Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMF1_chr16_848634_975984	858892	C C	CAGTGGTG others(200): Show CAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGT GGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTG TCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	294	0.0034	207	c.153 others(226): Show c.1530-4187_1530-4186insCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCC GTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCC CGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAG ACACCACTCGCACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC122319696_chrX_149409877_149420506	149418501	T T	TATATATA others(200): Show TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATATTATATATATATCATATATATAATATATATTATATTATATATATAT CATATATATAATATATATTATATTATATATATATCATATATATAATATAT ATTATATTATATATATATCATATATATAATATATATTATATTATATATAT ATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02896.hp1 NA18950.hp2 others(4): Show HG00544.hp1 HG02896.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA19011.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	7	313	0.0224	207	c.-30 others(218): Show c.-3025_-3024insTATATTATATATATATAATATAATATATATTATA TATATGATATATATATAATATAATATATATTATATATATGATATATATAT AATATAATATATATTATATATATGATATATATATAATATAATATATATTA TATATATGATATATATATAATATAATATATATTATATATATGATATATAT ATAATATAATATATATTATATAT		LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding					2996		chrX	TogoVar
LRP8_chr1_53237364_53333070	53283674	C C	CACTTACT others(200): Show CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATAC CCGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCG GGCCACTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	296	0.0034	207	c.368 others(224): Show c.368-2960_368-2959insAAGTGGCCCGGTATGTAGTAAGTACGTG GCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTAAGT		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGAGGAAC others(200): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGTCACGGGGGAGGAACAGCGAC ACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	207	c.28 others(218): Show c.2823_*2824insTCCCCCGTGTCGCTGTTCCTCCCCCGTGACGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2615		chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(200): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTT TCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTT CCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTT CTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	436	0.0023	207	c.40 others(218): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGA AAGAAAGAAAGAAAGAAAGTTAG		LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding					3887		chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416284	T T	TATTAATT others(200): Show TATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACA TATTATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATA TTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACATATTA ATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATTA ATTATGTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02683.hp1 HG01175.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0223 a0001c0002t0002g0224 a0001c0001t0002g0223 a0001c0002t0002g0224	2	236	0.0085	207	c.316 others(226): Show c.316+24953_316+24954insGACACATATTAATTATGTAATTAATG ACACATATTATTATGTAATTAATGACACATATTATTATGTAATTAATGAC ACATATTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACA TATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACA TATTAATTATGTAATTAATTATGTAATTAAT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(200): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGG GGAGGGGGGAGGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGG GGAGAGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19058.hp1 NA18960.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0122 a0001c0001t0001g0044 a0001c0001t0001g0122	2	163	0.0123	207	c.525 others(224): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCC TCTCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCTCTCCCCCCTCCCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(200): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGG GGAGAGGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	163	0.0061	207	c.525 others(224): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCTCTCCCCCCTCCCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(200): Show GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGG TTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0003 a0015c0028t0003	a0015c0028t0003g0234 a0015c0028t0003g0234	1	274	0.0037	207	c.224 others(226): Show c.2242-4789_2242-4788insATAACCTCCCTCACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCATAA CCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTCACCTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876908	T T	TAGGGAGG others(200): Show TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0221 a0002c0010t0001g0221	1	274	0.0037	207	c.224 others(226): Show c.2242-4886_2242-4885insCACCTCCATAACCTCCCTCACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCCT CACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCTCACCTCCATAACCTCCCTCACCTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876991	G G	GGGAGGTT others(200): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	274	0.0037	207	c.224 others(226): Show c.2242-4969_2242-4968insATAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877036	G G	GGGAAGTT others(200): Show GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0028 a0028	a0028c0049 a0028c0049	a0028c0049t0001 a0028c0049t0001	a0028c0049t0001g0090 a0028c0049t0001g0090	1	274	0.0037	207	c.224 others(226): Show c.2242-5014_2242-5013insATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAA CCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC CTCCCTCACCTCCATAACCTCCATAACTTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877115	T T	TATGGAGG others(200): Show TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGG CAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGATTA TGGAGGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	274	0.0037	207	c.224 others(226): Show c.2242-5093_2242-5092insCACCTCCATAATCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACTT CCCTAACCTCCCTAACCTCCCTAACCTCCAT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877151	T T	TAGGGAGG others(200): Show TAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGA GATTATGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0012 a0002c0030t0012	a0002c0030t0012g0104 a0002c0030t0012g0104	1	274	0.0037	207	c.224 others(226): Show c.2242-5129_2242-5128insCACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACT GCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAACCT CCATAACCTCCATAACCTCCATAACCTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877202	G G	GGTTAGGG others(200): Show GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0002 a0030c0035t0002	a0030c0035t0002g0225 a0030c0035t0002g0225	1	274	0.0037	207	c.224 others(226): Show c.2242-5180_2242-5179insTTCCCTAACCTCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAG CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877238	G G	GGTTAGGG others(200): Show GGTTAGGGAAGTTAGGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0206 a0002c0003t0004g0206	1	274	0.0037	207	c.224 others(226): Show c.2242-5216_2242-5215insTTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAAC TGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTCACCTCCA TAACCTCCATAACCTCCCTAACTTCCCTAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877264	A A	AGGTTAGG others(200): Show AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTT AGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGA GGTTACGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTA TGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTATGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG02809.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0016 a0002c0005 a0002c0016	a0002c0005t0002 a0002c0016t0002 a0002c0005t0002 a0002c0016t0002	a0002c0005t0002g0233 a0002c0016t0002g0038 a0002c0005t0002g0233 a0002c0016t0002g0038	2	274	0.0073	207	c.224 others(226): Show c.2242-5242_2242-5241insGCCATAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCA TAATCTCCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTCCATAACC TCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCT AACCTCCATAACCTCCCTAACCTCCCTAACC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877342	G G	GGGAGGTT others(200): Show GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	274	0.0037	207	c.224 others(226): Show c.2242-5320_2242-5319insATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAAGTT others(200): Show GGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATG GAGGTTAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0177 a0001c0001t0007g0177	1	274	0.0037	207	c.224 others(226): Show c.2242-5347_2242-5346insATAACCTCCATAACTTCCCTAACCTC CATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTAACTTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(200): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTT CCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	181	0.0055	207	c.107 others(226): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910788	C C	CTTTCCTT others(200): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTTCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	181	0.0055	207	c.107 others(226): Show c.1074-5175_1074-5174insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MIER2_chr19_300573_349796	313044	A A	ACATCAGG others(200): Show ACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCCACCTA CACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCTCCTGG GCGATGTCAGGGCCACCTACACCTCTATCCAGGGACTGGCATCAGGGGCC GTCCACACCACCCTCCTGGGCGATGTCAGAGCCACCTACACCTCTATCCA GGGACTGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01099.hp2 others(1): Show HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0280	4	384	0.0104	207	c.807 others(222): Show c.807+447_807+448insCCAGTCCCTGGATAGAGGTGTAGGTGGCTC TGACATCGCCCAGGAGGGTGGTGTGGACGGCCCCTGATGCCAGTCCCTGG ATAGAGGTGTAGGTGGCCCTGACATCGCCCAGGAGGGTGGTGTGGACGGC CCCTGATGTCACTCCCTGGATAGAGGTGTAGGTGGCCCTGACATCGCCCA GGAGGGTGGTGTGGACGGCCCCTGATG		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13						chr19	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(200): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGTGAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	250	0.0040	207	c.748 others(224): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGATGGTGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1F_chr19_8515778_8582442	8543870	G G	GTGCTGGT others(200): Show GTGCTGGTGCTGGTGGTGGTGCTGGTGGTGGCGGTGGCGGTGGCGGTGGC GGTGGCGGTGGCGGTGGCGGTGGCGGTGCTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	342	0.0029	207	c.152 others(224): Show c.1524+426_1524+427insGCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCA CCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACC AGCACCGCCACCGCCACCGCCACCGCCACCGCCACCGCCACCGCCACCGC CACCACCAGCACCACCACCAGCACCAGCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NAGK_chr2_71063648_71084808	71081020	T T	TTTTATTT others(200): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTT ATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATTTC ATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGATT TGATTTGATTTGATTTTATTTTATTTTATTTGATTTGATTTGATTTTATT TTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0071 a0001c0004t0004g0071	1	442	0.0023	207	c.25 others(218): Show c.2512_*2513insTTTATTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTC ATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATT TGATTTGATTTGATTTGATTTGATTTGATTTTATTTTATTTTATTTGATT TGATTTGATTTTATTTTATTTTA		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1213		chr2	TogoVar
NAGK_chr2_71063648_71084808	71081020	T T	TTTTATTT others(200): Show TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTT ATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATTTC ATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGATT TGATTTTATTTTATTTTATTTGATTTGATTTGATTTGATTTGATTTTATT TTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG06807.hp1 HG01243.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	2	442	0.0045	207	c.25 others(218): Show c.2512_*2513insTTTATTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTC ATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATT TGATTTGATTTGATTTGATTTTATTTTATTTTATTTGATTTGATTTGATT TGATTTGATTTTATTTTATTTTA		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1213		chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667810	T T	TCCCTTAC others(200): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCACGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCACG CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	378	0.0027	207	c.148 others(226): Show c.1480-3061_1480-3060insCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGTGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGTGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NFILZ_chr19_8625633_8686151	8661104	T T	TTCCTTCC others(200): Show TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCC CTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTC CCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTC CTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCC TTCCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0075 a0004c0004t0075	a0004c0004t0075g0199 a0004c0004t0075g0199	1	366	0.0027	207	c.-16 others(228): Show c.-163-13432_-163-13431insCTCCCTTCCTTCCCCCTCCCTCCC TTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCC TCCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCT TCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(200): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGACAGAAAGAAAGAAAGACAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAG ACAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0087 a0002c0005t0001g0087	1	440	0.0023	207	c.319 others(222): Show c.319+282_319+283insCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CTGTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTGTCTTTCTTTCTT		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NME8_chr7_37843597_37905397	37848185	A A	AGAAGAGG others(200): Show AGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAAGAGGAGG AAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAA GAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGA AGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAG AAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0146 a0012c0027t0001g0146	1	388	0.0026	207	c.-78 others(216): Show c.-784_-783insGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAG GAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAGGAAGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGG AAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAA GAAGAGGAAGAAGAAGAAGAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					411		chr7	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(200): Show TAGTAACTATATTAATATTATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp2 NA20905.hp2 others(1): Show HG02818.hp2 NA19043.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 others(1): Show a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0003g0225	4	422	0.0095	207	c.195 others(224): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ATACTAACTATAATATTAATATAGTTACT		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535545	C C	CGGGGCAA others(200): Show CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0155 a0001c0004t0005g0155	1	324	0.0031	207	c.140 others(224): Show c.140+8478_140+8479insTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CTCTCCACCCACCCTGCACTCATTGCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPIPB13_chr16_30217897_30253479	30225441	C C	CGCTGAGG others(200): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGATGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGATGGAG CAGACACTCGGCACGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTG AGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0002 a0014c0030t0002	a0014c0030t0002g0121 a0014c0030t0002g0121	1	145	0.0069	207	c.100 others(216): Show c.1004_1005insTCCACCCTCAGCTCCACCCTCAGCGGATGATAATCT CAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATG ATAATCTCAAGACACCTTCCGAGCATCAGCTCACTCCCCTTCCACCCTCA GCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCTTCCACCCTCAGC	p.Ala others(220): Show p.Ala335_Asp336insProProSerAlaProProSerAlaAspAspAs nLeuLysThrArgAlaGluCysLeuLeuHisProLeuProProSerAlaA spAspAsnLeuLysThrProSerGluHisGlnLeuThrProLeuProPro SerAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLe uArgGlyProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3747/6292	1004/3417	335/1138			chr16	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(200): Show AAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0102 a0001c0001t0011g0102	1	208	0.0048	207	c.-10 others(228): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCCTTTCTT TCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTT		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32						chr7	TogoVar
NXN_chr17_794310_984776	948895	C C	CCCCCCTG others(200): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCCTCCTCTCCCCGTGGCCT CCTCCTCT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	242	0.0041	207	c.360 others(226): Show c.360+30423_360+30424insAGAGGAGGAGGCCACGGGGAGAGGAG GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	949247	C C	CCTCCTCT others(200): Show CCTCCTCTCCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCACCCGGCCTCCTCTCTCCCCCCC GGCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCC CCCTGCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	242	0.0041	207	c.360 others(226): Show c.360+30071_360+30072insAGGCAGGGGGAGAGGAGGAGGCCGGG GGAGAGGAGGAGGCCGGGGGAGAGGAGGAGCCGGGGGGGAGAGAGGAGGC CGGGTGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGGAGAGGAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OLFM1_chr9_135082668_135126180	135096209	A A	ATCCTCCT others(200): Show ATCCTCCTCTTCCTCCTCCCTCTCCTTCTTCTCCTCCTCTTCCTCCTCCC TCTCCTTCTTCTCCTCCTCTTCCCCCTCATCCTCTTCATCCTCCTTTTCC TCCTCCCTCTCCTTCTTCTCCTCCTCTTCCTCCTCCCTCTCCTTCTTCTC CTCCTCTTCCTCCTCCCTCTCCTTCTTCTCCTCCTCTTCCTCCTCCCTCT CCTTCTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0247 a0001c0002t0003g0247	1	360	0.0028	207	c.456 others(222): Show c.456+346_456+347insTCCTCCTCCCTCTCCTTCTTCTCCTCCTCT TCCTCCTCCCTCTCCTTCTTCTCCTCCTCTTCCTCCTCCCTCTCCTTCTT CTCCTCCTCTTCCTCCTCCCTCTCCTTCTTCTCCTCCTCTTCCCCCTCAT CCTCTTCATCCTCCTTTTCCTCCTCCCTCTCCTTCTTCTCCTCCTCTTCC TCCTCCCTCTCCTTCTTCTCCTCCTCT		OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
OR2T12_chr1_248285139_248308424	248306592	C C	CCCTGAGG others(200): Show CCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAGC CCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAGGACTGGA ACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTG GAACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGAC TGGAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02132.hp2 HG02523.hp2 others(9): Show HG02083.hp1 HG02132.hp2 HG02523.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18985.hp1 NA18995.hp1 NA19007.hp2 NA19056.hp1 NA19057.hp2 NA19086.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0024 a0001c0001 a0019c0024	a0001c0001t0001 a0019c0024t0001 a0001c0001t0001 a0019c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0035 a0019c0024t0001g0098	12	406	0.0296	207	c.-34 others(218): Show c.-3437_-3436insCAGCTCCAGTCCTCAGGCGGCTCCTGTCCTCAGG GCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCA GGGCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCAGTCCT CAGGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGCGGCTCCAGTC CTCAGGCGGCTCCAGTCCTCAGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3169		chr1	TogoVar
OTOF_chr2_26452203_26483124	26476493	T T	TCCCCACC others(200): Show TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCCACCCCTTC CCCCACCCCTTCCCCCACCCTCCTTCCCCACCCCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCCTTCCCCCCACCCTTCCCCCACCTCCTTCCCC ACCCCTTC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	330	0.0030	207	c.436 others(222): Show c.436-177_436-176insGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG TGGGGGGAAGGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGGTG GGGAAGGAGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGG		OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28						chr2	TogoVar
PAK2_chr3_196734857_196837647	196811293	C C	CTTCCCTC others(200): Show CTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTT CCCTTCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	178	0.0056	207	c.773 others(222): Show c.773+641_773+642insTCCCTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCT TCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTT CCCTTCCTTCCCTTCCTTCCCTTCCTT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	ATTGTGTG others(200): Show ATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGA GGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGATTGTGTGAGGGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCCGTGAGAGAAGGGGGTTCCGTGAGAGGAGGGGATTGT GTGAGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	367	0.0027	207	c.4-1 others(220): Show c.4-1447_4-1446insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTTCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACAG AACCCCCCCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACA GAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCT CACAGAACCCCCTCCTCTCACACAA		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(200): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGGCGGGGGGGCAGCTGGG GCGGGGGGCGGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGG GGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGCGGGGGGGGGCGGG GGGGGCGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGCGGGGGG CGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0189 a0001c0003t0007g0189	1	221	0.0045	207	c.-95 others(216): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGGCGG GGGGGCAGCTGGGGCGGGGGGCGGGGGGGGGGCGGGGGGGGCGGGGGGGC GGGGGGCGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGC GGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGC GGGGGGCGGGGGGCGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(200): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	207	c.70 others(218): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(200): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATTACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	207	c.70 others(218): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATTACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PHRF1_chr11_571470_617222	585290	T T	TTGAGGTA others(200): Show TTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0018 a0025 a0018 a0025	a0018c0029 a0025c0038 a0018c0029 a0025c0038	a0018c0029t0001 a0025c0038t0001 a0018c0029t0001 a0025c0038t0001	a0018c0029t0001g0217 a0025c0038t0001g0181 a0018c0029t0001g0217 a0025c0038t0001g0181	2	279	0.0072	207	c.215 others(224): Show c.215-1947_215-1946insATGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTT TCCAGCATGAGGTAGTAGCCCTTTCCAGC		PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATA others(200): Show TATATATAATATATTATATATAATATATATTATATATATTATATATAATA TATATTATATATATTATATATTATATATTATATATTATATATAATATATA TTATATATATTATATATTATATATTATATATTATATATAATATATATTAT ATATATTATATATTATATATTATATATAATATATAATATATAATATATAT TATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	414	0.0024	207	c.53 others(218): Show c.5315_*5316insATATATAATATATTATATATAATATATATTATAT ATATTATATATAATATATATTATATATATTATATATTATATATTATATAT TATATATAATATATATTATATATATTATATATTATATATTATATATTATA TATAATATATATTATATATATTATATATTATATATTATATATAATATATA ATATATAATATATATTATATAAA		PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding					3979		chr6	TogoVar
PKP3_chr11_389209_409908	402148	C C	CGACCCCG others(200): Show CGACCCCGCTCACACCCCCGACCCCCGGCCCCGCTCACCCCCCGACCCGC TCACCCCGACCCCGCTCACACCCCGCCCCGCTCACCCCTGCCCCGCTCAC CCCGGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCC CGACCCCGCGCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCCGCCCCGC TCACCCCG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0121 a0014c0029t0001g0121	1	216	0.0046	207	c.173 others(224): Show c.1738-929_1738-928insACCCCGCTCACACCCCCGACCCCCGGCC CCGCTCACCCCCCGACCCGCTCACCCCGACCCCGCTCACACCCCGCCCCG CTCACCCCTGCCCCGCTCACCCCGGGCCCCGCTCACCCCCGGCCCCGCTC ACCCCGACCCCGCTCACCCCCGACCCCGCGCCCGCTCACCCCCGGCCCCG CTCACCCCCGCCCGCCCCGCTCACCCCGG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLD3_chr19_40343695_40383485	40377359	A A	ATGGGGGG others(200): Show ATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGG CAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGTCAGGGC TGGGATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGCC CAGGCAGAGGGGTCAGGGCCAGGGTGGGGGGGCACAGGCAGAGGGGTCAG GGCTGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	364	0.0028	207	c.118 others(224): Show c.1186-384_1186-383insTACAGGCAGAGGGGTCAGGGCTGGGATG GAGGAGGTACAGGCAGAGGGGTCAGGGCTGGGATGGGGGGGCACAGGCAG AGGGGTCAGGGCTGGGATGGAGGAGGCCCAGGCAGAGGGGTCAGGGCCAG GGTGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGGTGGGGGGGCACAGG CAGAGGGGTCAGGGCTGGGATGGAGGAGG		PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHG4B_chr5_87168_194966	141053	A A	ACCCCCTC others(200): Show ACCCCCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACTCC CCTGCACATCCCACCCCCTCCCCTGCACACCCCACACCTCCCCTGCACAC CCCACCCCTTCCGCTGCACACCAACCCACTCCCCTGCACACCCCCACCCC CTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCCTCCCC TGCACACC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0011 a0011	a0011c0078 a0011c0078	a0011c0078t0059 a0011c0078t0059	a0011c0078t0059g0185 a0011c0078t0059g0185	1	210	0.0048	207	c.147 others(224): Show c.1477+338_1477+339insCCCCTCCCCTGCACACCCCACCCCTTCC GCTGCACACCAACCCACTCCCCTGCACATCCCACCCCCTCCCCTGCACAC CCCACACCTCCCCTGCACACCCCACCCCTTCCGCTGCACACCAACCCACT CCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCACTCCCCTG CACACCCCACCCCCCTCCCCTGCACACCC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLVAP_chr19_17346455_17382342	17349245	T T	TTTCTTTC others(200): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	436	0.0023	207	c.31 others(218): Show c.3116_*3117insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAA		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					2209		chr19	TogoVar

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Search Results (Total: 10000 hits)