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
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(298): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCA TCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACC CCACAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	224	0.0045	305	c.225 others(324): Show c.2251+1798_2251+1799insGTGTGGGGTCTTCAGGATGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028754	C C	CCCCACAC others(298): Show CCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ACACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACA CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCC TGAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0115 a0005c0005t0002g0115	1	224	0.0045	305	c.225 others(324): Show c.2251+1675_2251+1676insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGG ATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870184	A A	ACCACACC others(298): Show ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACAAACCACACACACCACACACCCC ACACACACCACACAAACCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACAAACCACACACACCA CACACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	338	0.0030	305	c.35 others(324): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACCCCACACACACCACACAAACCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACAAACCACACACACCACACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(298): Show TGGATGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGGTGGATG AATGGGTGGGTAGGTGGATGGATGGGTGGGTAGGTGTGTGGGTGGATGGA TGGATAGATGGGTGGGTGCGTGGATGAATGGATGGATGGATGAATGGATG GATGGGTGGGTGGATGGATGGATGGATGGATGGATGGGTGGGTGGGTGGA TGAATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGGTG GAGGGTGAGTGGGTGGGTGGATGGGTGGATGGATGGATGTGTGGGTGGAT GGATGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0043 a0007c0010t0010g0043	1	376	0.0027	305	c.193 others(320): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCA TCCATCCATCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATT CATCCACGCACCCACCCATCTATCCATCCATCCACCCACACACCTACCCA CCCATCCATCCACCTACCCACCCATTCATCCACCCACCCATTCATCCATC CACCCATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
UCKL1_chr20_63934829_63961416	63942110	A A	GCAGCGGC others(298): Show GCAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGA AAAGAGGCGTGACAGCGGCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGT GGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGG AAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGACAGGGAAAGA GGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	356	0.0028	305	c.924 others(320): Show c.924-902_924-901insCACGCCTCTTTTCTGCCCTGCCACACCCCA TTTCCGGCCCCGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCT GCCACACCCCATTTCCGGCCCCGCCTCTTTCCCTGTCGCTGTCACGCCTC TTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCCCTGCCGC TGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCT TCCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCG GCCCCGCCCCTTTCCCTGCCGCTGC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942138	G G	GAATGGGG others(298): Show GAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGACAGGGAAAGAGGCGGGGCCGGAAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGG GCCGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG00621.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0164 a0001c0001t0001g0035 a0001c0001t0001g0164	2	356	0.0056	305	c.924 others(320): Show c.924-931_924-930insTCCGGCCCCGCCTCTTTCCCTGCCGCTGTC ACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCC CTGTCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCC CGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCC ATTCCCGGCCCCGCCCCTTCCCCTGCCGCTGTCACGCCTCTTTTCTGCCC TGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCT CTTTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942138	G G	GAATGGGG others(298): Show GAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGGAAGGGGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAG GCGTGACAGCGGCAGGGAAAGAGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGACAGGGAAAGAGGCGGGGCCGGAAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGAGGCGGG GCCGGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	356	0.0028	305	c.924 others(320): Show c.924-931_924-930insTCCGGCCCCGCCTCTTTCCCTGCCGCTGTC ACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCCCGCCTCTTTCC CTGTCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTTCCGGCCC CGCCTCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCC ATTCCCGGCCCCGCCCCTTCCCCTGCCGCTGTCACGCCTCTTTTCTGCCC TGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCT CTCTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
VCX2_chrX_8164944_8176267	8169595	T T	TCCTCCCT others(298): Show TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCACCACACACCACCTC TTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0010 a0004c0004t0003g0010	1	115	0.0087	305	c.43 others(314): Show c.436_*437insGAGGAAGAGGTGGTGTGTGGTGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		348		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605312	C C	CCACAGCT others(298): Show CCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCA AAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAAT TCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACA GCTCTGTGAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCCACCCCCA ATCCTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0250 a0001c0002t0007g0252 a0001c0002t0007g0250 a0001c0002t0007g0252	2	388	0.0052	305	c.83- others(320): Show c.83-3291_83-3290insTAGGATTGGGGGTGGGCGGGGGCGTGGGGG GCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGG GGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGG GGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAAT TCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTT GGAAGATGGAATTCACAGAGCTGTG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS13B_chr8_99008274_99882580	99145582	T T	TTGCTCAT others(298): Show TTGCTCATTAAAACTACACATCTATCAGAATGGCTAAAATAAAAAGCAGT GACAAAACAAAATGCTGGGAAGATGTAAAGAAGCTGGATCACACAGTCAT CGTTGGATGGTAATGTAAAATGGTATGGCCACTCCTGAAAACAGCTTGGT AGTTTCTTTAAAAAAAAATAATAAACATGCAACTACCATATGACCCAGCA ATTTATCCTGAAGAAATGTTTACACAAAAACCAGTACACAACTGTTCAGA GCAGCATTATTTGTAATAGCCCAAAACTAGAATAATCCCAAATATTCTTC CATAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0024 a0002c0003t0003g0024	1	134	0.0075	305	c.184 others(324): Show c.1844-2257_1844-2256insCTCATTAAAACTACACATCTATCAGA ATGGCTAAAATAAAAAGCAGTGACAAAACAAAATGCTGGGAAGATGTAAA GAAGCTGGATCACACAGTCATCGTTGGATGGTAATGTAAAATGGTATGGC CACTCCTGAAAACAGCTTGGTAGTTTCTTTAAAAAAAAATAATAAACATG CAACTACCATATGACCCAGCAATTTATCCTGAAGAAATGTTTACACAAAA ACCAGTACACAACTGTTCAGAGCAGCATTATTTGTAATAGCCCAAAACTA GAATAATCCCAAATATTCTTCCATAAGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	13/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(298): Show ACAGGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp2 others(41): Show HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG04204.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 others(38): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0362 a0001c0001t0005g0013 a0001c0001t0005g0239 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0006g0021 a0001c0001t0010g0236 a0001c0001t0017g0357 a0001c0004t0001g0016	44	382	0.1152	305	c.143 others(320): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(298): Show ACAGGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0085 a0001c0001t0018g0083 a0001c0001t0006g0085 a0001c0001t0018g0083	2	382	0.0052	305	c.143 others(320): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCAAGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(298): Show ACAGGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03834.hp2 HG02273.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0326 a0001c0001t0001g0314 a0001c0001t0001g0326	2	382	0.0052	305	c.143 others(320): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(298): Show ACAGGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01070.hp1 others(26): Show HG00408.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02083.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02735.hp2 HG03139.hp1 HG03704.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18975.hp2 NA18982.hp2 NA18999.hp2 NA19068.hp2 NA19070.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0312 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0356	29	382	0.0759	305	c.143 others(320): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(298): Show ACAGGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0234 a0001c0001t0014g0233 a0001c0001t0001g0234 a0001c0001t0014g0233	2	382	0.0052	305	c.143 others(320): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631589	G G	GGACTCAT others(298): Show GGACTCATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(87): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0042 others(86): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0008g0175 a0001c0001t0008g0187 a0001c0001t0012g0169 a0001c0006t0001g0153 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0203	90	382	0.2356	305	c.143 others(320): Show c.143-568_143-567insTTGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAATGAGTC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR64_chr1_241647281_241807777	241675127	C C	CCTCCCTC others(298): Show CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTT CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCTTCCTTCCTGCCTTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0205	1	326	0.0031	305	c.483 others(320): Show c.483+381_483+382insTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCT TCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTTCTTCCTTCCTGCCTTCCTTCCTTCCTCCCTC CCTTCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTTC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR86_chr7_151376124_151415038	151397641	G G	GGCATAGC others(298): Show GGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGA GGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGG AGGAAGAGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTA GTGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGG GTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGA AGAGGGTGTAGCAGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGA GGAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0252 a0003c0009t0001g0252	1	458	0.0022	305	c.306 others(322): Show c.306-1446_306-1445insTCTTCCTCCCGCTATGCCCTTCCTCCCG CTATGCCCTTCCTCCTGCTACACCCTCTTCCTCCCGCTACACCCTCTTCC TCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCCT CTTCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTAC ACCCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCTCTTCCTCCCGC TATGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACACCCTCTTCCTCC CGCTACACCCTCTTCCTCCCGCTATGC	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(298): Show TATTATATATATATATAATATATATATTATATATATATAATATATATATT ATATATATATAATATATATATTATATATATATATAATATATATATATTAT ATATATATATAATATATATATATTATATATATATATAATATATATATATT ATATATATAATATATATATTATATATATATATTATATATATATTATATAA TATAATATTATTATATATTATATAATATATATATAATATATATAATATAT AATATATATAATATATATATTATATATATATATTATATATATATATATAG AGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0010 a0004c0003t0003g0010	1	330	0.0030	305	c.37 others(316): Show c.3793_*3794insCTCTCTCTATATATATATATATAATATATATATA TAATATATATATTATATATATTATATATTATATATATTATATATATATTA TATAATATATAATAATATTATATTATATAATATATATATAATATATATAT ATAATATATATATTATATATATAATATATATATATTATATATATATATAA TATATATATATTATATATATATATAATATATATATATTATATATATATAT AATATATATATTATATATATATAATATATATATTATATATATATAATATA TATATTATATATATATATAAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZFPM1_chr16_88448280_88542031	88460964	G G	GCCTGGTG others(298): Show GCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGA TGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGAC CGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTG GTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCC CTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGC GGGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0017 a0002c0008t0013g0017	1	318	0.0031	305	c.40+ others(320): Show c.40+7305_40+7306insCGGGAGGCCCTGGTGAGGACCCAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGA TGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGAC CGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTG GTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCC CTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGC GGGAGACCTGGTGAGGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461035	G G	GGACCGAG others(298): Show GGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGG TGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGG AGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTG GGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACC CAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGG ACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCT GGTGAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03710.hp2 NA18966.hp1 others(1): Show HG01993.hp1 HG03710.hp2 NA18966.hp1 NA18967.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0006 a0001c0001t0001 a0001c0001t0004 a0004c0004t0006	a0001c0001t0001g0258 a0001c0001t0004g0166 a0004c0004t0006g0010 others(1): Show a0001c0001t0001g0258 a0001c0001t0004g0166 a0004c0004t0006g0010 a0004c0004t0006g0110	4	318	0.0126	305	c.40+ others(320): Show c.40+7493_40+7494insTGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGC GGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGG GGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAG GACCGAGGGGCGGGAGACCTGGTGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AACATATA others(298): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAATATATAATATATATGTTATATATAT TATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03490.hp1 HG03492.hp1 HG02165.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062	3	92	0.0326	305	c.41- others(322): Show c.41-38284_41-38283insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAATATAT AATATATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(298): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTT GGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAG GTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATC TGTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0084 a0001c0014t0001g0084	1	346	0.0029	305	c.542 others(322): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTC GTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGT TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGGTGTGATCTGTGACATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF320_chr19_52871180_52902635	52888471	G G	GTAAACAA others(298): Show GTAAACAATACAAGAAAGAAATAAAAAATCAATGCAGAGCTCCTGTTACA GAGATGCTTGAAACTTTTATGGACACACCAAGTGACATTCGGTATCTCGA TGCTACACAGCATGAGTGACGTCTTCAAAGATGACAACGTCCACAGTTAA AGATCAGCTGGGCGCAGTGACATATGTCTGTAATCCCAGCTACATGGGAG GCTGAGGCAGGAGAATGGCTTGATCCTGGGAGGCAGAGGTTGCCGTGATC CCAGATTGCATCACTGTACTACAGCGTGGGCAACAGAAACTCCATCTCAA AAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0035 a0001c0002t0034 a0001c0002t0035	a0001c0002t0034g0162 a0001c0002t0035g0161 a0001c0002t0034g0162 a0001c0002t0035g0161	2	442	0.0045	305	c.16- others(318): Show c.16-219_16-218insTCTTTTTTGAGATGGAGTTTCTGTTGCCCACG CTGTAGTACAGTGATGCAATCTGGGATCACGGCAACCTCTGCCTCCCAGG ATCAAGCCATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGACA TATGTCACTGCGCCCAGCTGATCTTTAACTGTGGACGTTGTCATCTTTGA AGACGTCACTCATGCTGTGTAGCATCGAGATACCGAATGTCACTTGGTGT GTCCATAAAAGTTTCAAGCATCTCTGTAACAGGAGCTCTGCATTGATTTT TTATTTCTTTCTTGTATTGTTTA	ZNF320	ENSG00000182986.15	transcript	ENST00000682928.1	protein_coding	4/5			chr19	TogoVar
ZNF320_chr19_52871180_52902635	52888471	G G	GTAAACAA others(298): Show GTAAACAATACAAGAAAGAAATAAAAAATCAATGCAGAGCTCCTGTTACA GAGATGCTTGAAACTTTTATGGACACACCAAGTGACATTCGGTATCTCGA TGCTACACAGCATGAGTGACGTCTTCAAAGATGACAACGTCCACAGTTAA AGATCAGCTGGGCGCAGTGACATATGTCTGTAATCCCAGCTACATGGGAG GCTGAGGCAGGAGAATGGCTTGATCCTGGGAGGCAGAGGTTGCCGTGATC CCAGATTGCATCACTGTACTCCAGCGTGGGCAACAGAAACTCCATCTCAA AAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(188): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0016 a0002c0018 a0005c0014 a0007c0015	a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 others(40): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0025 a0001c0002t0027 a0001c0002t0032 a0001c0002t0033 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0065 a0001c0003t0003 a0001c0003t0004 a0001c0003t0017 a0001c0003t0018 a0001c0003t0021 a0001c0003t0030 a0001c0003t0040 a0001c0003t0041 a0001c0003t0043 a0001c0003t0045 a0001c0003t0052 a0001c0003t0064 a0001c0003t0066 a0001c0003t0067 a0001c0003t0068 a0001c0003t0069 a0001c0003t0071 a0001c0003t0072 a0001c0004t0005 a0001c0004t0024 a0001c0004t0026 a0001c0004t0042 a0001c0004t0044 a0001c0004t0050 a0001c0005t0020 a0001c0016t0003 a0002c0018t0010 a0005c0014t0005 a0007c0015t0062	a0001c0002t0002g0010 a0001c0002t0002g0018 a0001c0002t0002g0026 others(141): Show a0001c0002t0002g0010 a0001c0002t0002g0018 a0001c0002t0002g0026 a0001c0002t0002g0031 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0080 a0001c0002t0002g0122 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0151 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0242 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0010g0185 a0001c0002t0010g0187 a0001c0002t0010g0194 a0001c0002t0010g0213 a0001c0002t0010g0216 a0001c0002t0011g0180 a0001c0002t0011g0203 a0001c0002t0011g0217 a0001c0002t0011g0220 a0001c0002t0011g0272 a0001c0002t0012g0059 a0001c0002t0012g0183 a0001c0002t0012g0195 a0001c0002t0012g0284 a0001c0002t0015g0107 a0001c0002t0015g0112 a0001c0002t0015g0116 a0001c0002t0015g0117 a0001c0002t0025g0208 a0001c0002t0025g0209 a0001c0002t0027g0123 a0001c0002t0027g0190 a0001c0002t0032g0184 a0001c0002t0033g0191 a0001c0002t0036g0207 a0001c0002t0037g0182 a0001c0002t0038g0174 a0001c0002t0039g0181 a0001c0002t0065g0108 a0001c0003t0003g0009 a0001c0003t0003g0011 a0001c0003t0003g0016 a0001c0003t0003g0036 a0001c0003t0003g0038 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0003t0003g0098 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0104 a0001c0003t0003g0110 a0001c0003t0003g0113 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0235 a0001c0003t0004g0095 a0001c0003t0017g0129 a0001c0003t0017g0160 a0001c0003t0017g0231 a0001c0003t0018g0040 a0001c0003t0018g0131 a0001c0003t0021g0179 a0001c0003t0021g0205 a0001c0003t0021g0206 a0001c0003t0030g0237 a0001c0003t0030g0239 a0001c0003t0040g0132 a0001c0003t0041g0126 a0001c0003t0043g0127 a0001c0003t0045g0124 a0001c0003t0052g0283 a0001c0003t0064g0238 a0001c0003t0066g0102 a0001c0003t0067g0103 a0001c0003t0068g0115 a0001c0003t0069g0106 a0001c0003t0071g0114 a0001c0003t0072g0105 a0001c0004t0005g0004 a0001c0004t0005g0137 a0001c0004t0005g0138 a0001c0004t0005g0140 a0001c0004t0005g0141 a0001c0004t0005g0144 a0001c0004t0005g0146 a0001c0004t0005g0147 a0001c0004t0005g0153 a0001c0004t0005g0159 a0001c0004t0024g0041 a0001c0004t0026g0142 a0001c0004t0026g0145 a0001c0004t0042g0143 a0001c0004t0044g0139 a0001c0004t0050g0250 a0001c0005t0020g0025 a0001c0016t0003g0111 a0002c0018t0010g0186 a0005c0014t0005g0136 a0007c0015t0062g0275	191	442	0.4321	305	c.16- others(318): Show c.16-219_16-218insTCTTTTTTGAGATGGAGTTTCTGTTGCCCACG CTGGAGTACAGTGATGCAATCTGGGATCACGGCAACCTCTGCCTCCCAGG ATCAAGCCATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGACA TATGTCACTGCGCCCAGCTGATCTTTAACTGTGGACGTTGTCATCTTTGA AGACGTCACTCATGCTGTGTAGCATCGAGATACCGAATGTCACTTGGTGT GTCCATAAAAGTTTCAAGCATCTCTGTAACAGGAGCTCTGCATTGATTTT TTATTTCTTTCTTGTATTGTTTA	ZNF320	ENSG00000182986.15	transcript	ENST00000682928.1	protein_coding	4/5			chr19	TogoVar
ZNF320_chr19_52871180_52902635	52888471	G G	GTAAACAA others(298): Show GTAAACAATACAAGAAAGAAATAAAAAATCAATGCAGAGCTCCTGTTACA GAGATGCTTGAAACTTTTATGGACACACCAAGTGACATTCGGTATCTCGA TGCTACACAGCATGAGTGACGTCTTCAAAGATGACAACGTCCACAGTTAA AGATCAGCTGGGCGCAGTGACATATGTCTGTAATCCCAGCTACATGGGAG GCTGAGGCAGGAGAATGGCTTGATCCTGGGAGGCAGAGGTTGCCGTGATC CCAGATTGTATCACTGTACTCCAGCGTGGGCAACAGAAACTCCATCTCAA AAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02896.hp2 others(3): Show HG01891.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0063 a0001c0006t0013 a0001c0006t0063	a0001c0006t0013g0017 a0001c0006t0013g0121 a0001c0006t0063g0173 a0001c0006t0013g0017 a0001c0006t0013g0121 a0001c0006t0063g0173	6	442	0.0136	305	c.16- others(318): Show c.16-219_16-218insTCTTTTTTGAGATGGAGTTTCTGTTGCCCACG CTGGAGTACAGTGATACAATCTGGGATCACGGCAACCTCTGCCTCCCAGG ATCAAGCCATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGACA TATGTCACTGCGCCCAGCTGATCTTTAACTGTGGACGTTGTCATCTTTGA AGACGTCACTCATGCTGTGTAGCATCGAGATACCGAATGTCACTTGGTGT GTCCATAAAAGTTTCAAGCATCTCTGTAACAGGAGCTCTGCATTGATTTT TTATTTCTTTCTTGTATTGTTTA	ZNF320	ENSG00000182986.15	transcript	ENST00000682928.1	protein_coding	4/5			chr19	TogoVar
ZNF320_chr19_52871180_52902635	52888471	G G	GTAAACAA others(298): Show GTAAACAATACAAGAAAGAAATAAAAAATCAATGCAGAGCTCCTGTTACA GAGATGCTTGAAACTTTTATGGACACACCAAGTGACATTCGGTATCTCGA TGCTACACAGCATGAGTGACGTCTTCAAAGATGACAATGTCCACAGTTAA AGATCAGCTGGGCGCAGTGACATATGTCTGTAATCCCAGCTACATGGGAG GCTGAGGCAGGAGAATGGCTTGATCCTGGGAGGCAGAGGTTGCCGTGATC CCAGATTGCATCACTGTACTCCAGCGTGGGCAACAGAAACTCCATCTCAA AAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00639.hp1 others(48): Show HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03704.hp1 HG03710.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18974.hp1 NA18975.hp1 NA18989.hp2 NA18990.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19063.hp1 NA19070.hp1 NA19075.hp1 NA20752.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0008 others(1): Show a0001c0003 a0001c0005 a0001c0008 a0004c0017	a0001c0003t0004 a0001c0003t0019 a0001c0003t0029 others(6): Show a0001c0003t0004 a0001c0003t0019 a0001c0003t0029 a0001c0003t0047 a0001c0003t0070 a0001c0005t0001 a0001c0005t0008 a0001c0008t0022 a0004c0017t0008	a0001c0003t0004g0002 a0001c0003t0004g0028 a0001c0003t0004g0029 others(25): Show a0001c0003t0004g0002 a0001c0003t0004g0028 a0001c0003t0004g0029 a0001c0003t0004g0039 a0001c0003t0004g0128 a0001c0003t0004g0222 a0001c0003t0004g0223 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0003t0004g0228 a0001c0003t0004g0229 a0001c0003t0004g0230 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0003t0004g0234 a0001c0003t0019g0027 a0001c0003t0029g0050 a0001c0003t0047g0167 a0001c0003t0070g0109 a0001c0005t0001g0130 a0001c0005t0001g0204 a0001c0005t0008g0012 a0001c0005t0008g0163 a0001c0008t0022g0042 a0001c0008t0022g0171 a0004c0017t0008g0156	51	442	0.1154	305	c.16- others(318): Show c.16-219_16-218insTCTTTTTTGAGATGGAGTTTCTGTTGCCCACG CTGGAGTACAGTGATGCAATCTGGGATCACGGCAACCTCTGCCTCCCAGG ATCAAGCCATTCTCCTGCCTCAGCCTCCCATGTAGCTGGGATTACAGACA TATGTCACTGCGCCCAGCTGATCTTTAACTGTGGACATTGTCATCTTTGA AGACGTCACTCATGCTGTGTAGCATCGAGATACCGAATGTCACTTGGTGT GTCCATAAAAGTTTCAAGCATCTCTGTAACAGGAGCTCTGCATTGATTTT TTATTTCTTTCTTGTATTGTTTA	ZNF320	ENSG00000182986.15	transcript	ENST00000682928.1	protein_coding	4/5			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(298): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATCACATGTGATATATAGCATATATATCAT ATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATCAT ATATCATATATATCATATATATCATATATCATATATACCATATATCATAT ATCATATATATCATATATCATATATATCATATGTGATATATATGATATAT ATGATATATATCATATATGATATATATGATATATCACATATATATGATAT ATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	350	0.0029	305	c.-34 others(316): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATCACATGTGATATA TAGCATATATATCATATGTGATATATAGCATATATATCATATGTGATATA TAGCATATATATCATATATCATATATATCATATATATCATATATCATATA TACCATATATCATATATCATATATATCATATATCATATATATCATATGTG ATATATATGATATATATGATATATATCATATATGATATATATGATATATC ACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(298): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATCACATGTGATATATAGCATATATATCAT ATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATCAT ATATCATATATATCATATATATCATATATCATATATATCATATATCATAT ATCATATATATCATATATCATATATATCATATGTGATATATATGATATAT ATGATATATATCATATATGATATATATGATATATCACATATATATGATAT ATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18991.hp2 NA18612.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	350	0.0057	305	c.-34 others(316): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATCACATGTGATATA TAGCATATATATCATATGTGATATATAGCATATATATCATATGTGATATA TAGCATATATATCATATATCATATATATCATATATATCATATATCATATA TATCATATATCATATATCATATATATCATATATCATATATATCATATGTG ATATATATGATATATATGATATATATCATATATGATATATATGATATATC ACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF564_chr19_12520373_12556482	12556260	A A	AAAAAAAA others(298): Show AAAAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	412	0.0024	305	c.-49 others(316): Show c.-4929_-4928insCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTCTTTTTTT	ZNF564	ENSG00000249709.8	transcript	ENST00000339282.12	protein_coding		4779		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCGTGTCT others(299): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	295	0.0034	306	c.49 others(317): Show c.4994_*4995insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3821		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(299): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	295	0.0034	306	c.45 others(317): Show c.4528_*4529insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGGGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACLY_chr17_41861918_41923951	41901500	G G	GAAAATGC others(299): Show GAAAATGCTTTCCCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	294	0.0034	306	c.118 others(323): Show c.1183+195_1183+196insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAGGGAAAGCATTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACP6_chr1_147637230_147675524	147652889	C C	CGATCTCG others(299): Show CGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTCCT GTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCCAA ATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTAACTGGT TTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGCA GTGGCGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03486.hp1 HG02630.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0046 a0001c0003t0018g0182 a0001c0003t0018g0046 a0001c0003t0018g0182	3	404	0.0074	306	c.781 others(321): Show c.781-341_781-340insACGCCACTGCATTCCAACCTGGGTGACAGG GCAAGACTCCATCTCAAAAAAAAAAAAACCAGTTAAACAGGCCAGGCGCG GTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGAT CACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGT AGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGA GGTGGAGCTTGCAGTGAGCCGAGATC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652889	C C	CGATCTCG others(299): Show CGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTCCT GTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCCAA ATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTTACTGGT TTTTTTTTTTTTGACATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGCA GTGGCGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	404	0.0025	306	c.781 others(321): Show c.781-341_781-340insACGCCACTGCATTCCAACCTGGGTGACAGG GCAAGACTCCATGTCAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCG GTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGAT CACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGT AGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGA GGTGGAGCTTGCAGTGAGCCGAGATC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652889	C C	CGATCTCG others(299): Show CGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTCCT GTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCCAA ATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTTACTGGT TTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGCA GTGGCGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02818.hp1 others(6): Show HG02109.hp1 HG02145.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 NA18906.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0006 a0001c0001 a0001c0003 a0004c0006	a0001c0001t0013 a0001c0001t0034 a0001c0003t0039 others(2): Show a0001c0001t0013 a0001c0001t0034 a0001c0003t0039 a0001c0003t0040 a0004c0006t0022	a0001c0001t0013g0024 a0001c0001t0013g0106 a0001c0001t0034g0049 others(3): Show a0001c0001t0013g0024 a0001c0001t0013g0106 a0001c0001t0034g0049 a0001c0003t0039g0097 a0001c0003t0040g0096 a0004c0006t0022g0033	9	404	0.0223	306	c.781 others(321): Show c.781-341_781-340insACGCCACTGCATTCCAACCTGGGTGACAGG GCAAGACTCCATCTCAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCG GTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGAT CACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGT AGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGA GGTGGAGCTTGCAGTGAGCCGAGATC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652895	C C	CGGCTCAC others(299): Show CGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTTTCCTGTCTCA GCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCCAAATTGCT GGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTTACTGGTTTTTTT TTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATGCAGTGGCG TGATCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0064 a0001c0001t0049g0064	1	404	0.0025	306	c.781 others(321): Show c.781-347_781-346insAAGATCACGCCACTGCATTCCAACCTGGGT GACAGGGCAAGACTCCATCTCAAAAAAAAAAAAACCAGTAAAACAGGCCA GGCGCGGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGG GTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGC ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAAAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652919	T T	TGGGTTCA others(299): Show TGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACA GGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGC ACCTGGCCTGTTTTACTGGTTTTTTTTTTTTTGACATGGAGTCTTGCCCT GTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCC ACCTCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	404	0.0025	306	c.781 others(321): Show c.781-371_781-370insGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATGTCAAAAA AAAAAAAACCAGTAAAACAGGCCAGGTGCGGTGGCTCACACCTGTAATCC CAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGG CTGAGACAGGAAAATGGCGTGAACCC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652919	T T	TGGGTTCA others(299): Show TGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACA GGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGC GCCTGGCCTGTTTTACTGGTTTTTTTTTTTTTGACATGGAGTCTTGCCCT GTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCC ACCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(90): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02572.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02896.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0006c0012 a0001c0002 a0001c0005 a0006c0012	a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 others(9): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0029 a0001c0002t0041 a0001c0002t0043 a0001c0005t0002 a0006c0012t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0019 others(40): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0019 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0034 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0066 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0005g0007 a0001c0002t0005g0013 a0001c0002t0005g0151 a0001c0002t0005g0152 a0001c0002t0005g0153 a0001c0002t0005g0154 a0001c0002t0005g0177 a0001c0002t0005g0178 a0001c0002t0015g0030 a0001c0002t0015g0184 a0001c0002t0017g0026 a0001c0002t0020g0040 a0001c0002t0021g0079 a0001c0002t0025g0042 a0001c0002t0029g0052 a0001c0002t0041g0078 a0001c0002t0043g0113 a0001c0005t0002g0039 a0006c0012t0002g0116	93	404	0.2302	306	c.781 others(321): Show c.781-371_781-370insGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATGTCAAAAA AAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACCTGTAATCC CAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGG CTGAGACAGGAAAATGGCGTGAACCC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652922	G G	GTTCACGC others(299): Show GTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGT GCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCAC CCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCC TGGCCTGTTTTACTGGTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTC ACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACC TCCCGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp2 others(9): Show HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0033 a0002c0004t0007 a0002c0004t0048 a0001c0002t0033 a0002c0004t0007 a0002c0004t0048	a0001c0002t0033g0058 a0002c0004t0007g0008 a0002c0004t0007g0104 others(2): Show a0001c0002t0033g0058 a0002c0004t0007g0008 a0002c0004t0007g0104 a0002c0004t0007g0105 a0002c0004t0048g0103	12	404	0.0297	306	c.781 others(321): Show c.781-374_781-373insAGCGGGAGGTGGAGCTTGCAGTGAGCCGAG ATCACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATCTCAA AAAAAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACCTGTAA TCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGG AGGCTGAGACAGGAAAATGGCGTGAA	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652927	C C	CGCCATTT others(299): Show CGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCG CCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTC TCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCC TGTTTTACTGGTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCA GGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCG GGTTCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(17): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0011 a0001c0003 a0001c0007 a0001c0011	a0001c0003t0006 a0001c0003t0026 a0001c0003t0030 others(7): Show a0001c0003t0006 a0001c0003t0026 a0001c0003t0030 a0001c0003t0031 a0001c0003t0032 a0001c0003t0045 a0001c0003t0046 a0001c0003t0047 a0001c0007t0006 a0001c0011t0006	a0001c0003t0006g0020 a0001c0003t0006g0021 a0001c0003t0006g0051 others(11): Show a0001c0003t0006g0020 a0001c0003t0006g0021 a0001c0003t0006g0051 a0001c0003t0006g0059 a0001c0003t0006g0060 a0001c0003t0026g0045 a0001c0003t0030g0050 a0001c0003t0031g0055 a0001c0003t0032g0048 a0001c0003t0045g0062 a0001c0003t0046g0102 a0001c0003t0047g0063 a0001c0007t0006g0032 a0001c0011t0006g0054	20	404	0.0495	306	c.781 others(321): Show c.781-379_781-378insATGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCAT CTCAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACC TGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGG AGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTAC TCAGGAGGCTGAGACAGGAAAATGGC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147652987	C C	CGGCTAAT others(299): Show CGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTTCTCGGCCTCCC AAATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTTACTG GTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTGGAATG CAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCC ATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAC CACGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0053 a0001c0003t0006g0053	1	404	0.0025	306	c.781 others(321): Show c.781-439_781-438insAGGCGTGGTGGCGGGCACCTGTAGTCCCAG CTACTCAGGAGGCTGAGACAGGAAAATGGCATGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGGC AAGACTCCATCTCAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCGGT GGCTCACACCTGTAATCCCAGCAATTTGGGAGGCCGAGAAGGGTGGATCA CGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCC	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653018	G G	AGGGTTTC others(299): Show AGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGAT CCACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACCG CGCCTGGCCTGTTTTACTGGTTTTTTTTTTTTTGACATGGAGTCTTGCCC TGTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGG GACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18999.hp2 NA19058.hp2 others(3): Show NA18955.hp2 NA18999.hp2 NA19058.hp2 NA19072.hp1 NA19082.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0013 a0001c0002 a0003c0013	a0001c0002t0002 a0001c0002t0042 a0003c0013t0002 a0001c0002t0002 a0001c0002t0042 a0003c0013t0002	a0001c0002t0002g0023 a0001c0002t0002g0074 a0001c0002t0042g0084 others(1): Show a0001c0002t0002g0023 a0001c0002t0002g0074 a0001c0002t0042g0084 a0003c0013t0002g0083	6	404	0.0149	306	c.781 others(321): Show c.781-469_781-468insGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGACA GGAAAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCAC GCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATGTCAAAAAAA AAAAAACCAGTAAAACAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCA GCAATTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACACGGTGAAACCCT	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653119	G G	GCCTGGCC others(299): Show GCCTGGCCTGTTTTACTGGTTTTTTTTTTTTTGAGATGGAGTCTTGCCCT GTCACCCAGGTTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTC GTGATCCACCCTTCTCGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGC CACCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(107): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01358.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0003c0014 a0005c0010	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0003t0001 a0001c0008t0010 a0001c0009t0001 a0003c0014t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0009g0009 a0001c0001t0009g0072 a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0085 a0001c0001t0010g0094 a0001c0001t0011g0018 a0001c0001t0011g0056 a0001c0001t0011g0057 a0001c0001t0012g0012 a0001c0001t0016g0028 a0001c0001t0016g0181 a0001c0001t0027g0171 a0001c0001t0027g0172 a0001c0001t0028g0047 a0001c0001t0035g0061 a0001c0001t0058g0156 a0001c0001t0059g0146 a0001c0001t0060g0185 a0001c0003t0001g0170 a0001c0008t0010g0099 a0001c0008t0010g0119 a0001c0009t0001g0122 a0003c0014t0001g0162 a0005c0010t0001g0168	110	404	0.2723	306	c.781 others(321): Show c.781-571_781-570insTGCGGTGGCTCACACCTGTAATCCCAGCAA TTTGGGAGGCCGAGAAGGGTGGATCACGAGGTCAGGAGATTGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGA CAGGAAAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACGCCACTGCATTCCAACCTGGGTGACAGGGCAAGACTCCATCTCAAAAA AAAAAAAACCAGTAAAACAGGCCAGG	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(299): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01928.hp2 others(13): Show HG00280.hp1 HG00738.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG03041.hp1 HG03098.hp1 HG03516.hp1 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0024	a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0037 others(13): Show a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0037 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0067 a0001c0002t0001g0098 a0001c0002t0001g0122 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0064 a0001c0002t0010g0100 a0001c0002t0024g0148	16	338	0.0473	306	c.56- others(321): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(299): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0307 a0001c0005t0011g0307	1	354	0.0028	306	c.523 others(325): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100058157	A A	AGCTCTAA others(299): Show AGCTCTAACCCTCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAAC ACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATC CCGGCTCTAACCCTCCTATCCCAGCTCTTAACACCCCTATCCCGGCTCTT AACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCT ATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTC TAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCC TATCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0095 a0001c0010t0004g0095	1	228	0.0044	306	c.213 others(325): Show c.2138-4104_2138-4103insCGGGATAGGGGTGTTAAGAGCCGGGA TAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGAGGGTT AGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGA TAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTG TTAAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGGTGTTAGAGCC GGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGG GTGTTAGAGCCGGGATAGGAGGGTTAGAGC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(299): Show AGGGAGGAGGGGAGGGAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGAGGAGGGGGAGGGGGGAGGAGGGAGGAGGGAGGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGG AGGAGGGAAGGGAGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGA GGGACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	352	0.0028	306	c.51 others(317): Show c.5172_*5173insCCGTCCCTCCTCCCCGCCCTCCCCTCCTCCCCCC TCCCCCTCCCTCCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC TCCCCCTTCCCTCCTCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCT CCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCCTCCCTCCTCCCTCCTCCC CCCTCCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCC TCCTCCCTCCTCCCCCTCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCC TCCCTCTCCCTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1327002	T T	TGCCCAGC others(299): Show TGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGCCTCC CCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGC CTCCCCACGGCCCAGCGCCTCCCCACTGCACAGCGCCTCCCCACTGCCCA GCGCCTCCCCACGGCAAAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTG CCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCC ACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCT CCCCACG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	106	0.0094	306	c.107 others(327): Show c.1077+36025_1077+36026insCGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCG TGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGG GCAGTGGGGAGGCGCTTTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCG CTGTGCAGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGTGCCGTGGGGA GGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTG GGGAGGCGCTGGGCCGTGGGGAGGCGCTGGGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460168	G G	GAGTTTAC others(299): Show GAGTTTACCTGTGTAACAAACCTGCCTGTGACCTCAGTTTACCTGTGTAA CAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGAC CTCAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGT AACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTG ACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGT GTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTG TGACCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	106	0.0094	306	c.101 others(325): Show c.101-81009_101-81008insGAGGTCACAGGCAGGTTTGTTACACA GGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTCAC AGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACA CAGGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTC ACAGGCAGGTTTGTTACACAGGTAAACTGAGGTCACAGGCAGGTTTGTTA CACAGGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTGAGG TCACAGGCAGGTTTGTTACACAGGTAAACT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar

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Search Results (Total: 10000 hits)