a0020	a0002c0002 a0020c0019 a0002c0002 a0020c0019	a0002c0002t0002 a0020c0019t0002 a0002c0002t0002 a0020c0019t0002	a0002c0002t0002g0011 a0020c0019t0002g0050 a0002c0002t0002g0011 a0020c0019t0002g0050	6	342	0.0175	510	c.110 others(527): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGTCATGT		VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
ZFPM1_chr16_88448280_88542031	88501334	C C	CATGGGCT others(503): Show CATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGA TGCGGAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0062 a0005c0007t0062	a0005c0007t0062g0255 a0005c0007t0062g0255	1	318	0.0031	510	c.268 others(529): Show c.268+12181_268+12182insATGGGCTCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGT GCTGGTGATGATGGAGATAGCAGACATGGGTGCG		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9						chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370962	C C	CATATGTG others(503): Show CATATGTGATATATATCATATATCACATATATGATATATATCATATGTGA TATATATCATATATATCACATATATGATATATATCATATGTGATATATAT CATATATATCACATATATATATCATATGTGATATATATCATATATATCAC ATATATGATATATATCATATGTGATATATATCATATATATCACATATATG ATATATATCATATATGTGATATATATCATATATATCACATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCATATGATATA TATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATA TGATATATAGCATATGTGATATATATCATATATATCACATATGATATATA GCATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTG ATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	350	0.0029	510	c.-35 others(521): Show c.-3510_-3509insATATGTGATATATATCATATATCACATATATGAT ATATATCATATGTGATATATATCATATATATCACATATATGATATATATC ATATGTGATATATATCATATATATCACATATATATATCATATGTGATATA TATCATATATATCACATATATGATATATATCATATGTGATATATATCATA TATATCACATATATGATATATATCATATATGTGATATATATCATATATAT CACATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCATATGATATATATCACATGTGATATATAGCATATGTGATATATAT CATATATATCACATATGATATATAGCATATGTGATATATATCATATATAT CACATATGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATGAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3406		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370962	C C	CATATGTG others(503): Show CATATGTGATATATATCATATATCACATATATGATATATATCATATGTGA TATATATCATATATATCACATATATGATATATATCATATGTGATATATAT CATATATATCATATATATATATCATATGTGATATATATCATATATATCAC ATATATGATATATATCATATGTGATATATATCATATATATCACATATATG ATATATATCATATATGTGATATATATCATATATATCACATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCATATGATATA TATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATA TGATATATAGCATATGTGATATATATCATATATATCACATATGATATATA GCATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTG ATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0126 a0001c0001t0006g0126	1	350	0.0029	510	c.-35 others(521): Show c.-3510_-3509insATATGTGATATATATCATATATCACATATATGAT ATATATCATATGTGATATATATCATATATATCACATATATGATATATATC ATATGTGATATATATCATATATATCATATATATATATCATATGTGATATA TATCATATATATCACATATATGATATATATCATATGTGATATATATCATA TATATCACATATATGATATATATCATATATGTGATATATATCATATATAT CACATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCATATGATATATATCACATGTGATATATAGCATATGTGATATATAT CATATATATCACATATGATATATAGCATATGTGATATATATCATATATAT CACATATGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATGAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3406		chr10	TogoVar
ABCA13_chr7_48166458_48652497	48194103	A A	ATGAGATA others(504): Show ATGAGATAATAGTGATGATGGTGATGATGATGATGGTGCTGATGATAGTG ATGATGGTGATGATGATGATGGTGCTGTTGATAGTGATGATGGTGATGAT GATGATGGAGATGATAGTGATGATGGCAATGATATGATAGTGGAGATGAT AAAAGTAATGATAGTGATGATGATGATATTGATGTTGATGATAATGAAGA TTATAGTAATGATAATGGAGAAGATGGAGATAATAGTGATGATGGTGATG ATGATGATGGAGGTGATGATAGGGATGATGGTGATGATGATGAAGATGAT TATAGTGATAAGTGTAATTATGATGGCGATAGTAATGGTGGTGATGATGA TGATGGAGATGATGGTTATGATGATGATGGAGACAATAGTGATGATAATA ATGGAGATGATGATAGTGATGATGATGATGGAGATGATGGAGATGATAAT GATGATGATGATGGAGATGATAGTGATGATGGTGATGATAATGGAGATGA TAGTAACTATGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02258.hp1 HG02717.hp1	a0029 a0065 a0029 a0065	a0029c0014 a0065c0091 a0029c0014 a0065c0091	a0029c0014t0005 a0065c0091t0001 a0029c0014t0005 a0065c0091t0001	a0029c0014t0005g0119 a0065c0091t0001g0109 a0029c0014t0005g0119 a0065c0091t0001g0109	2	178	0.0112	511	c.163 others(528): Show c.163+1054_163+1055insGATAATAGTGATGATGGTGATGATGATG ATGGTGCTGATGATAGTGATGATGGTGATGATGATGATGGTGCTGTTGAT AGTGATGATGGTGATGATGATGATGGAGATGATAGTGATGATGGCAATGA TATGATAGTGGAGATGATAAAAGTAATGATAGTGATGATGATGATATTGA TGTTGATGATAATGAAGATTATAGTAATGATAATGGAGAAGATGGAGATA ATAGTGATGATGGTGATGATGATGATGGAGGTGATGATAGGGATGATGGT GATGATGATGAAGATGATTATAGTGATAAGTGTAATTATGATGGCGATAG TAATGGTGGTGATGATGATGATGGAGATGATGGTTATGATGATGATGGAG ACAATAGTGATGATAATAATGGAGATGATGATAGTGATGATGATGATGGA GATGATGGAGATGATAATGATGATGATGATGGAGATGATAGTGATGATGG TGATGATAATGGAGATGATAGTAACTATGGTGA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	2/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48194103	A A	ATGAGATA others(504): Show ATGAGATAATAGTGATGATGGTGATGATGATGATGGTGCTGATGATAGTG ATGATGGTGATGATGATGATGGTGCTGTTGATAGTGATGATGGTGATGAT GATGATGGAGATGATAGTGATGATGGCAATGATATGATAGTGGAGATGAT AAGAGTAATGATAGTGATGATGATGATATTGATGTTGATGATAATGAAGA TTATAGTAATGATAATGGAGAAGATGGAGATAATAGTGATGATGGTGATG ATGATGATGGAGGTGATGATAGGGATGATGGTGATGATGATGAAGATGAT TATAGTGATAAGTGTAATTATGATGGCGATAGTAATGGTGGTGATGATGA TGATGGAGATGATGGTTATGATGATGATGGAGACAATAGTGATGATAATA ATGGAGATGATGATAGTGATGATGATGATGGAGATGATGGAGATGATAAT GATGATGATGATGGAGATGATAGTGATGATGGTGATGATAATGGAGATGA TAGTAACTATGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(43): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18959.hp1 NA18961.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19011.hp1 NA19030.hp2 NA19062.hp2 NA19083.hp1 NA20905.hp1	a0001 a0002 a0004 others(29): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0018 a0020 a0022 a0023 a0038 a0039 a0040 a0041 a0049 a0051 a0063 a0066 a0068 a0069 a0070 a0071 a0072 a0076 a0077 a0080 a0086	a0001c0001 a0002c0002 a0002c0022 others(35): Show a0001c0001 a0002c0002 a0002c0022 a0002c0065 a0004c0009 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0007c0011 a0007c0101 a0008c0013 a0009c0107 a0010c0031 a0012c0016 a0014c0019 a0018c0029 a0020c0034 a0020c0109 a0022c0020 a0023c0018 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0049c0055 a0051c0053 a0063c0071 a0066c0062 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0076c0083 a0077c0082 a0080c0090 a0086c0059	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(38): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0002c0022t0002 a0002c0065t0006 a0004c0009t0001 a0005c0005t0003 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0007c0011t0003 a0007c0101t0003 a0008c0013t0001 a0009c0107t0001 a0010c0031t0003 a0012c0016t0001 a0014c0019t0002 a0018c0029t0001 a0020c0034t0003 a0020c0109t0001 a0022c0020t0005 a0023c0018t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0049c0055t0003 a0051c0053t0004 a0063c0071t0005 a0066c0062t0003 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0076c0083t0003 a0077c0082t0005 a0080c0090t0005 a0086c0059t0003	a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(43): Show a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0065t0006g0128 a0004c0009t0001g0116 a0005c0005t0003g0132 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0007c0011t0003g0130 a0007c0101t0003g0139 a0008c0013t0001g0111 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0012c0016t0001g0108 a0014c0019t0002g0136 a0014c0019t0002g0175 a0018c0029t0001g0134 a0020c0034t0003g0117 a0020c0109t0001g0120 a0022c0020t0005g0123 a0023c0018t0001g0110 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0049c0055t0003g0125 a0051c0053t0004g0122 a0063c0071t0005g0105 a0066c0062t0003g0141 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0076c0083t0003g0145 a0077c0082t0005g0146 a0080c0090t0005g0104 a0086c0059t0003g0172	46	178	0.2584	511	c.163 others(528): Show c.163+1054_163+1055insGATAATAGTGATGATGGTGATGATGATG ATGGTGCTGATGATAGTGATGATGGTGATGATGATGATGGTGCTGTTGAT AGTGATGATGGTGATGATGATGATGGAGATGATAGTGATGATGGCAATGA TATGATAGTGGAGATGATAAGAGTAATGATAGTGATGATGATGATATTGA TGTTGATGATAATGAAGATTATAGTAATGATAATGGAGAAGATGGAGATA ATAGTGATGATGGTGATGATGATGATGGAGGTGATGATAGGGATGATGGT GATGATGATGAAGATGATTATAGTGATAAGTGTAATTATGATGGCGATAG TAATGGTGGTGATGATGATGATGGAGATGATGGTTATGATGATGATGGAG ACAATAGTGATGATAATAATGGAGATGATGATAGTGATGATGATGATGGA GATGATGGAGATGATAATGATGATGATGATGGAGATGATAGTGATGATGG TGATGATAATGGAGATGATAGTAACTATGGTGA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	2/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(504): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCACACATCACCTCAG TCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCC CACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCA CCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAAC ACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACAC ATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCA GCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	337	0.0030	511	c.61+ others(526): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTGGGGGGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGG GGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100058188	C C	CCCCTATC others(504): Show CCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACACCCCCTATC CCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAA CACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCTAT CCCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTC TTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCGTCC TATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCT CTTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCAGCTCTAACACCC CATATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCG GCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCTTATCCC GGCTCTAACCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0073 a0002c0073	a0002c0073t0051 a0002c0073t0051	a0002c0073t0051g0183 a0002c0073t0051g0183	1	228	0.0044	511	c.213 others(530): Show c.2138-4135_2138-4134insAGGGTTAGAGCCGGGATAAGGGTGTT AGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGA TAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGT TAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGGGTGTTAGAGCTG GGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAG GGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCC GGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGG GTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGA GCCGGGATAGGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATA GGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGGTGTTA GAGCCGGGATAGGGGGTGTTAGAGCCGGGATAGGG		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21						chr15	TogoVar
ALPK2_chr18_58476247_58634091	58550503	T T	TATACAAC others(504): Show TATACAACCCCATCCCCATCTCTATCACCTACAATCCCATCCCCATCTCC ATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTACCCCCAT CTATATCATATACAACCCATCCCCATCTCTATCACCTACAACCCCATCCC CATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATATGACTCTA CCCCCATCTATATCATATACAACCCCATCCCCATCTCTATCACCTACAAC CCCATCTCCATCTCCATCACCTACAACCCCATCCCCATCTCCATCATATA TGACTCTATCCCCATCTGTGTCATATACAACCCATCCCCATCTATATCAC ATACAACTCCATCCCCATCTCCATCACATAAAACCCCATCCCTGACTTCA TCATGAACAACCCCATCCCTGTCTCTATCACATATAACCTCATCCCCATC TCCATCACCTACAACCCCATCCCCATCTCCATCATGTATGACTCTACACC CATCTATATCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18949.hp1 NA19012.hp2 HG00408.hp2 NA18949.hp1 NA19012.hp2	a0002 a0029 a0002 a0029	a0002c0002 a0029c0031 a0002c0002 a0029c0031	a0002c0002t0001 a0029c0031t0004 a0002c0002t0001 a0029c0031t0004	a0002c0002t0001g0178 a0002c0002t0001g0215 a0029c0031t0004g0278 a0002c0002t0001g0178 a0002c0002t0001g0215 a0029c0031t0004g0278	3	320	0.0094	511	c.196 others(532): Show c.1963-12280_1963-12279insGTGATATAGATGGGTGTAGAGTCA TACATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGAG GTTATATGTGATAGAGACAGGGATGGGGTTGTTCATGATGAAGTCAGGGA TGGGGTTTTATGTGATGGAGATGGGGATGGAGTTGTATGTGATATAGATG GGGATGGGTTGTATATGACACAGATGGGGATAGAGTCATATATGATGGAG ATGGGGATGGGGTTGTAGGTGATGGAGATGGAGATGGGGTTGTAGGTGAT AGAGATGGGGATGGGGTTGTATATGATATAGATGGGGGTAGAGTCATATA TGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGATGGGGTTG TAGGTGATAGAGATGGGGATGGGTTGTATATGATATAGATGGGGGTAGAG TCATATATGATGGAGATGGGGATGGGGTTGTAGGTGATGGAGATGGGGAT GGGATTGTAGGTGATAGAGATGGGGATGGGGTTGTAT		ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12						chr18	TogoVar
ARHGAP40_chr20_38596809_38655653	38653202	G G	GATGATAG others(504): Show GATGATAGATGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATGGTG TGATTGTGCTGGTGGTGTGAGATGATTATGAAATAATATTATTATGTATT AAATCACAATCAATTTCATTATTATAATTATTATATTATCATAACCATTA TTATTATTTATGGTGGTGGTGGTGGGGTGATGGAAATGATGATGATGTTA ATTGTGGTGTTGATGATGGTAATGATAATGATTGTGAGTTGGTGGTGCTT GGTGATTCTGATAATGGTGGTGGTGGTGGTGAATGATATGATTATGATGG TGGTGGTGGTGGTGGTGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGA AAAACACACAAAAAACACACACACACAAAAAACAAAAAACACCACACAAA AACATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAAACATGCTGGT GGTGGTGGCGTTGATGATGGTGACAGTAGTGGTGATCGATGGTGGTGGTG GTGTGTGATGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	350	0.0029	511	c.33 others(522): Show c.3354_*3355insATGATAGATGTTAGTTGTGGTGTTGATGATGGTA ATGATAATGATGGTGTGATTGTGCTGGTGGTGTGAGATGATTATGAAATA ATATTATTATGTATTAAATCACAATCAATTTCATTATTATAATTATTATA TTATCATAACCATTATTATTATTTATGGTGGTGGTGGTGGGGTGATGGAA ATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTGT GAGTTGGTGGTGCTTGGTGATTCTGATAATGGTGGTGGTGGTGGTGAATG ATATGATTATGATGGTGGTGGTGGTGGTGGTGTGCTGGTGATAGTGGTGG TGGTGGTGCTGGTGAAAAACACACAAAAAACACACACACACAAAAAACAA AAAACACCACACAAAAACATTATGATGGTGGTGTTGGTGGTGCTGGTGAT GATAAACATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTAGTGGTGA TCGATGGTGGTGGTGGTGTGTGATGAA		ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding					2550		chr20	TogoVar
BFSP2_chr3_133395056_133480208	133425982	A A	AGGGGAGG others(504): Show AGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGG GAGGGGAGGGTAGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGAGAGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGAGAGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGAGGGGGAGGGGAGGGAGGGGGAGGAGGGGA GGGGGAGGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGATGGGAG GGGAGGGGAAGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	276	0.0036	511	c.490 others(530): Show c.490-21333_490-21332insGGAGGGAGGGGAGGGGAGGGGGAGGG GAGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGTAGAGGGGAGGGAGGGGAG GGGAGGGGGAGGGAGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGG GAGGGAGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGAGGGGGAGG GGAGGGAGGGGGAGGAGGGGAGGGGGAGGGGATGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGATGGGAGGGGAGGGGAAGGGG		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(504): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGG AGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTG GGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	511	c.-70 others(520): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAG GAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGGGGAAGTGGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
BRF1_chr14_105204286_105306001	105236821	C C	CAACAACC others(504): Show CAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGT CGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGTGGCACCCTCAGG AGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTA GTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCA GGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCG TAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCT CAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACC CTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTC CGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCA CCCTCAGGAGCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	72	0.0139	511	c.694 others(528): Show c.694+4443_694+4444insTGCTCCTGAGGGTGCCACGGGGCTGCCA GGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCT CTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGC CAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGC CTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCT GTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTG GCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGG CTGTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTG TGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGG GGCTGTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGG TGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(504): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGG AGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18975.hp1 HG02135.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0218 a0002c0004t0001g0145 a0002c0002t0001g0218 a0002c0004t0001g0145	2	410	0.0049	511	c.465 others(526): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCC CTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(504): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCG GGACGGAGGGAGGGCGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGG AGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGG GCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0214 a0002c0004t0001g0214	1	410	0.0024	511	c.465 others(526): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCC CTCCGTCCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(504): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03098.hp2 HG03669.hp1 others(1): Show HG00140.hp1 HG03098.hp2 HG03669.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0002t0002	a0001c0001t0001g0352 a0001c0001t0002g0268 a0001c0001t0042g0080 others(1): Show a0001c0001t0001g0352 a0001c0001t0002g0268 a0001c0001t0042g0080 a0001c0002t0002g0033	4	430	0.0093	511	c.-18 others(522): Show c.-1800_-1799insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAG		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding					558		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(504): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGC CCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03098.hp1 HG03669.hp2 others(1): Show HG00140.hp1 HG03098.hp1 HG03669.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0071 a0001c0001t0114 others(1): Show a0001c0001t0044 a0001c0001t0071 a0001c0001t0114 a0001c0001t0144	a0001c0001t0044g0217 a0001c0001t0071g0178 a0001c0001t0114g0264 others(1): Show a0001c0001t0044g0217 a0001c0001t0071g0178 a0001c0001t0114g0264 a0001c0001t0144g0044	4	394	0.0102	511	c.82 others(522): Show c.8229_*8230insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAG		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					864		chr19	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(504): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCTTCCCACTCCCCCTT CCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCA CTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCCC TTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGTC TTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACTC CCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCTC CCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTC CCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTCC CTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG03041.hp1 others(1): Show HG02451.hp2 HG02559.hp2 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0010 a0001c0002t0007 a0001c0002t0009 others(1): Show a0001c0001t0010 a0001c0002t0007 a0001c0002t0009 a0001c0004t0030	a0001c0001t0010g0015 a0001c0002t0007g0058 a0001c0002t0009g0057 others(1): Show a0001c0001t0010g0015 a0001c0002t0007g0058 a0001c0002t0009g0057 a0001c0004t0030g0063	4	194	0.0206	511	c.75- others(528): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCCA CTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCTT CCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCT TCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCC ATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACT CCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCT CTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCT CCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP170B_chr14_104860268_104901747	104884793	G G	GGGGGGTG others(504): Show GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAA CGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGG AACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGTACTCGTGG GGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTG GGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGT GGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTC GTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACT CGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCC TCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCC CTCGTGGGGAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0191 a0001c0003t0002g0191	1	328	0.0031	511	c.177 others(528): Show c.1770+249_1770+250insTGGAGGTGATGCCGGGGGTGGCGAGTGA GAGCACTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGT GAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGA GTGAGAGTACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCG AGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGT GGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGG TGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGG GTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(504): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCTTCTTCCCTCCTCCCTTCCCCCT TCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCC TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCC CCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCC TCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0028 a0002c0001t0002g0028	1	354	0.0028	511	c.69 others(522): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCAC CCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(504): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	223	0.0045	511	c.-42 others(522): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(504): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACACCACACATGCATACACACCCACGCACCCCC ACACTCATACACACATGCACACACACCACACATGCACACACGCATACACA CCCACACCCCCCCACTCACACACACGCACACCCCCACACCCCCACACTCA TACACACATGCACACACACCACACAGGCACACACACACCCACGCACCCCC ACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATACTC ATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACATG CACACACATACATGCACACACACATACACACCCACACCCCCACACTCATA CACACATGCACACACCACACATGCGCGCACACGCATACACACCCACACAC CCCACACTGATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0004 a0001c0060t0004	a0001c0060t0004g0240 a0001c0060t0004g0240	1	272	0.0037	511	c.193 others(530): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACACCACACA TGCATACACACCCACGCACCCCCACACTCATACACACATGCACACACACC ACACATGCACACACGCATACACACCCACACCCCCCCACTCACACACACGC ACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACAGG CACACACACACCCACGCACCCCCACACTCATACATGCACACACACGCATA CACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACACTCA CATGTGCACAGACACCACACATGCACACACATACATGCACACACACATAC ACACCCACACCCCCACACTCATACACACATGCACACACCACACATGCGCG CACACGCATACACACCCACACACCCCACACTGATA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65						chr9	TogoVar
CUL4A_chr13_113204613_113272108	113232064	A A	ACTGCTGC others(504): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCAACCCTACCCGCCCA CCACCATTACTG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	396	0.0025	511	c.513 others(528): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCAACCCTACCCGCCCACCACCATTACTGCTG		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232064	A A	ACTGCTGC others(504): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	396	0.0025	511	c.513 others(528): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGCTG		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1450073	T T	TGAGGCGG others(504): Show TGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCCCGGTGGCTCG GGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCT GTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCTGTG AGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTG AAGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	511	c.107 others(530): Show c.107-51292_107-51291insAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCT CGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGG CTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTC GGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGG CTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTG AGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(504): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGG GGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA GGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGA GGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGGGAGGGGGAGGGAGGAG GAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0091 a0010c0091	a0010c0091t0005 a0010c0091t0005	a0010c0091t0005g0003 a0010c0091t0005g0003	1	252	0.0040	511	c.118 others(530): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCCCC TCCCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCTCCTC CTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCG others(504): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGGTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCA TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	250	0.0040	511	c.-10 others(530): Show c.-107+5350_-107+5351insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGGTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTC CCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634802	C C	CCCTTCCT others(504): Show CCCTTCCTTCCCTTTCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTACCT TCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	250	0.0040	511	c.105 others(528): Show c.105-1104_105-1103insTTCCTTCCCTTTCCCTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTACCTTCCTTCTCCTTTCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(504): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATATATTATATTTTATATAATATATTATATATA ATATATATAATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	290	0.0035	511	c.-53 others(530): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
EFNA2_chr19_1280873_1306431	1282667	G G	GGGAGGAG others(504): Show GGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAG GGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGG AGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGA GGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGG GAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGA AGGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGAGGAAGGAGAGAGGGAG GGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGGTGGGAGGGAAGTAG GGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAGGTGGTGGGGTGGTGGAGG GTGGAGGTGTGTAGGAGGTGGGGTGGAGGGTGGGAGGGGAGGAGGGTGGG AGGGGGTGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	294	0.0034	511	c.-35 others(522): Show c.-3502_-3501insGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGA AGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGT GTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGA GGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGA GGGGGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGG TAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGAG GAAGGAGAGAGGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAG GTGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAGGTG GTGGGGTGGTGGAGGGTGGAGGTGTGTAGGAGGTGGGGTGGAGGGTGGGA GGGGAGGAGGGTGGGAGGGGGTGTGAA		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					3205		chr19	TogoVar

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Search Results (Total: 10000 hits)