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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
DPP6_chr7_154047398_154899285	154060716	G G	GGTGGGGA others(398): Show GGTGGGGAGGCACCCCCTACGAGAGTGGGGACTGAGAGCTATCCCCTCTT CCGCCCCTGGCTGTTAGTACCCCCATCGCAGGGTGGGGGAGGCACCCTCC CGCGAGGCAGGGACTGAGAGCCAGCCTCTGTTCCCCCACTGGCTCTTAGG ACCCCCATCGCAGAGCGGGGAGGGACCCCCCACGAGGCGGGGACTGAGAG CCAGTCCCTCTTCCCCCTCTGGCTCTTAGGAACCCCATCGCAGGAGGGTG TGGCACCCCCCACGAGGGTGGGGACTGAGAGCTATCCCCTCTTCCGCCCC TGGCTGTTAATACCCCCATCGCAGGGTGGGGGAGGCACCCCCCGCGAGGT AGGGACTGAGAGCCTGCCCCTGTTCCCCCACTGGCTCTTAGGACCCCCAT CGCAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	405	c.243 others(422): Show c.243+7654_243+7655insTGGGGAGGCACCCCCTACGAGAGTGGGG ACTGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGTACCCCCATCGCA GGGTGGGGGAGGCACCCTCCCGCGAGGCAGGGACTGAGAGCCAGCCTCTG TTCCCCCACTGGCTCTTAGGACCCCCATCGCAGAGCGGGGAGGGACCCCC CACGAGGCGGGGACTGAGAGCCAGTCCCTCTTCCCCCTCTGGCTCTTAGG AACCCCATCGCAGGAGGGTGTGGCACCCCCCACGAGGGTGGGGACTGAGA GCTATCCCCTCTTCCGCCCCTGGCTGTTAATACCCCCATCGCAGGGTGGG GGAGGCACCCCCCGCGAGGTAGGGACTGAGAGCCTGCCCCTGTTCCCCCA CTGGCTCTTAGGACCCCCATCGCAGAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATTAAA others(398): Show ATATTAAATTATATATAATATATATTATATATATAATTTATATATATAAA ATATATTATATATTATATATTATATAAATATATATATTTTATATATATAA AATATATATTTTATAATATATAATATAGAAATATATATTATATAATATAT AATTATATATAATTATATATTATATAATATATATTTCTATATTATATATT TATAATGTATAATATATAAATATATTATAAATATATATTATATACTATAT AATGCATTATAAATATATTATATTTATATATTATAAATATATTACATATT TATATATTATATATATAATATATATATTATATATTATAAATATATTTTAT AAAATATAATATATATATTATTATTATATTTTATAAAATATAATAATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0150 a0001c0001t0031g0150	1	220	0.0046	405	c.551 others(424): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATATTATATATATAATATATAAATATGTAATATATTTATAA TATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATAT TTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATAATATATTTTATATATATAAATTATAT ATATAATATATATTATATATAATTTAATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(398): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18957.hp1 HG02896.hp2 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0014 a0001c0003t0002 a0001c0003t0014	a0001c0003t0002g0067 a0001c0003t0014g0007 a0001c0003t0002g0067 a0001c0003t0014g0007	2	208	0.0096	405	c.282 others(424): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(398): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATA CAAAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0025 a0025	a0025c0070 a0025c0070	a0025c0070t0001 a0025c0070t0001	a0025c0070t0001g0197 a0025c0070t0001g0197	1	208	0.0048	405	c.282 others(424): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP2_chr2_241351285_241499841	241457402	G G	GGAGAGGC others(398): Show GGAGAGGCTCTTGGGCGGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAG GGAGGGTGCACTAGGGACTGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGG AGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAGGGACC GCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGGCCCAGTGTAGAAAGAT CTGGGTGCTAAGGGAGGGTGCACTAGGGACTGCTTTGGGTTCCGGAGAGG CTCTTGGGCGGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGT GCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGGCCCA GTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAGGGACTGCTTTGG GTTCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0375 a0001c0001t0002g0373 a0001c0001t0002g0375	2	378	0.0053	405	c.158 others(422): Show c.1587+495_1587+496insGGGAGGCCCAGTGTAGAAAGATCTGGGT GCTAAGGGAGGGTGCACTAGGGACTGCTTTGGGTTCCGGAGAGGCTCTTG GGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTA GGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGGCCCAGTGTAG AAAGATCTGGGTGCTAAGGGAGGGTGCACTAGGGACTGCTTTGGGTTCCG GAGAGGCTCTTGGGCGGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGG GAGGGTGCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGA GGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAGGGACTG CTTTGGGTTCCAGAGAGGCTCTTGGGC	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241285	C C	CATTACAC others(398): Show CATTACACACACGCCACACCCCCTTCCCGGGACCCTCCCTATACCAATTA CACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACAC ACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACA CCCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTT CCAGGGGCCGTCCCTATACCCATTACACACACAACACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCC TCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGACCCTCCCT ATACCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(6): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 others(2): Show a0001c0001 a0001c0006 a0001c0016 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003	a0001c0001t0001g0072 a0001c0006t0001g0073 a0001c0006t0001g0078 others(6): Show a0001c0001t0001g0072 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	9	183	0.0492	405	c.107 others(424): Show c.1077+6624_1077+6625insTGGTATAGGGAGGGTCCCGGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGT GTGTGTAATGGGTATAGGGACGGCCCCTGGAAGGGTGTGTGTTGTGTGTG TAATTGGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGA GGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTC CCGGGAAGGGGGTGTGGCGTGTGTGTAAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241407	C C	CCCTCCCT others(398): Show CCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACA CACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACAC GCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCAC ACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC CAGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp2 HG01978.hp2 others(1): Show HG01167.hp2 HG01433.hp2 HG01978.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0043 a0001c0001t0001g0096 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0015t0001g0024	4	183	0.0219	405	c.107 others(424): Show c.1077+6502_1077+6503insTCCCTGGGAAGGGGGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGG CCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGT GTGTTGTGTGTGTAATGGGGATAGGGAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241407	C C	CCCTCCCT others(398): Show CCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACA CACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACAC GCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCAC ACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACACCCC CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC CAGGGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	183	0.0055	405	c.107 others(424): Show c.1077+6502_1077+6503insTCCCTGGGAAGGGGGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGG CCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGT GTGTTGTGTGTGTAATGGGGATAGGGAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241417	A A	ACCAATTA others(398): Show ACCAATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACATGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACA CACACAACACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACAC GCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCAC ACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC TGGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTC CCTATC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	183	0.0055	405	c.107 others(424): Show c.1077+6492_1077+6493insGATAGGGAGGTCCCTGGGAAGGGGGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGC GTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGT ATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGG CCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGTGTGTGTTGTGTGTGTAATTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241523	C C	CCACACAC others(398): Show CCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACA CCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCT GGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCC CTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACAC ACACAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01109.hp2 others(1): Show HG00140.hp2 HG01106.hp2 HG01109.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0126	4	183	0.0219	405	c.107 others(424): Show c.1077+6386_1077+6387insTTGTGTGTGTAATGGGGATAGGGAGG GCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGG TATAGGGACGGCCAAGGGAAGGGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241844	C C	CCCCTTCC others(398): Show CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGAGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCAG GGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC CTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCCC TATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATAC CCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCATTACACA CACAACACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAA CACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0050	1	183	0.0055	405	c.107 others(424): Show c.1077+6065_1077+6066insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAG GGCTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGG GTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG TTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTG TGTGTAATGGGTATAGGGAGGGCTCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242384	C C	CCCCTTCC others(398): Show CCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCAG GGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC CTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCC TATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACA CACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGC CACACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	183	0.0055	405	c.107 others(424): Show c.1077+5525_1077+5526insTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAA GGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG TTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77253028	C C	CCACCACC others(398): Show CCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0324 a0001c0004t0052g0324	1	366	0.0027	405	c.666 others(422): Show c.666+1819_666+1820insCCACCACCACCACCACCATCACCATCAC CACCACCACCACCACCATCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPBP1_chr5_57169059_57269673	57249822	G G	GTCTTCCC others(398): Show GTCTTCCCCCTCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCCTCC CCTCCTCCCCTCCTCTCCTTCCCCTCCCCTCCTTCCCCTCCCCTCCTTCC CCTTCCCTCCTTTCCCCTCCCCTCCTTCCACTCCCTTCCCCCACCTCCTT CCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCTCCCCT TCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCC CCCTCCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCTTCCCCCTCC TCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCC CTCCCCTCCTTCCCCTTTCCATTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0191 a0001c0001t0005g0191	1	290	0.0035	405	c.972 others(420): Show c.972+248_972+249insTTCCCCCTCCCCTTCCCGTCCTTCCCCCTC CCCTCCTTCCCCCCTCCCCTCCTCCCCTCCTCTCCTTCCCCTCCCCTCCT TCCCCTCCCCTCCTTCCCCTTCCCTCCTTTCCCCTCCCCTCCTTCCACTC CCTTCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCC CTCCTTCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTC CCCATCCTCTTCCTTCCCCCTCCCCCCTTCCCCACCTTCCCCCTCCCCCT TCCCCTCTTCCCCCTCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCC CTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCATTCCCCTCCTTC CCCTTTCCCCCTTCCCCCTCCCCTC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(398): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTATATATATAATATAATTATATATATT TATATTATATATATTATATATAATATAATTATATATATTTATATTATATA TATATTATATTATATATAATTATATATAATTATATATATATTATATTATA TATAATTATATATAATTATATTATATATATTATATGTAATATAATTATAT ATATTTATATTATATATTATATATAATATAATTATATATATAATTATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0053 a0001c0001t0026g0053	1	404	0.0025	405	c.384 others(422): Show c.384-4702_384-4701insATATATATTATAATTATATATATAATTA TATTATATATAATATATAATATAAATATATATAATTATATTACATATAAT ATATATAATATAATTATATATAATTATATATAATATAATATATATATAAT TATATATAATTATATATAATATAATATATATATAATATAAATATATATAA TTATATTATATATAATATATATAATATAAATATATATAATTATATTATAT ATATAATATATATAATTATATTATATATATAATATATATAATTATATTAT ATATATAATATATATAATTATATTATATATATAATATATATAATTATATT ATATATATAATATATATAATTATATTATATATATAATATATATAATTATA TTATATATATAATATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(398): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	168	0.0060	405	c.132 others(424): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAAATAT TATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GZMM_chr19_539053_554922	544963	C C	CCTCCTTC others(398): Show CCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCAC CCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTC CCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCATCCCTCCA CCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCATCA TGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCC ATCATCCATCCCTCCTTCCATCCCTCCTTCCCTCCACCCGTCATCCCTCC CTCCCTCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCC TTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTC CTTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	398	0.0025	405	c.55+ others(418): Show c.55+837_55+838insCTCCTTCCCTCCACCCGTCATCCCTCCCTCCC TCCTTCCATGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCC CCCCTCCTTCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCC ATCCCTCCATCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4			chr19	TogoVar
HIVEP3_chr1_41501365_41923922	41544964	C C	CATCACCA others(398): Show CATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCACCA CCACCACCACCTCTACCACCTCTACCACCACTACCACCACTACCACCTCT ACCACCTCTACCACCACCATCATCACCACCACGACCACCACTACCACCTC TACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCTCTA CCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACCATCATC ACCACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCAC CACCATCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCT CTACCACCACCATCACCACCACCACCACCACCACCTCTACCACCACCATC ACTACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0020 a0007c0008t0007g0020	1	134	0.0075	405	c.520 others(426): Show c.5208-20055_5208-20054insAGTAGTGATGGTGGTGGTAGAGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTGATGATGGTGGTGGTAGA GGTGGTAGAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGAGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTC GTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGT AGTGGTGGTAGAGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGATGGTGGTGGTGGTGGTGAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23280690	T T	TTTATTTT others(398): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTA TATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATA TTTTATTTTTTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTAATTTATT TATTTTAATTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0213 a0005c0007t0002g0213	1	394	0.0025	405	c.41- others(420): Show c.41-3504_41-3503insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAAAATTAAAATAAATAAATTAAAATAAAATAAAATA AAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAAAATAAAATAAAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAAATAAAATATAAAATAAAATATAAAATAAAATATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HSD17B14_chr19_48808018_48841491	48835044	G G	GGCCTGGA others(398): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGAAGGAG GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0375 a0002c0003t0001g0375	1	394	0.0025	405	c.128 others(420): Show c.128-687_128-686insTCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAG GCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCC AGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC TTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGA CCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTC CTCCCTCAGACCCAGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322881	T T	TGGAATAT others(398): Show TGGAATATATATATAATATATATATGGAATATATATATACGGAATATATA TATAATATATATATGGAATATATATACGGAATATATATATACGGAATATA TATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATATACGG AATATATATATACGGAATGTATATATACGGAATATATATATACGGAATAT ATATATACGGAATATATATACGGAATATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18906.hp2 HG02145.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0042 a0001c0001t0041 a0001c0001t0042	a0001c0001t0041g0126 a0001c0001t0042g0127 a0001c0001t0041g0126 a0001c0001t0042g0127	2	323	0.0062	405	c.-21 others(416): Show c.-2175_-2174insGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATATGGAATATATATACGGAATATA TATATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAA TGTATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATACGGAATATATATATACGGAATGTATATATACGGAATAT ATATATACGGAATATATATATACGGAATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATACGGAATATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2088		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(398): Show TATATATATGGAATATATATACGGAATATATATATACGGAATATATATAC GGAATGTATATATACGGAATATATATACGGAATGTATATACGGAATATAT ATACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGA ATATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATA TATGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATATATGGAATATATATACGGAATGTATATATATGGAATATATATAC GGAATGTATATATATGGAATATATATACGGAATGTATATATATGCAATAT ATATATATGGAATATATATATGCAATATATATATATGGAATATATATATA TATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0105 a0001c0001t0010g0105	1	323	0.0031	405	c.-21 others(416): Show c.-2144_-2143insATATATATGGAATATATATACGGAATATATATAT ACGGAATATATATACGGAATGTATATATACGGAATATATATACGGAATGT ATATACGGAATATATATACGGAATGTATATATATGGAATATATATACGGA ATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATATA TACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGAA TATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATAT ATGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGT ATATATATGCAATATATATATATGGAATATATATATGCAATATATATATA TGGAATATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(398): Show TATATATATGGAATATATATACGGAATGTATATATACGGAATATATATAC GGAATGTATATACGGAATATATATACGGAATGTATATATATGGAATATAT ATACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGA ATATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATA TATGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATATATGGAATATATATACGGAATGTATATATATGGAATATATATAC GGAATGTATATATATGCAATATATATACGGAATGTATATATATGCAATAT ATATATATGGAATATATATATGCAATATATATATATGGAATATATATATA TATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0103	1	323	0.0031	405	c.-21 others(416): Show c.-2144_-2143insATATATATGGAATATATATACGGAATGTATATAT ACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTAT ATATATGGAATATATATACGGAATGTATATATATGGAATATATATACGGA ATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATATA TACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGAA TATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATAT ATGGAATATATATACGGAATGTATATATATGCAATATATATACGGAATGT ATATATATGCAATATATATATATGGAATATATATATGCAATATATATATA TGGAATATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATG others(398): Show TATATATGGAATATATATATACGGAATATATATATAATATATATACGGAA TATATATATACGGAATGTATATATACGGAATATATATACGGAATGTATAT ATACGGAATATATATACGGAATGTATATATACGGAATATATATACGGAAT GTATATATACGGAATATATATACGGAATGTATATATACGGAATATATATA CGGAATGTATATATACGGAATACATATATACGGAATACATATATACGGAA TACATATATACGGAATACATATATATGGAATACATATATACGGAATACAT ATATGGAATACATATATGGAATATATATATATGGAATACATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATATGGAATATATATA TATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0100 a0001c0001t0015g0100	1	323	0.0031	405	c.-21 others(416): Show c.-2144_-2143insATATATGGAATATATATATACGGAATATATATAT AATATATATACGGAATATATATATACGGAATGTATATATACGGAATATAT ATACGGAATGTATATATACGGAATATATATACGGAATGTATATATACGGA ATATATATACGGAATGTATATATACGGAATATATATACGGAATGTATATA TACGGAATATATATACGGAATGTATATATACGGAATACATATATACGGAA TACATATATACGGAATACATATATACGGAATACATATATATGGAATACAT ATATACGGAATACATATATGGAATACATATATGGAATATATATATATGGA ATACATATATGGAATATATATATATGGAATATATATATGGAATATATATA TATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(398): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGG GAGGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTG AGCTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTC CGTCTCAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGT GAGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGG CAACGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0135 a0001c0003t0023g0135	1	142	0.0070	405	c.93- others(422): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCTG GCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTAA GTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGT GTGAGCCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(398): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AAAAAATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGA GCTGAGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCC GTCTCAAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGT GAGGGAGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGG CAACGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02451.hp2 HG02965.hp2 others(4): Show HG00323.hp1 HG02451.hp2 HG02965.hp2 HG03453.hp2 HG03516.hp2 HG03834.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0021 others(3): Show a0001c0003 a0001c0005 a0001c0021 a0001c0035 a0002c0009 a0002c0010	a0001c0003t0001 a0001c0005t0016 a0001c0021t0006 others(3): Show a0001c0003t0001 a0001c0005t0016 a0001c0021t0006 a0001c0035t0027 a0002c0009t0001 a0002c0010t0016	a0001c0003t0001g0061 a0001c0005t0016g0025 a0001c0021t0006g0033 others(4): Show a0001c0003t0001g0061 a0001c0005t0016g0025 a0001c0021t0006g0033 a0001c0035t0027g0026 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0010t0016g0028	7	142	0.0493	405	c.93- others(422): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCT GGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTA AGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG TGCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTTGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGT GTGAGCCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAA others(398): Show ATATATAAAATATATATAATATATATTTAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATAAAATAGATATATATAAAATATA TAAAATAGATATTATATATAAAATATATATTATATATATAAAATAGATAT TATATATAAAATAGATATTATATATTATATAAAATATATATTATATATTA TATAATATATAATATATATTATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATTA TATATAAAATATATATTATATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATATTATATATAAAATATATAATATATATAAAAT ATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01071.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0168 a0001c0002t0011g0169 a0001c0002t0011g0168 a0001c0002t0011g0169	2	260	0.0077	405	c.963 others(424): Show c.963+14474_963+14475insAAATATATATAATATATATTTAAAAT ATATATAATATATATATAAAATAGATATTATATATAAAATATATAAAATA GATATATATAAAATATATAAAATAGATATTATATATAAAATATATATTAT ATATATAAAATAGATATTATATATAAAATAGATATTATATATTATATAAA ATATATATTATATATTATATAATATATAATATATATTATATATTATATAT TATATATTAAATATATATTATATATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATATTATATATAAAATATATA TTATATATAAAATATATAATATATATAAAATATATATTATATATAAAATA TATAATATATATAAAATATATATTATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442731	C C	CCACCATC others(398): Show CCACCATCACCATCACCACCATCACCATCATCACCATCACCATTACCACC ACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCATC ACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAC CACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCA CCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACC ACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCAC CATTAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0074 a0002c0001t0008g0074	1	330	0.0030	405	c.691 others(420): Show c.691-201_691-200insATAATGGTGATGGTGGTGGTGATGGTGATG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGG TAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTG ATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(398): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATC ACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT CACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCA CCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATC ACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCAT CACCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02056.hp2 others(13): Show HG00438.hp2 HG00597.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02698.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18952.hp1 NA18980.hp1 NA18995.hp1 NA19000.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0022 a0002c0001 others(2): Show a0001c0002 a0001c0022 a0002c0001 a0002c0029 a0003c0010	a0001c0002t0003 a0001c0002t0010 a0001c0022t0010 others(4): Show a0001c0002t0003 a0001c0002t0010 a0001c0022t0010 a0002c0001t0001 a0002c0001t0067 a0002c0029t0001 a0003c0010t0001	a0001c0002t0003g0304 a0001c0002t0010g0118 a0001c0022t0010g0015 others(13): Show a0001c0002t0003g0304 a0001c0002t0010g0118 a0001c0022t0010g0015 a0002c0001t0001g0013 a0002c0001t0001g0019 a0002c0001t0001g0027 a0002c0001t0001g0059 a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0248 a0002c0001t0067g0115 a0002c0029t0001g0225 a0003c0010t0001g0117 a0003c0010t0001g0119 a0003c0010t0001g0120 a0003c0010t0001g0255	16	330	0.0485	405	c.691 others(420): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGT GATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(398): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02896.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG02896.hp2 HG02897.hp1	a0004 a0011 a0004 a0011	a0004c0057 a0011c0034 a0004c0057 a0011c0034	a0004c0057t0001 a0011c0034t0001 a0004c0057t0001 a0011c0034t0001	a0004c0057t0001g0360 a0004c0057t0001g0381 a0011c0034t0001g0378 others(1): Show a0004c0057t0001g0360 a0004c0057t0001g0381 a0011c0034t0001g0378 a0011c0034t0001g0379	4	414	0.0097	405	c.480 others(420): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATA ATATTATCTATATTATAGATATAGATAATATCTATATCTATATTATAGAT ATTATCTATAATATAGATAATATCTATATTATAGATATTATCTATAATAT AGATAATATCTATATTATAGATATTATCTATAATATAGATATAGATAATA TCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(398): Show TTATCTATGTTATAGATATAGATATTATTATCTATATCTATAATATAGAT AATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATAT AGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATC TATAATATAGATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCT ATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATTATCTA TATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02258.hp1 HG02451.hp1	a0003 a0003	a0003c0023 a0003c0070 a0003c0023 a0003c0070	a0003c0023t0004 a0003c0070t0004 a0003c0023t0004 a0003c0070t0004	a0003c0023t0004g0409 a0003c0070t0004g0410 a0003c0023t0004g0409 a0003c0070t0004g0410	2	414	0.0048	405	c.480 others(420): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATCTATATTATAGATATAGATAATATTATCTATATT ATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTA TATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTA TCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAAT AATATCTATATCTATAACATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(398): Show TTATCTATGTTATAGATATAGATATTATTATCTATATCTATAATATAGAT AATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATAT AGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATCTATAATATAGATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCT ATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATTATCTA TATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0004 a0004c0022t0004	a0004c0022t0004g0411 a0004c0022t0004g0411	1	414	0.0024	405	c.480 others(420): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATTATCTATATTATAGATATAGATAATATCTATATT ATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTA TATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTA TCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAAT AATATCTATATCTATAACATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(398): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATA GATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGATAGATG GGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGG TGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTG GGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGA TGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0052 a0052	a0052c0118 a0052c0118	a0052c0118t0001 a0052c0118t0001	a0052c0118t0001g0074 a0052c0118t0001g0074	1	186	0.0054	405	c.450 others(422): Show c.450+1910_450+1911insCCCCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCA CCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCACCCATC TATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCA CCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATC CCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCACCCA CCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACC CACCCACCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTA CCCACCCACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(398): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCT CCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTA CAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAA GTGCTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp2 HG03471.hp2 others(1): Show HG01106.hp1 HG02615.hp2 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0280 a0001c0001t0001g0307 a0001c0001t0004g0326 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0307 a0001c0001t0004g0326 a0001c0001t0015g0008	4	358	0.0112	405	c.116 others(420): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCA CTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCC GAGTAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCT CCTGACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(398): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCT CCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTA CAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAA GTGCTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0024 a0001c0001t0013g0024	1	358	0.0028	405	c.116 others(420): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCA CTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCC GAGTAGGTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCT CCTGACCTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LSS_chr21_46183446_46233774	46201347	C C	CGTGGGAG others(398): Show CGTGGGAGGACAGGTCATGAAGCCCTCAGGGTAGAGCCTGGATCACGTGG GAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGA CAGGTCATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGT CATGAAGCCCTGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGA AGCCCTGAGGGTAGAGCCTGGATCATGTGGGAGGACAGGTCATGAAGCCC TGAGGGTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGG GTAGAGCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGA GCCTGGATCACGTGGGAGGACAGGTCATGAAGCCCTGAGGGTAGAGCCTG GATCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0052 a0004c0007t0005g0052	1	358	0.0028	405	c.167 others(424): Show c.1670+4488_1670+4489insATGATCCAGGCTCTACCCTCAGGGCT TCATGACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATG ACCTGTCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTG TCCTCCCACGTGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTC CCACATGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACG TGATCCAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATC CAGGCTCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGC TCTACCCTCAGGGCTTCATGACCTGTCCTCCCACGTGATCCAGGCTCTAC CCTGAGGGCTTCATGACCTGTCCTCCCAC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	17/21			chr21	TogoVar
LUC7L_chr16_183990_234449	186476	G G	GGAGGAAC others(398): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGC GACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	350	0.0029	405	c.27 others(416): Show c.2721_*2722insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCTCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2513		chr16	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(398): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACC CCAGCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	388	0.0026	405	c.456 others(422): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTC ACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCAC CCCAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(398): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0066 a0002c0002t0007g0066	1	104	0.0096	405	c.313 others(426): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCC TCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCC TTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTTCCCTGTCCCCTC CCCTCTCTCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(398): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGAAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	104	0.0096	405	c.313 others(426): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCC TCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCC TTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTTCCCTGTCCCCTC CCCTCTCTCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
METTL25B_chr1_156723469_156741960	156735544	A A	AAAAAAAA others(398): Show AAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTA CTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCT ATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTT AAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGA TCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGT GAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGC CATCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	390	0.0026	405	c.112 others(422): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735546	A A	AAAAAAAA others(398): Show AAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTA CTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCT ATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTT AAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGA TCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGT GAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGC CATCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	390	0.0026	405	c.112 others(422): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(398): Show GCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCC CATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp1 HG02630.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0006 a0001c0001t0006 a0002c0002t0006	a0001c0001t0006g0271 a0002c0002t0006g0201 a0001c0001t0006g0271 a0002c0002t0006g0201	2	278	0.0072	405	c.115 others(422): Show c.1157+157_1157+158insCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTC CCCATTCCCCTTCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCCT	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17876935	T T	TAGGGAGG others(398): Show TAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	274	0.0037	405	c.224 others(424): Show c.2242-4913_2242-4912insCACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCT CCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTTCC CTAACCTCCATAACCTCCCTAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTT others(398): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	274	0.0037	405	c.224 others(424): Show c.2242-5221_2242-5220insATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877252	G G	GGGAGGTT others(398): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGA GGTTAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0054 a0013c0025t0001g0054	1	274	0.0037	405	c.224 others(424): Show c.2242-5230_2242-5229insATAACCTCCCTAACCTCCATAACCTC CATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(398): Show GGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GATTAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0025 a0025	a0025c0051 a0025c0051	a0025c0051t0001 a0025c0051t0001	a0025c0051t0001g0089 a0025c0051t0001g0089	1	274	0.0037	405	c.224 others(424): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAT CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(398): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGG ACCTGGGGGTGGAGGGAGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGGGGG TGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01167.hp1 others(8): Show HG00639.hp2 HG01106.hp1 HG01167.hp1 HG01257.hp1 HG01978.hp2 HG02486.hp2 HG02735.hp2 HG02738.hp2 HG03669.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0264 a0001c0001t0004g0003 a0001c0001t0004g0261 others(7): Show a0001c0001t0003g0264 a0001c0001t0004g0003 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0279 a0001c0001t0004g0281	11	382	0.0288	405	c.-10 others(416): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAA GTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCGACTT CCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCC CTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(398): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGG ACCTGGGGGTGGAGGGAGTGGGAAGTCGGGGTGTTGGGGGGGGGAGTGAG GGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGG GGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGGGG GTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	382	0.0026	405	c.-10 others(416): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCCAACACCCCGACTT CCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCC CTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MRPL24_chr1_156732303_156746088	156735544	A A	AAAAAAAA others(398): Show AAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTA CTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCT ATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTT AAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGA TCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGT GAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGC CATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	364	0.0028	405	c.18 others(416): Show c.1853_*1854insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1758		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)