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
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(411): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0144 a0003c0003t0001g0144	1	260	0.0039	418	c.138 others(437): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(411): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATACACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATA ACACATATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATAACACATATATACACCTATGTGTATATATACATATATACATAT ACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0126 a0001c0005t0007g0126	1	376	0.0027	418	c.158 others(437): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATACACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATACATATATACATATACACCTATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATACATATATACATATACACATATGTGTATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(411): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0087 a0001c0002t0052g0087	1	276	0.0036	418	c.-18 others(437): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCC CTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCCCTCCCCCTCTCTCCCCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCT CTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772364	T T	TACACATA others(411): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACACATA TATATGTATACACACACACATATATGTATACACACACATATATATGTATA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	112	0.0089	418	c.62+ others(433): Show c.62+9517_62+9518insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACACATATATATGTATACACACACACATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACACATATA TATGTATACACACACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(411): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCC CCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0223 a0001c0001t0011g0223	1	268	0.0037	418	c.186 others(435): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCTCCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTC CTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18950.hp2 HG00558.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0080 a0001c0001t0001g0108	2	429	0.0047	418	c.353 others(433): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGG GACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGA GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAGAGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(77): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp1 NA18943.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0137 a0003c0005t0001g0098	80	429	0.1865	418	c.353 others(433): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGG GACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGA GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109826	C C	CTCAGCCC others(411): Show CTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTC TCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCC AGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCC CTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGC CCTCCCTCAGTCCCAGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18906.hp1 HG02895.hp1 HG02897.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0120	3	429	0.0070	418	c.353 others(433): Show c.353+224_353+225insTCACTGGGACTGAGGGAGGGCCGGGTGGAA GGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGC TGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGG AGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGG AGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGC ACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGTGCGCTGGGACTGAG GGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGT GGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGA GCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109843	G G	GGCCCTCC others(411): Show GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCC ACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGT GCTCAGCCCTCTCCACCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	429	0.0023	418	c.353 others(433): Show c.353+207_353+208insTGGGTGGAGAGGGCTGAGCACTGGGACTGA GGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGG TGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTG AGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACT GAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCG GGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGC TGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGA CTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGC	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
THBS2_chr6_169210785_169258846	169242883	C C	CTCCCACC others(411): Show CTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTT CCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTC CCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTC CCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCC CACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACATTCCCACCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0205 a0002c0010t0009g0205	1	396	0.0025	418	c.695 others(433): Show c.695-926_695-925insAGGTGGGAATGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGG AAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAG CAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAA GATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG ATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	396	0.0025	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0334 a0001c0016t0005g0334	1	396	0.0025	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCCACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02809.hp2 HG02109.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0001 a0001c0001t0001 a0001c0028t0001	a0001c0001t0001g0049 a0001c0028t0001g0029 a0001c0001t0001g0049 a0001c0028t0001g0029	3	396	0.0076	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(113): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0015	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016 a0001c0023 a0001c0036 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0005c0025 a0005c0049 a0010c0052 a0015c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0002t0002 a0001c0002t0017 a0001c0005t0001 a0001c0005t0003 a0001c0005t0018 a0001c0006t0006 a0001c0006t0027 a0001c0016t0003 a0001c0023t0001 a0001c0036t0001 a0001c0037t0003 a0001c0038t0001 a0001c0044t0003 a0001c0045t0003 a0005c0025t0002 a0005c0025t0023 a0005c0049t0004 a0010c0052t0008 a0015c0042t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 others(97): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0272 a0001c0001t0001g0338 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0139 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0004g0061 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0004g0147 a0001c0001t0004g0155 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0005g0135 a0001c0001t0005g0150 a0001c0001t0005g0202 a0001c0001t0010g0005 a0001c0001t0010g0080 a0001c0001t0010g0222 a0001c0001t0010g0227 a0001c0001t0019g0154 a0001c0001t0028g0192 a0001c0001t0032g0184 a0001c0001t0034g0211 a0001c0001t0036g0140 a0001c0002t0002g0002 a0001c0002t0002g0062 a0001c0002t0002g0088 a0001c0002t0002g0107 a0001c0002t0002g0146 a0001c0002t0002g0159 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0188 a0001c0002t0002g0198 a0001c0002t0017g0223 a0001c0002t0017g0240 a0001c0005t0001g0328 a0001c0005t0003g0308 a0001c0005t0018g0032 a0001c0006t0006g0068 a0001c0006t0006g0113 a0001c0006t0006g0172 a0001c0006t0006g0341 a0001c0006t0027g0179 a0001c0016t0003g0144 a0001c0023t0001g0127 a0001c0023t0001g0149 a0001c0036t0001g0333 a0001c0037t0003g0141 a0001c0038t0001g0160 a0001c0044t0003g0058 a0001c0045t0003g0145 a0005c0025t0002g0110 a0005c0025t0023g0078 a0005c0049t0004g0109 a0010c0052t0008g0206 a0015c0042t0001g0152	116	396	0.2929	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377417	C C	CCTGTGCC others(411): Show CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	370	0.0027	418	c.-14 others(429): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
THEG_chr19_356747_381026	377498	T T	TGTGCCCC others(411): Show TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	370	0.0027	418	c.-15 others(429): Show c.-1529_-1528insGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1473		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747451	G G	GCTGGGGT others(411): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0093 a0001c0001t0054g0093	1	314	0.0032	418	c.189 others(433): Show c.189-862_189-861insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747673	G G	GCACTGGG others(411): Show GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	314	0.0032	418	c.189 others(433): Show c.189-652_189-651insACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNR_chr1_175310194_175748595	175650927	C C	CCTCATTA others(411): Show CCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTA CTCCCCCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCC CCACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTC ATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCC TCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCA TTACTCCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCTTACTA CCCCTCCCCCACCTCATTACTACCCATCTCCCACCTCATTCCTCCTCCTC CCCACCTCATTACTACCCCTCTCCCACCTCATTACTACCCCTCCCCACCT CATTACTACTCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0048 a0002c0006t0048	a0002c0006t0048g0007 a0002c0006t0048g0007	1	132	0.0076	418	c.-16 others(439): Show c.-165+92298_-165+92299insATGGGGAGGAGTAGTAATGAGGTG GGGAGGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGA GGAGGAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTA AGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGT GGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGG GGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGGGGGAGTAATG AGATGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TNR_chr1_175310194_175748595	175650988	C C	CTCATTAC others(411): Show CTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCCCCACCTCATTA CTACCCCTCCCCACCTCATTACTACCCCTCCCCATCTCATTACTCCCCCC CACCTCATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTAC TACCCCTCCCCATCTCATTACTCCTCCTCCCCCATCTCATTACTACCTGT CCCCCACCTCCTTACTACCCCTCCCCCACCTCATTACTACCCATCTCCCA CCTCATTCCTCCTCCTCCCCACCTCATTACTACCCCTCTCCCACCTCATT ACTACCCCTCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCC TCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCA TTACTCCTCCTCCCTTACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0062 a0002c0008t0006g0062	1	132	0.0076	418	c.-16 others(439): Show c.-165+92237_-165+92238insAGTAAGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGAGGGGTAGTAATGA GGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGAGGAGGAATGAGGTGGGA GATGGGTAGTAATGAGGTGGGGGAGGGGTAGTAAGGAGGTGGGGGACAGG TAGTAATGAGATGGGGGAGGAGGAGTAATGAGATGGGGAGGGGTAGTAAT GAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGGG GAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGAGGGGTAGTAATG AGGTGGGGAAGGTGGAATAATGAGGTGGGGAGGGGTAGTAATGA	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01884.hp1 others(18): Show HG00741.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA21309.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0013 a0009c0005 a0001c0001 a0005c0013 a0009c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0005c0013t0019 a0009c0005t0031	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0006g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0006g0001 a0005c0013t0019g0001 a0009c0005t0031g0007	21	408	0.0515	418	c.-41 others(429): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATACAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(411): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(117): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19057.hp2 NA19059.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0014t0003 a0002c0002t0006 a0002c0002t0008 a0003c0003t0005 a0003c0003t0010 a0004c0004t0002 a0004c0004t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0007g0001 a0001c0001t0007g0009 a0001c0001t0009g0001 a0001c0014t0003g0001 a0002c0002t0006g0003 a0002c0002t0008g0003 a0003c0003t0005g0004 a0003c0003t0010g0005 a0004c0004t0002g0001 a0004c0004t0006g0001	120	408	0.2941	418	c.-41 others(429): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(411): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTG GGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	418	c.48 others(429): Show c.4849_*4850insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4628		chr11	TogoVar
TPSB2_chr16_1223336_1235184	1231355	C C	CCCCAGCT others(411): Show CCCCAGCTCCAGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCC CATCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTCACCC CCAGCCCCAGCCCAGCTCCCCATGGACTAGTCGCAGCCCCCGGCCCCAGC TCCCCATGGTCTCACCCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCC CAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTA GTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCTCCAGCC CAGCTCCCCATGGACTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03195.hp2 others(2): Show HG01884.hp1 HG02970.hp1 HG03195.hp2 HG06807.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0002 a0002c0002t0002 a0005c0005t0002	a0002c0002t0002g0011 a0005c0005t0002g0040 a0002c0002t0002g0011 a0005c0005t0002g0040	5	344	0.0145	418	c.-11 others(429): Show c.-1195_-1194insACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGG TGAGACCATGGGGAGCTGGGGCCGGGGGCTGGGACTAGTCCATGGGGAGC TGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGGGAC TAGTCCATGGGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGC TGCGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGG GAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTG GGGGTGAGACCATGGGGAGCTGGGGCCGGGGGATGGGACTAGTCCATGGG GAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTG GGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1172		chr16	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(411): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTATACATGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATATATGT ATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	388	0.0026	418	c.-23 others(435): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACACGCGCGTGTATGTATACATATATACATGTATACATATATACACATA CATACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACA TGTAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(411): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTAT ACATGTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGT ATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	388	0.0026	418	c.-23 others(435): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACA TGTAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRARG1_chr17_1274662_1305978	1288868	C C	CAGGTTCC others(411): Show CAGGTTCCCCATCCCCCACTGGGTTCCCCATCCCCCACAGGCTCCCCATC CCCCTCCAGCTTCTCATCCCCCACGGGTTCCCCATCCCCCACGGGTTCCC CATCCCCCACCAGACTCCCCATCCCCCACGGGTTCCCCATCCCCCACCGG ACTCCCCATCCCCCACCGGACTCCCCATCCCCCACGGGCTCCCCATCCCC CACGGGCTCCTCATCCCCCACAGGTTCCCCATCCCCCACGGGCTCCCCAT CCCCCACGGGCTCCCCATCCCCCTCCAGCTTCTCATCCCCCACGGGTTCC CATCCCCCACGGGTTCCCCATCCCCCACGGGCTCCTCATCCCCCACGGGT TCCCCATCCCCCACTGGGTTCCCCATCCCCCACAGGCTCCCCATCCCCCT CCAGCTTCTCATCCCCCAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	402	0.0025	418	c.388 others(435): Show c.388-6623_388-6622insAGGTTCCCCATCCCCCACTGGGTTCCCC ATCCCCCACAGGCTCCCCATCCCCCTCCAGCTTCTCATCCCCCACGGGTT CCCCATCCCCCACGGGTTCCCCATCCCCCACCAGACTCCCCATCCCCCAC GGGTTCCCCATCCCCCACCGGACTCCCCATCCCCCACCGGACTCCCCATC CCCCACGGGCTCCCCATCCCCCACGGGCTCCTCATCCCCCACAGGTTCCC CATCCCCCACGGGCTCCCCATCCCCCACGGGCTCCCCATCCCCCTCCAGC TTCTCATCCCCCACGGGTTCCCATCCCCCACGGGTTCCCCATCCCCCACG GGCTCCTCATCCCCCACGGGTTCCCCATCCCCCACTGGGTTCCCCATCCC CCACAGGCTCCCCATCCCCCTCCAGCTTCTCATCCCCCAT	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	1/2			chr17	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(411): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	334	0.0030	418	c.657 others(433): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TULP4_chr6_158307465_158516828	158449517	T T	TGAAAAAT others(411): Show TGAAAAATGCTGTGCTATTACTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	268	0.0037	418	c.724 others(433): Show c.724+360_724+361insCTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAAAATGCTGTGCTATTA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870175	C C	CACACACA others(411): Show CACACACACCACACCCCACACACACCCCACACACACCACACACCCCCCAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACACCACACACCCCACACACACCACACAAA CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACAAACCACACACACCACACACCCCACACACAC CACACACACACATCACATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	338	0.0030	418	c.35 others(437): Show c.35+21442_*35+21443insACACACACCACACCCCACACACACCC CACACACACCACACACCCCCCACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACAAACCACACACACCAC ACACCCCACACACACCACACAAACCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACAAACCACA CACACCACACACCCCACACACACCACACACACACATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(411): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATATTTATATATTATATTTATGTAATATATATTTATATATTATATTTATG TAATATATATTTATATATTATATTTATGTAATATATATTTATATATTATA TTTATGTAATATATATTTATATATTATATTTATGTAATATATATTTATAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTATATATTATATTTAT GTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0115 a0001c0006t0007g0115	1	204	0.0049	418	c.213 others(437): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAAATATAT ATTATATATTACATAAATATAATATATAAATATATATTATATATTACATA AATATAATATATAAATATATATTATATATTACATAAATATAATATATAAA TATATATTACATAAATATAATATATAAATATATATTACATAAATATAATA TATAAATATATATTACATAAATATAATATATAAATATATATTACATAAAT ATAATATATAAATATATATTACATAAATATAATATATAAATATATATTAC ATAAATATAATATATAAATATATATTATATATTACATAAATATAATATAT AAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(411): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATATTTATATATTATATTTATGTAATATATATTTATATATTATATTTATG TAATATATATTTATATATTATATTTATGTAATATATATTTATATATTATA TTTATGTAATATATATTTATATATTATATTTATGTAATATATATTTATAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATATTATATTTATGTAATATATAATATATATTTATATATTATATTTA TGTAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19007.hp2 NA19062.hp1 NA18952.hp2 NA19007.hp2 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0007 a0001c0006t0007 a0001c0004t0007 a0001c0006t0007	a0001c0004t0007g0093 a0001c0004t0007g0135 a0001c0006t0007g0089 a0001c0004t0007g0093 a0001c0004t0007g0135 a0001c0006t0007g0089	3	204	0.0147	418	c.213 others(437): Show c.2136+5973_2136+5974insATATATATTATATATTACATAAATAT AATATATAAATATATATTATATATTACATAAATATAATATATAAATATAT ATTATATATTACATAAATATAATATATAAATATATATTATATATTACATA AATATAATATATAAATATATATTATATATTACATAAATATAATATATAAA TATATATTACATAAATATAATATATAAATATATATTACATAAATATAATA TATAAATATATATTACATAAATATAATATATAAATATATATTACATAAAT ATAATATATAAATATATATTACATAAATATAATATATAAATATATATTAC ATAAATATAATATATAAATATATATTATATATTACATAAATATAATATAT AAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(411): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	341	0.0029	418	c.35 others(427): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(411): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG02300.hp1 others(1): Show HG00733.hp2 HG00735.hp1 HG02300.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0004 a0001c0001t0001 a0001c0002t0002 a0001c0005t0004	a0001c0001t0001g0219 a0001c0002t0002g0053 a0001c0005t0004g0032 others(1): Show a0001c0001t0001g0219 a0001c0002t0002g0053 a0001c0005t0004g0032 a0001c0005t0004g0034	4	336	0.0119	418	c.357 others(437): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(411): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	326	0.0031	418	c.483 others(433): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB42_chr14_104796101_104809712	104807806	G G	GAGCACCC others(411): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	418	c.53 others(429): Show c.5340_*5341insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3095		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104807844	G G	GAGCACCC others(411): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	418	c.53 others(429): Show c.5378_*5379insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3133		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808072	C C	CAGCACCC others(411): Show CAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	418	c.56 others(429): Show c.5606_*5607insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACAG	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3361		chr14	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(411): Show TATATATGTATATATGTACATATGTATATATATATGTATATATGTACATA TGTATATATATGTATATATGTATATATACATATGTATATATATGTACATA TGTATATATATACATGTATACATATGTATACATGTATATATATACATATG TATACATGTATATATGTATATATATACATGTATACATATGTATATATGTA TACATATGTATATATGTATATATGTATAAATATACATATGTATATATATG TATATATGTATACATATGTATATATACATATGTATATATATGTATATATG TATACATATGTATATATACATATGTATATATATGTATACATATGCATATA TACATATGTATATATATGTATATATGTATACATATGTATATATGCATATA TATACATATGTATATATGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	165	0.0061	418	c.-15 others(439): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATATGTATATATGTACATATGTATATATATGTATATATGTATATATAC ATATGTATATATATGTACATATGTATATATATACATGTATACATATGTAT ACATGTATATATATACATATGTATACATGTATATATGTATATATATACAT GTATACATATGTATATATGTATACATATGTATATATGTATATATGTATAA ATATACATATGTATATATATGTATATATGTATACATATGTATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATACATATGTATAT ATATGTATACATATGCATATATACATATGTATATATATGTATATATGTAT ACATATGTATATATGCATATATATACATATGTATATATGCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC20_chr13_21367571_21464303	21377234	A A	ACTCTGCC others(411): Show ACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCC CGACATGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTGCCCGACGTGACCTCCACCCC TAGTGCCTGCGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTGCCT GCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTG ACTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCG ACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACC TCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGACCTCCACCCC TAGTGCCTGCGATCTGACT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0020 a0001c0003t0013g0020	1	302	0.0033	418	c.41 others(433): Show c.41-580_*41-579insAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGCAGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTC AGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATCGCAGG CACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGG GTGGAGGTCATGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGTCGGGCAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGC AGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCATGTCGGGCAGAGTCAG ATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(411): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACA TATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACG TATACATATGTATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18952.hp1 NA18953.hp1 others(7): Show HG01433.hp1 NA18952.hp1 NA18953.hp1 NA18984.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19064.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0089 a0002c0002t0003g0012 a0001c0001t0001g0003 a0001c0001t0001g0089 a0002c0002t0003g0012	10	270	0.0370	418	c.46 others(429): Show c.4686_*4687insGTGTATATACATATGTATACGTATACACGTGTAT ATACATATGTATACGTATACACGTGTATATACATATGTATACGTATACAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(412): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	419	c.-10 others(430): Show c.-1083_-1082insGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(412): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	419	c.-10 others(430): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(412): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGG CTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACC CCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCC GCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0004 a0002c0031t0004	a0002c0031t0004g0051 a0002c0031t0004g0051	1	276	0.0036	419	c.535 others(436): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGT CTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTC GGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGG GGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGG GGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGT CAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGG AGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCCTCCCCTCCTCCCCCCGTCCCCTC CTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGGGAGGAGGGGGACGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCGTCCCCCTCCT CCCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	352	0.0028	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(412): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 homoSapiens_chm13v2.hp1 HG03486.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0001 a0001c0001t0028 a0001c0002t0001	a0001c0001t0028g0100 a0001c0002t0001g0004 a0001c0001t0028g0100 a0001c0002t0001g0004	2	352	0.0057	419	c.51 others(430): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCC CCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCC CTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar

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Search Results (Total: 10000 hits)