Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HPCAL1_chr2_10297904_10432604	10399426	A A	ACCACCGC others(195): Show ACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCA TCATCACCACCATCATCACCACCATCACCACCACCATCACCCACCACCAT CATCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCATCG CCG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	314	0.0032	202	c.-25 others(219): Show c.-25+2511_-25+2512insGCCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACC ACCATCACCACCACCATCATCACCACCATCATCACCACCATCACCACCAC CATCACCCACCACCATCATCACCACCATCACCACCACCACCATCGCCGCC ACCACCACCACCATCGCCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TATGGAAT others(195): Show TATGGAATATATATATGGAATATATATATATGGTATATATATATGGAATA TATATATATGGTATATATATATGGAATATATATATGGAATATATATATAT GGTATATATATATGGAATATATATATATGGAATACAAATATACGGAATAT ATATATGGAATACATATATACGGAATATATATATACGGAATACATATATA CGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	323	0.0031	202	c.-24 others(213): Show c.-2470_-2469insATGGAATATATATATGGAATATATATATATGGTA TATATATATGGAATATATATATATGGTATATATATATGGAATATATATAT GGAATATATATATATGGTATATATATATGGAATATATATATATGGAATAC AAATATACGGAATATATATATGGAATACATATATACGGAATATATATATA CGGAATACATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307526	A A	ATATTATA others(195): Show ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATT TTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18943.hp1 NA19058.hp1 HG02129.hp1 NA18943.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0033	3	141	0.0213	202	c.697 others(221): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATTTTCTA TTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307526	A A	ATATTATA others(195): Show ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTCTATTATATATATTATATATAATATATATT TTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	141	0.0071	202	c.697 others(221): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTCTATTATATATATTATATATAATATATATTTTCTA TTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102352917	T T	TTTATATA others(195): Show TTTATATATAATATTATATATAATATTATATATTTTATATATAATATTAT ATATAATATTATATATTTTATATAATATTATATATAATATTATATATTTT ATATATAATATTATATATAATATTATATATTTTATATATAATATATATTA TATAATATTATATATATTATACATTACATATATATTATATATAATATTAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	348	0.0029	202	c.99 others(211): Show c.996_*997insTTATATATAATATTATATATAATATTATATATTTTA TATATAATATTATATATAATATTATATATTTTATATAATATTATATATAA TATTATATATTTTATATATAATATTATATATAATATTATATATTTTATAT ATAATATATATTATATAATATTATATATATTATACATTACATATATATTA TATATAATATTATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		881		chr2	TogoVar
IQSEC1_chr3_12892043_13078429	12892971	C C	CCCCCCAA others(195): Show CCCCCCAACCCCTGCACCCCACGCACAACCTCCACAGAGACTCTCCACCC TCTCCCACTGTGCACCCCCCCAACCCCTGCACCCCACGCACAACCTCCAC AGAGACTCTCCACCCTCTCCCACTGTGCACCCCCCCAACCCCTGCACCCC ACGCACAACCTCCACAGAGACTCCCCACCCTCTCCCACTGTGCACCCCCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	250	0.0040	202	c.80 others(213): Show c.8011_*8012insTTGGGGGGGTGCACAGTGGGAGAGGGTGGGGAGT CTCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGG GAGAGGGTGGAGAGTCTCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGG GGGGGTGCACAGTGGGAGAGGGTGGAGAGTCTCTGTGGAGGTTGTGCGTG GGGTGCAGGGGTTGGGGG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		4071		chr3	TogoVar
IQSEC1_chr3_12892043_13078429	12892971	C C	CCCCCCAA others(195): Show CCCCCCAACCCCTGCACCCCACGCACAACCTCCACAGGGACTCCCCACCC TCTCCCACTGTGCACCCCCCCAACCCCTGCACCCCACGCACAACCTCCAC AGAGACTCTCCACCCTCTCCCACTGTGCACCCCCCCAACCCCTGCACCCC ACGCACAACCTCCACAGGGACTCCCCACCCTCTCCCACTGTGCACCCCCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0136 a0007c0009t0002g0136	1	250	0.0040	202	c.80 others(213): Show c.8011_*8012insTTGGGGGGGTGCACAGTGGGAGAGGGTGGGGAGT CCCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGGGGGGGTGCACAGTGG GAGAGGGTGGAGAGTCTCTGTGGAGGTTGTGCGTGGGGTGCAGGGGTTGG GGGGGTGCACAGTGGGAGAGGGTGGGGAGTCCCTGTGGAGGTTGTGCGTG GGGTGCAGGGGTTGGGGG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding		4071		chr3	TogoVar
IZUMO3_chr9_24537952_24550897	24546444	C C	CTTTCTTT others(195): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	426	0.0024	202	c.-79 others(211): Show c.-796_-795insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		548		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(195): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02486.hp1 others(6): Show HG01255.hp2 HG02280.hp1 HG02486.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0177 a0001c0001t0001g0207 a0001c0002t0001g0048 a0001c0002t0001g0057 a0001c0002t0001g0144	9	233	0.0386	202	c.130 others(221): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTG TGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGA CCTGTGTGTGCGGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(195): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	233	0.0043	202	c.130 others(221): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTG TGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGA CCTGTGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	TGCACACA others(195): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0141 a0001c0001t0001g0007 a0001c0001t0001g0141	2	233	0.0086	202	c.130 others(221): Show c.1303-2587_1303-2586insGGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGA GCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGC TCAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGG AGCTCAGGGGGGTGACCTGTGTGTGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATATTTA others(195): Show AATATTTATTATAAATATATAAATATTATAAATATATAAATATTTATTAT AAATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATAT AAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTT ATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAA TAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	338	0.0030	202	c.117 others(223): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTT ATAATATTTATATATTTATAATAAATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(195): Show TTAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	164	0.0061	202	c.211 others(223): Show c.2113-34249_2113-34248insTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH8_chr3_19143510_19540642	19431780	A A	ATGTGCAC others(195): Show ATGTGCACAGAGGTGTTTATAACATTCTCTCATGGTTCTTTGTTTTTTCG TGGGGTCAGTGGTAATATCACCCTTATAATTTCTGATTATGTTTATTTGA ATCTTCTCTCTTTTCTTCTTTATTAATCTAGCTAGTGGTCTATTTTATTA ATTTTTTCAAAAAACCAGCTCTGGGATTTGTTGATCTTTTGAAGGGTTTT TCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	134	0.0075	202	c.117 others(221): Show c.1178-6380_1178-6179dupGCACAGAGGTGTTTATAACATTCTCT CATGGTTCTTTGTTTTTTCGTGGGGTCAGTGGTAATATCACCCTTATAAT TTCTGATTATGTTTATTTGAATCTTCTCTCTTTTCTTCTTTATTAATCTA GCTAGTGGTCTATTTTATTAATTTTTTCAAAAAACCAGCTCTGGGATTTG TTGATCTTTTGAAGGGTTTTTCGTGT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNK9_chr8_139612121_139708123	139687601	T T	TATGTGTA others(195): Show TATGTGTATACATATATATTCATATATATGTGTATACATATATATTCATA TATATGTGTATACATATATATTCATATATATGTGTATACATATATATTCA TATATATGTATACACATATATATTCATATATATGTATACATATATACACA TATATTCATATATATGTATACACATATATTCATATATATGTATACATATA TTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	322	0.0031	202	c.283 others(221): Show c.283+15108_283+15109insGAATATATGTATACATATATATGAAT ATATGTGTATACATATATATGAATATATGTGTATATATGTATACATATAT ATGAATATATATGTGTATACATATATATGAATATATATGTATACACATAT ATATGAATATATATGTATACACATATATATGAATATATATGTATACACAT ATATATGAATATATATGTATACACAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(195): Show TATATATATAATATATATATTATATATATGTTACATATATATAATATATA TATTATATATATGTTATATATATATATAATATATATATTATATATATGTT ACATATATATAATATATATATTATATATATGTTATATATATATATAATAT ATATATTATATATATGTTACATATATATAATATATATATTATATATATGT TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA18969.hp2 NA18984.hp1 others(1): Show HG02071.hp1 NA18969.hp2 NA18984.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0015 a0001c0011t0002 a0001c0001t0015 a0001c0011t0002	a0001c0001t0015g0016 a0001c0011t0002g0157 a0001c0001t0015g0016 a0001c0011t0002g0157	4	386	0.0104	202	c.-44 others(213): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATGTAACATATATATAA TATATATATTATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228935	C C	CCACTCAC others(195): Show CCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCAA AAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCT CTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCC CCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACC AAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20805.hp2 HG01192.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0041 a0001c0001t0007 a0001c0001t0041	a0001c0001t0007g0025 a0001c0001t0041g0030 a0001c0001t0007g0025 a0001c0001t0041g0030	2	398	0.0050	202	c.64+ others(219): Show c.64+11503_64+11704dupTTTGGTGGTTGGGGGGTGGAGAGGGATC TCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGG TGGTGTGGGGGTGGAGAGGGATCTTTTGGGTGAGTGGTGATGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	168002137	G G	GAAGACAC others(195): Show GAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAGAAGACACCTGAGGCGT GGCCGCGGGCAGGTGAGAAGACACCTTCAGGCGTAGCCTCAGGCAGGTGA GAAAGACACCTGAGGCGTGGCCTCGGGCAGGTGAGAAGACACCTGAGGCA TGGCCTGGGGCAGGTGAGAAGACACCTTCAGGCGTAGCCTCGGGCAGGTG AGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG02280.hp1 HG02723.hp1 HG03130.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0048 a0005c0007t0020 a0001c0001t0048 a0005c0007t0020	a0001c0001t0048g0026 a0005c0007t0020g0024 a0005c0007t0020g0025 others(1): Show a0001c0001t0048g0026 a0005c0007t0020g0024 a0005c0007t0020g0025 a0005c0007t0020g0027	4	375	0.0107	202	c.-36 others(219): Show c.-369-353_-369-352insGCGGGCAGGTGAGAAGACACCTTCAGGC GTAGCCTCAGGCAGGTGAGAAAGACACCTGAGGCGTGGCCTCGGGCAGGT GAGAAGACACCTGAGGCATGGCCTGGGGCAGGTGAGAAGACACCTTCAGG CGTAGCCTCGGGCAGGTGAGAAAGACACCTGAGGCGTGGCCTCGGGCAGG TGAGAAGACACCTGAGGCGTGGCC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245443875	C C	CTCACTGT others(195): Show CTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACC CTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTT CACCTAGAGTGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCT CCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0103 a0001c0004t0013g0103	1	160	0.0063	202	c.116 others(223): Show c.1166+24142_1166+24143insTAGAGCGGTCATCTCCCTCACTGT TCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCC CTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCAT CTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCACTGTTCACCTAGA GGAGAGGTCATCTCCTTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126473080	T T	TCTACCTA others(195): Show TCTACCTAACCCCCCCAGCCCCTCCCAACCAGCCCCCCCGCCATCCCCCT CGCTACCTAACCCCCCAGCCCCTCCCAACCAGCCCCCCCGCCATCCCCCT CGCTACCTAACCCCCCAGCCCCTCCCAACCAGCCCCCCCACCATCCCCCT CGCTACCTAACCCCCCCAGCCCCTCCCAACCAGCCCCCCCGCCATCCCCC TCG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0015 a0001c0010t0015	a0001c0010t0015g0089 a0001c0010t0015g0089	1	114	0.0088	202	c.591 others(217): Show c.591+228_591+229insCGAGGGGGATGGCGGGGGGGCTGGTTGGGA GGGGCTGGGGGGGTTAGGTAGCGAGGGGGATGGTGGGGGGGCTGGTTGGG AGGGGCTGGGGGGTTAGGTAGCGAGGGGGATGGCGGGGGGGCTGGTTGGG AGGGGCTGGGGGGTTAGGTAGCGAGGGGGATGGCGGGGGGGCTGGTTGGG AGGGGCTGGGGGGGTTAGGTAG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	5/16			chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(195): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG01891.hp2 others(8): Show HG01255.hp1 HG01884.hp1 HG01891.hp2 HG02280.hp1 HG02486.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0006 a0001c0001t0000g0038 a0001c0001t0000g0006 a0001c0001t0000g0038	11	462	0.0238	202	c.106 others(219): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTG TGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACC TGTGTGTGCGGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(195): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0145 a0001c0001t0000g0145	1	462	0.0022	202	c.106 others(219): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTG TGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACC TGTGTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067594	T T	TGCACACA others(195): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCT GCACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCT TCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0120 a0001c0001t0000g0121 a0001c0001t0000g0120 a0001c0001t0000g0121	2	462	0.0043	202	c.106 others(219): Show c.106+2462_106+2463insGGAAGAGCTTGAGTGAACCTGGAGCTCA GGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAG CTCAGGGGGGTGACCTGTGTGTGC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LPA_chr6_160526482_160669275	160654050	A A	ATATAATA others(195): Show ATATAATATATATTATATATTATATTATATATAATATATATTATATATTA TATTATATATAATATATATTATATATTATATTATATATAATATATATTAT ATATTATATTATATATAATATATATTATATATTATATTATATATAATATA TATTATATATTATATTATATATAATATATATTATATATTATATTATATAT AAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	148	0.0068	202	c.50- others(217): Show c.50-3554_50-3553insATTATATATAATATAATATATAATATATAT TATATATAATATAATATATAATATATATTATATATAATATAATATATAAT ATATATTATATATAATATAATATATAATATATATTATATATAATATAATA TATAATATATATTATATATAATATAATATATAATATATATTATATATAAT ATAATATATAATATATATTATA	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LRP1B_chr2_140226423_142136016	140828789	C C	CAAAAAAA others(195): Show CAAAAAAAAAAATAAAAAATACAAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGTGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0017 a0001c0015t0009g0017	1	28	0.0357	202	c.520 others(223): Show c.5209+11201_5209+11202insTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGCAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTGTATTTTTTATTTTTTTTTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	31/90			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(195): Show CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04199.hp2 HG00741.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0014 a0002c0002t0001 a0002c0002t0014	a0002c0002t0001g0031 a0002c0002t0014g0108 a0002c0002t0001g0031 a0002c0002t0014g0108	2	296	0.0068	202	c.368 others(219): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909085	A A	ATTATATA others(195): Show ATTATATATTATATATAATTATATATATTATATATTATATATAATATATA ATATATAATATATAATATATATTTATTAATAATATATATAATATATATAT TTATTTATATATATATTATTATATATATATAAATATATATATTTATTAAT ATATATATAAATATATATATTTATTAATAATATATATAATATATATATAA TAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	316	0.0032	202	c.622 others(217): Show c.622-805_622-804insTTATATATTATATATAATTATATATATTAT ATATTATATATAATATATAATATATAATATATAATATATATTTATTAATA ATATATATAATATATATATTTATTTATATATATATTATTATATATATATA AATATATATATTTATTAATATATATATAAATATATATATTTATTAATAAT ATATATAATATATATATAATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909119	A A	ATTATATA others(195): Show ATTATATATTATATATAATATATAATATATAATATATAATATATATTTAT TAATAATATATATAATATATATATTTATTTATATATATATTATTATATGT ATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAAT AATATATATAATATATATATAATATATAATATATAATATATAATATATAA TTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	316	0.0032	202	c.622 others(217): Show c.622-771_622-770insTTATATATTATATATAATATATAATATATA ATATATAATATATATTTATTAATAATATATATAATATATATATTTATTTA TATATATATTATTATATGTATATAAATATATATATTTATTAATATATATA AATATATATATTTATTAATAATATATATAATATATATATAATATATAATA TATAATATATAATATATAATTT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GGGAACAG others(195): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	350	0.0029	202	c.20 others(213): Show c.2075_*2076insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(195): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCCTTTCTTCCTTTCTTTCCTTTCTT TCTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTT TCTTTCCTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTC TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	436	0.0023	202	c.40 others(213): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGA AAGAAAGGAAAGAAAGAGAAAGAAAGGAAAGAAAGGAAGAAAGGAAAGGA AAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAA AGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(195): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	436	0.0023	202	c.40 others(213): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MACROD2_chr20_13990516_16058197	14862396	T T	TAAATATA others(195): Show TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAAAATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0016 a0002c0002t0001g0017 a0001c0001t0004g0016 a0002c0002t0001g0017	2	24	0.0833	202	c.418 others(223): Show c.418+177438_418+177439insAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATAAAAATATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(195): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATATTAATTATATATATTAATATATATTAATTATATATATTA ATTATATATATTAATATATATTAATTATATATTAATTATATATATTTATA TAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18955.hp2 NA18961.hp1 others(5): Show HG02083.hp1 NA18955.hp2 NA18961.hp1 NA18968.hp2 NA18989.hp2 NA19070.hp2 NA19078.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0031 others(5): Show a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0048	8	236	0.0339	202	c.316 others(221): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATATTAATTATATATATTAA TATATATTAATTATATATATTAATTATATATATTAATATATATTAATTAT ATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(195): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATTAATTATATATATTAATATATATTAATTATATATATTAAT TATATATATTAATATATATTAATTATATATATTAATTATATATATTTATA TAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0037 a0002c0006t0004g0037	1	236	0.0042	202	c.316 others(221): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATTAATTATATATATTAATA TATATTAATTATATATATTAATTATATATATTAATATATATTAATTATAT ATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(195): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TTATATATATTAATTATATATATTAATATATATTAATTATATATATTAAT TATATATATTAATATATATTAATTATATATATTAATTATATATATTTATA TAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	236	0.0042	202	c.316 others(221): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTTATATATATTAATTATATATATTAATA TATATTAATTATATATATTAATTATATATATTAATATATATTAATTATAT ATATTAATTATATATATTTATATAGT	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(195): Show AGGGGGGAGGGGAGGGGAGAGGGGGAGGGGGGGGAGGGGGGGAGAGGGGG GAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGGG GGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGGGGAGGGGGGAGAGGG GGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGGGGGGGAGGGGGGGA GGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	163	0.0061	202	c.525 others(219): Show c.525+8627_525+8628insCCCTCCCCCCCTCCCCCCCTCCCCCCCT CCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCCTCT CCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCCCT CCCCCTCTCCCCTCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATATG others(195): Show CATATATGTATATATAGATATATATACATATATACATATATACATATATG TATATATAGATATATATACATATATACATATATGTATATACCTATATACA TATATAGATATATACATATGTATATATGTATATAGATATACATACATAGA TATATACATATATGTATATATATACATATATGTATATCTATATACATATA TGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00741.hp2 others(28): Show HG00323.hp2 HG00558.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01516.hp1 HG01993.hp1 HG02132.hp1 HG02300.hp2 HG03579.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18980.hp2 NA18994.hp1 NA19001.hp2 NA19030.hp1 NA19054.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp2 NA19080.hp2 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0033 a0006c0006t0003	a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0260 others(28): Show a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0190 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0283 a0001c0001t0008g0275 a0001c0001t0010g0261 a0001c0001t0010g0263 a0001c0001t0011g0331 a0001c0001t0011g0332 a0001c0001t0011g0333 a0001c0001t0011g0334 a0001c0001t0011g0335 a0001c0001t0012g0268 a0001c0001t0013g0026 a0001c0001t0033g0282 a0006c0006t0003g0327	31	350	0.0886	202	c.77+ others(217): Show c.77+9306_77+9307insACATATATGTATATAGATATACATATATGT ATATATATACATATATGTATATATCTATGTATGTATATCTATATACATAT ATACATATGTATATATCTATATATGTATATAGGTATATACATATATGTAT ATATGTATATATATCTATATATACATATATGTATATATGTATATATGTAT ATATATCTATATATACATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(195): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACA CAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02027.hp1 others(19): Show HG00438.hp1 HG00621.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02523.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18984.hp2 NA18988.hp2 NA18997.hp1 NA19004.hp1 NA19007.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19079.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0009t0001 a0001c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0129 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0129 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0326 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0001g0369 a0001c0001t0003g0246 a0001c0001t0008g0335 a0001c0009t0001g0251 a0001c0009t0001g0265 a0001c0009t0001g0346 a0001c0012t0001g0235	22	399	0.0551	202	c.557 others(219): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090505	C C	CCCCCCGC others(195): Show CCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCC CACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCACAC ACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGG GAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACAC ACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0197 a0001c0003t0002g0197	1	399	0.0025	202	c.557 others(219): Show c.557-2662_557-2661insCCCCCGCCCCACACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACA	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(195): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TAGACTATATATATAGTCTATATATATATAGTCTATATATATATATAGTC TATATATATATAGTCTATATATATATATAGTCTATATATATAGTCTATAT ATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATATA GTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02723.hp1 others(3): Show HG02572.hp2 HG02717.hp2 HG02723.hp1 HG03041.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0113 a0001c0002t0040 others(2): Show a0001c0001t0013 a0001c0001t0113 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042	a0001c0001t0013g0014 a0001c0001t0013g0168 a0001c0001t0113g0178 others(3): Show a0001c0001t0013g0014 a0001c0001t0013g0168 a0001c0001t0113g0178 a0001c0002t0040g0177 a0001c0002t0041g0015 a0001c0002t0042g0013	6	186	0.0323	202	c.-56 others(221): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATAGACTATATATATAGACTA TATATATATATAGACTATATATATATAGACTATATATATATATAGACTAT ATATATATAGACTATATATATAGTCTATATATATATAGTCTATATATATA TAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(195): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATAGTCTATATATATATAGTCTA TATATATATAGTCTATATATATATATAGTCTATATATATAGTCTATATAT ATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATATA GTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0038 a0001c0001t0057g0038	1	186	0.0054	202	c.-56 others(221): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATATAGACTATATATATATAGACTATATATATATAGACTAT ATATATAGACTATATATATAGTCTATATATATATATAGTCTATATATATA TAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(195): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATATAGTCTATATATATATAGTC TATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATAT ATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATATA GTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	186	0.0054	202	c.-56 others(221): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATAGACTATATATATATAGACTATATATATATAGACTATAT ATATATAGACTATATATATAGTCTATATATATATATAGTCTATATATATA TAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(195): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACAGCCGGGAGCTATAGAAACACGGCCCGG AGCTGTAGAAACACGGCCCGGAGCTATAGAACGGCCCAGAGTCCAGAAAC ACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	384	0.0026	202	c.984 others(219): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTCTAT AGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCCG GCTGTGTTTCTACAGCTCCGGGCTGTGTTTCTGGACTCTGGGCCGTTTCT ATAGCTCCGGGCCATGTTTCTACAGCTCCCGGCCTGTTTCTGCAGCTCCG GGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237544524	G G	GCACGGTA others(195): Show GCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGCACGGTGGTGAGTGGGGCGACAGTGGTGAGTGGGGGACAGTGGTG AGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	286	0.0035	202	c.153 others(221): Show c.1539+1865_1539+1866insCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTA GTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAG TGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACA GTGGTGAGTGGGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MSLN_chr16_755734_773862	767806	C C	CGCGTGGA others(195): Show CGCGTGGAGGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGGGCGCATGGGG GGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0025 a0025	a0025c0042 a0025c0042	a0025c0042t0001 a0025c0042t0001	a0025c0042t0001g0170 a0025c0042t0001g0170	1	388	0.0026	202	c.159 others(219): Show c.1596+362_1596+363insGCGCATGGGGGGGCGTGGAGGGGGGGTG CGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGA GGAGGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGGGCGCATGGGGGGGGC GTGGAGGGGGGCGCGTGGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(195): Show ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTTATATATATTTTATATATATAA AATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATA TTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	330	0.0030	202	c.-5+ others(217): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAAT ATATATAAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(195): Show TAATATATATTATATATTATAATATATAATATATATAATATATATTATAT ATATAATATATAATATATATAATATATATAATATATATTATATATATAAT ATATAATATATATTATAATATATAATATATATTATATATATAATATATAT TATATATAATATATATTATATATATAATATATATTATATATATTTTAAAT ATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp1 HG01099.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0001 a0001c0003t0001 a0001c0016t0001	a0001c0003t0001g0033 a0001c0016t0001g0006 a0001c0003t0001g0033 a0001c0016t0001g0006	2	334	0.0060	202	c.547 others(219): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATAATATATATTATATATTATATATATAATATATATTATAT ATATTATATATATTATATATTATATATATAATATATATTATATATATTAT ATATTATAATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYL2_chr12_110905845_110925579	110905910	T T	TTATATAA others(195): Show TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTATATATAATATAATATATAATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	368	0.0027	202	c.51 others(213): Show c.5166_*5167insTATATATATATATTATATATTATATTATATATAA TATATATTATATATAATATAATATATATTTTATATAATATATATTATATA TAATATAATATATATTTTATATAATATATATTATATATAATATAATATAT ATTATATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4934		chr12	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(195): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCC TCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	202	c.289 others(219): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(195): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	176	0.0057	202	c.291 others(219): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar

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Search Results (Total: 10000 hits)