Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(545): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	552	c.-27 others(563): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(545): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	370	0.0027	552	c.-27 others(563): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
LUC7L_chr16_183990_234449	186544	G G	GGAGGAAC others(545): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	350	0.0029	552	c.26 others(563): Show c.2653_*2654insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2445		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(545): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATATATATTTTGTAAATATATATTGTAAATATATATAAATATATATTT TGTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATATATA TAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAA TATATAAATGTATACATTTTGTAAATATATAAAAATATATACATTTTGTA AATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTA AATATATAAATATATATATTTTGTAAATATATATAAATATATACATATTT TGTAAATATATAAATATATACATATTTTGTAAATCTATATAAATATATAC ATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02132.hp1 HG04228.hp2 others(6): Show HG00544.hp2 HG02132.hp1 HG04228.hp2 NA18939.hp1 NA18948.hp2 NA18953.hp2 NA19010.hp1 NA19060.hp2 NA19083.hp1	a0006 a0021 a0006 a0021	a0006c0004 a0021c0029 a0006c0004 a0021c0029	a0006c0004t0001 a0006c0004t0002 a0021c0029t0001 a0006c0004t0001 a0006c0004t0002 a0021c0029t0001	a0006c0004t0001g0188 a0006c0004t0001g0189 a0006c0004t0001g0191 others(6): Show a0006c0004t0001g0188 a0006c0004t0001g0189 a0006c0004t0001g0191 a0006c0004t0001g0192 a0006c0004t0001g0193 a0006c0004t0001g0201 a0006c0004t0002g0190 a0021c0029t0001g0204 a0021c0029t0001g0319	9	330	0.0273	552	c.197 others(571): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATATA TTTACAAAATATATATATTTATATATTTACAAAATATATATATTTTTATA TATTTACAACATATATTTTTATATATTTACAAAATGTATATATTTTTATA TATTTACAAAATGTATACATTTATATATTTACAAAATGTATATATTTACA AAATATATATACATATTTACAAAATATATATATTTACAAAATATATATAC ATATTTACAAAATATATATATTTACTATATATATTTACAAAATATATATA TAATTTACAATATATATATAATTCACAAAATATATATTTATATATATTTA CAATATATATTTACAAAATATATATATATTTACAAAACATATATATATTT ATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATAT ATTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACAT ATATATATTTATATATATTTACAAAA		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(545): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAAC CCACAGCCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC ACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0025 a0025	a0025c0125 a0025c0125	a0025c0125t0001 a0025c0125t0001	a0025c0125t0001g0065 a0025c0125t0001g0065	1	292	0.0034	552	c.377 others(569): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(545): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATG GAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGAT GGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGG TGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19060.hp1 HG01069.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0107 a0001c0002t0007g0214 a0001c0002t0007g0107 a0001c0002t0007g0214	2	250	0.0080	552	c.748 others(569): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTG GTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGG AGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGT GGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGG TGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTG GTGATGGAGGTGGTGATGGGGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(545): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATT TAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCT TCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATA TATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTAT ATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0283 a0001c0001t0006g0305 a0001c0001t0006g0306	3	312	0.0096	552	c.293 others(571): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCT GGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGTTTTG GTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATA TATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATAT ATATATTTAGGTCCTCTGGTTTTGGT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(545): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATT TAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCT TCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATA TATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTAT ATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0307 a0001c0001t0006g0307	1	312	0.0032	552	c.293 others(571): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCT GGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGTTTTG GTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATA TATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATAT ATATATTTAGGTCCTCTGGTTTTGGT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(545): Show ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	364	0.0028	552	c.394 others(567): Show c.394-662_394-661insTATATATGTTCATATATATATTCATATATA TGTTCATATATATTCATATATATGTTCATATATATTCATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17						chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(545): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTA CCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCC CCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19002.hp1 NA19088.hp1 NA18944.hp2 NA19002.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0273	3	378	0.0079	552	c.147 others(571): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAG GGCCTAGGGACACAAGGTAGGTAAGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668325	C C	CGCCCTCC others(545): Show CGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCC ACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC CCTTACCCACTACTGGGTCCCTCTGCCCTCCCTTACCTACCTTGTGTCCC TAG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	378	0.0027	552	c.147 others(571): Show c.1479+3188_1479+3189insCTAGGGACACAAGGTAGGTAAGGGAG GGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAGGGTCG GTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGA GGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTTGTGGGTAAGGGAGGGC		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(545): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGT ATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTG CTGTGTATATGTGAGTGCTGGTGTGTGCATTGAGTGGCGTGTGTGGTGTG TATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGA GTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0180	1	398	0.0025	552	c.507 others(567): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGG TGTGTTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGT ATTTGCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATTGA GTGGCGTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAG TGCTGATGTGTGCATGAGTGGT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NRDC_chr1_51784210_51883727	51852549	A A	ATAGTTTT others(545): Show ATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAT AGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATAT ATAGTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTATATAG TTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATA TAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAG TTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTATAT AGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATA GTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAGTTTAAACTATA TAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0079 a0001c0008t0001g0097 a0001c0002t0001g0079 a0001c0008t0001g0097	2	244	0.0082	552	c.342 others(571): Show c.342-12036_342-12035insCTATATAGTTTAAACTATATAAAAAA TATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAGT TTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTATA TAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACGTAGTT TAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACAT AAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAA AACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAA ACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAAC TATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAA ACTATAAACTATATAGTTTAAAACTA		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(545): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAG GGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAG AGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA19082.hp1 NA19091.hp1 NA18964.hp1 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0043 a0001c0005t0091 a0001c0005t0043 a0001c0005t0091	a0001c0005t0043g0305 a0001c0005t0043g0308 a0001c0005t0091g0311 a0001c0005t0043g0305 a0001c0005t0043g0308 a0001c0005t0091g0311	3	386	0.0078	552	c.92 others(563): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTC CCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCC TCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCT CTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTC TCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCC CCTCTCCCCCTCCCTCCC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(545): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAG GGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAG AGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0349 a0001c0001t0039g0349	1	386	0.0026	552	c.92 others(563): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTC CCTCTCCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTC CCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCC TCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCT CCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCT CTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTC TCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCC CCTCTCCCCCTCCCTCCC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(545): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGGAGAGGGAGGGGAGGGGGGAGAGGGGGGAGAGAGAGGGAGG GGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAG AGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0095 a0001c0004t0002g0095	1	386	0.0026	552	c.92 others(563): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTC TCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTC CCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCCTCC CCTCCCTCTCCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCT CCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCT CTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCC TCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCC CCCCTCTCCCCCTCCCTC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3703		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(545): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAG GGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAG GGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAG GGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGG GGTGGGAGGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAG AGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0299 a0001c0004t0002g0299	1	386	0.0026	552	c.92 others(563): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTC TCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTC CCTCCCTCCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCC CCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTC CCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCTC TCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCT CTCTGTCCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCC CCCCTCTCCCCCTCCCTC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3703		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(545): Show GGAGGGAGGGGGAGAGGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAG GGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAG GGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAG GGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAG GGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGG GGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGA GAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0094 a0001c0004t0002g0094	1	386	0.0026	552	c.92 others(563): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCCATCCCTCTCCCTCCCCC ATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCT CTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCT CCCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCT CCCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCC CCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTC CCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCTC TCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCT CTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCC CCCCTCTCCCCCTCCCTC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3703		chr12	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(545): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACACATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	400	0.0025	552	c.70 others(563): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACACATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(545): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATGTATTACATATATGTAATACATATATA ACATGTATGTATTACATATATGTAATACATATATAACATGTATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACACATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	552	c.70 others(563): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATGTATTACATATA TGTAATACATATATAACATGTATGTATTACATATATGTAATACATATATA ACATGTATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACACATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(545): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACACATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	552	c.70 others(563): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACACATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(545): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATGTATTACATATATGTAATACATATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	552	c.70 others(563): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTATTACATAT ATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(545): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	436	0.0023	552	c.-26 others(563): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(545): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	250	0.0040	552	c.309 others(571): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	G G	GGAACATC others(545): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACAT GACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGA AATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAG GAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACA TGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTAT GATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAAC ATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGAC TGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCG CCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGA CAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTC AGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG03540.hp1 others(1): Show HG02559.hp2 HG02622.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0069 a0001c0001t0004 a0001c0001t0069	a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 others(1): Show a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0069g0012	4	394	0.0102	552	c.108 others(571): Show c.1082+2291_1082+2292insTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGA CCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAA TGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGA GTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATG ACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA TACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACAT CTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTGGAGACTG GAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGATACATGACCGCC AAACATGACGTGGAGACTGGAAAGGAGTCAGAGAACATCTAGAAATGACA AGTATGATACATGACCGCCAAACATGACGTGGAGACTGGAAAGGAGTCAG AGAACATCTAGAAATGACAAGTATGA		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRB2_chr12_11386540_11400567	11393319	G G	GGGCTGGT others(545): Show GGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAG ATCGGGCACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTT CCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCC TTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTT GTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGGGAC TTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGG ACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTG GAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCT TGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGG GGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGC CTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCT TGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0026 a0026	a0026c0019 a0026c0019	a0026c0019t0002 a0026c0019t0002	a0026c0019t0002g0040 a0026c0019t0002g0040	1	410	0.0024	552	c.758 others(559): Show c.758_759insTCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGAC CACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAG CCACAAGGACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCTCC TCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAG GTCCTCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGC AACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCC ACAAGGAGACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCAC AAGGACCACCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCT CCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGG TCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGT CCCGAAGTGCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAA GGAGGCAACCAGCC	p.Pro others(565): Show p.Pro253_Gln254insGlnGlyProProProProProGlyLysProGl nGlyProProProGlnGlyGlyAsnLysProGlnGlyProProProProG lyLysProGlnGlyProProProGlnGlyAspLysSerArgSerProArg SerProProGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnPr oGlnGlyProProProProProGlyLysProGlnGlyProProProGlnG lyGlyAsnLysProGlnGlyProProProProGlyLysProGlnGlyPro ProProGlnGlyAspAsnLysSerArgSerSerArgSerProProGlyLy sProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyProProP roProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLysPro GlnGlyProProProProGlyLysProGlnGlyProProProGlnGlyAs pLysSerArgSerAlaArgSerProProGlyLysProGlnGlyProProP roGlnGlyGlyAsnGlnPro	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	796/1431	758/1251	253/416			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(545): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCC TTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCT CCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCC TTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTC CCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTC TCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG03579.hp2 HG01891.hp1 HG03139.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0058 a0001c0008t0085 a0002c0003t0007 a0001c0001t0058 a0001c0008t0085 a0002c0003t0007	a0001c0001t0058g0043 a0001c0008t0085g0003 a0002c0003t0007g0103 a0001c0001t0058g0043 a0001c0008t0085g0003 a0002c0003t0007g0103	3	210	0.0143	552	c.439 others(571): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTG TCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTC CCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCT CCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTC TCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTC CCCTCCCTCTCTCCCCTCCCTCTCTC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720178	A A	AGAGGGAG others(545): Show AGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGAT GCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGG ATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAG AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGG ATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGG AGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0111 a0001c0002t0003g0111	1	322	0.0031	552	c.200 others(571): Show c.200+24077_200+24078insCCTCCCTCTCTCTCTCTGCATCCCTC CCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTC TGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTC TCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCC TCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCA TCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTC TCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTC TCTCTCTCTACATCCCTCCCTCCCTC		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948468	A A	ATGCCTGT others(545): Show ATGCCTGTCTGCAGGAGAAGCTGTGCCTGTGTGTAGAGCTGCTGTGGACC AGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGATGGAGAGAAGGGGT CCTGGACTCGGGTGCAACAAGAGGGAAGGAAGAGGTGGCTGCCTGTCTGC AGGAGAAGCCGTGTCCATGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAG GGAGGGCACAGGGTGGTGATGAGATGGAGAGAAGGGGTCCTGGACTCGGG TGCAACAAGAGGGAAGGAACAGGTGGCTGCCTGTCTGCAGGAGAAGCTGT GCCTGTGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGG GTGGTGATGAGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAGAGG GAAGGAAGAGGTGGCTGCCTGTCTGCAGGAGAAGCCGTGTCCATGTGTAG AGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGA TGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAGAGGGAAGGAACAGGT GGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0107 a0002c0003t0107	a0002c0003t0107g0068 a0002c0003t0107g0068	1	218	0.0046	552	c.166 others(569): Show c.166-8935_166-8934insTGAGATGGAGAGAAGGGGTCCTGGACTC GGGTGCAACAAGAGGGAAGGAAGAGGTGGCTGCCTGTCTGCAGGAGAAGC CGTGTCCATGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCAC AGGGTGGTGATGAGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAG AGGGAAGGAACAGGTGGCTGCCTGTCTGCAGGAGAAGCTGTGCCTGTGTG TAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGGTGATG AGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAGAGGGAAGGAAGA GGTGGCTGCCTGTCTGCAGGAGAAGCCGTGTCCATGTGTAGAGCTGCTGT GGACCAGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGATGGAGAGAA GGGGTCCTGGACTCGGGTGCAACAAGAGGGAAGGAACAGGTGGCTGCCTG TCTGCAGGAGAAGCTGTGCCTGTGTGTAGAGCTGCTGTGGACCAGGGGGA GGCAGGGAGGGCACAGGGTGGTGA		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCTCCCCC others(545): Show GCTCCCCCCGCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCT GAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCAC TCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCT CACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCC CCGCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTGA GCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGGCCTCACTCGCT GAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCCCGC CTCACTCGCTGAGCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGC CCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	67	0.0149	552	c.278 others(569): Show c.278-3389_278-3388insGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGGAGCTCAGCGAGT GAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCTCAG CGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCCGGGGGGGGAGCT CAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGAGCT CAGCGAGTGAGGCGGGGCGGGGCGGGGGCGGGGGGGGCTCAGCGAGTGAG GCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGT GAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCG AGTGAGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGC GAGTGAGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGCGGGGGGAGCT CAGCGAGTGAGGCGGCGGGGGGAG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79151772	G G	GGGTGGGA others(545): Show GGGTGGGAGGGGACCTGCAGGGGGAGGAGGGGAGATGAGGATGGGAGGGG ACCTGCAGGGGGAGGAGGGGAGGTGAGGATGGGAGGGGACCTGCAGGGGG AGGAGGGGAGGTGAGGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGC GATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGACGAGGATGGGAGGGGA CCTGCAGGGGGAGGAGGGGAGGCGATGGGAGGGGACCTGCAGGGGGAGGA GGGGAGGCGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGCGAGGGTG GGAGGGGACCTGCAGGGGGAGGAGGGGAGGCGATGGGAGGGGACCTGCAG GGGGAGGAGGGGAGGCGAGGGTGGGAGGGGACCTGCAGGGGGAGGAGGGG AGGTGAGGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGTGAGGATGG GAGGGGACCTGCAGGGGGAGGAGGGGAGGCGATGGGAGGGGACCTGCAGG GGGAGGAGGGGAGACGAGGATGGGAGGGGACCTGCAGGGGGAGGAGGGGA GGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	154	0.0065	552	c.-33 others(571): Show c.-33-36025_-33-36024insGCCTCCCCTCCTCCCCCTGCAGGTCC CCTCCCATCCTCGTCTCCCCTCCTCCCCCTGCAGGTCCCCTCCCATCGCC TCCCCTCCTCCCCCTGCAGGTCCCCTCCCATCCTCACCTCCCCTCCTCCC CCTGCAGGTCCCCTCCCATCCTCACCTCCCCTCCTCCCCCTGCAGGTCCC CTCCCACCCTCGCCTCCCCTCCTCCCCCTGCAGGTCCCCTCCCATCGCCT CCCCTCCTCCCCCTGCAGGTCCCCTCCCACCCTCGCCTCCCCTCCTCCCC CTGCAGGTCCCCTCCCATCGCCTCCCCTCCTCCCCCTGCAGGTCCCCTCC CATCGCCTCCCCTCCTCCCCCTGCAGGTCCCCTCCCATCCTCGTCTCCCC TCCTCCCCCTGCAGGTCCCCTCCCATCGCCTCCCCTCCTCCCCCTGCAGG TCCCCTCCCATCCTCACCTCCCCTCCTCCCCCTGCAGGTCCCCTCCCATC CTCACCTCCCCTCCTCCCCCTGCAGGTCCCCTCCCATCCTCATCTCCCCT CCTCCCCCTGCAGGTCCCCTCCCACC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14						chr17	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(545): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	308	0.0033	552	c.-75 others(571): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATAAATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(545): Show CATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	308	0.0033	552	c.-75 others(571): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATAAATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPEL1_chr10_103240887_103253016	103251130	A A	ACCAACAC others(545): Show ACCAACACCCACCACCGACTCACCATCACCCCACCATCACCACCTCCACC ATCACCACCTCCCATCACCACCTCCACCACCACCACCACCTCCCACCCAC CATCCACCTCCCCACCACCACCACCACCTCACCCACCACACCATCCCACC TCCAACACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCTCCACCACCTCACCACCACCTCCACCACTACCACCACCACTACACC ACCAACACCACCACCACCCCCCCCATCACCACCTCCACCATCATCACCAC CTCCACCATCACCACCTCCAACACCACCACCCATCACCACCACCACCTCC CACACCATCACCACCTCCCATCACCACCACCCCATCCACACCACCCATCA CCAAACCACACCACCACCACCACCTCCACCACCACACCACCACCACCACC ATGCCGACCACCACCACCATCCACCACCTCCACCACTACCACCACCACAC TCCACCACCACCACACTCCACCACCACACCTCCACCACCATCACCACCTC CAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0000 a0001c0001t0013g0000	1	375	0.0027	552	c.44 others(563): Show c.4447_*4448insCCAACACCCACCACCGACTCACCATCACCCCACC ATCACCACCTCCACCATCACCACCTCCCATCACCACCTCCACCACCACCA CCACCTCCCACCCACCATCCACCTCCCCACCACCACCACCACCTCACCCA CCACACCATCCCACCTCCAACACCACCACCACCACCATCACCACCACCAC CATCACCACCATCACCACCTCCACCACCTCACCACCACCTCCACCACTAC CACCACCACTACACCACCAACACCACCACCACCCCCCCCATCACCACCTC CACCATCATCACCACCTCCACCATCACCACCTCCAACACCACCACCCATC ACCACCACCACCTCCCACACCATCACCACCTCCCATCACCACCACCCCAT CCACACCACCCATCACCAAACCACACCACCACCACCACCTCCACCACCAC ACCACCACCACCACCATGCCGACCACCACCACCATCCACCACCTCCACCA CTACCACCACCACACTCCACCACCACCACACTCCACCACCACACCTCCAC CACCATCACCACCTCCAC		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3115		chr10	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(545): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0073 a0001c0048t0073	a0001c0048t0073g0144 a0001c0048t0073g0144	1	196	0.0051	552	c.393 others(569): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1290054	T T	TCCCCCGT others(545): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0073 a0007c0006t0001g0073	1	290	0.0035	552	c.166 others(569): Show c.1663-214_1663-213insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77704278	A A	ATATATGT others(545): Show ATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTAC ATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATA TGTATATATACATAGAAAATATATATACATGTTTTATATGTATATATACA TAGAAAATATATATACATATGTTTTATATGTATATACATAGAAAATATAT ACATATGTTTTATATGTATATATACATAGAAACTGTATATACATATGTTT TATATGTATATATACATAGAAACTGTATATACAGAGGTTTTATATGTATA TATACATAGAAACTGTATATACAGAGGTTTTATATGTATATATACATAGA AACTGTATATACAGAGGTTTTATATGTATATATACATAGAAACTGTATAT ACAGAGGTTTTATATGTATATATACATAGAAACTATATACATAGGTTTTA TATGTATATATACATAGAAACTGTATATACAGAGGTTTTATATGTATATA TACATAGAAACTGTATATACATAGGTTTTATATGTATATATACATAGAAA CTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	300	0.0033	552	c.626 others(569): Show c.626+5744_626+5745insGTACATATGTTTTATATGTATATATACA TAGAAAATATATGTACATGTTTTATATGTATATATACATAGAAAATATAT GTACATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTT TATATGTATATATACATAGAAAATATATATACATATGTTTTATATGTATA TACATAGAAAATATATACATATGTTTTATATGTATATATACATAGAAACT GTATATACATATGTTTTATATGTATATATACATAGAAACTGTATATACAG AGGTTTTATATGTATATATACATAGAAACTGTATATACAGAGGTTTTATA TGTATATATACATAGAAACTGTATATACAGAGGTTTTATATGTATATATA CATAGAAACTGTATATACAGAGGTTTTATATGTATATATACATAGAAACT ATATACATAGGTTTTATATGTATATATACATAGAAACTGTATATACAGAG GTTTTATATGTATATATACATAGAAACTGTATATACATAGGTTTTATATG TATATATACATAGAAACTGTATAT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC45A4_chr8_141202174_141313288	141203515	A A	AGAGGGAG others(545): Show AGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGGAGAGAGAGAGAGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGAGAGGAGAGGGAGAGGGAGAGAGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGAGGGAGAG GGAGAGGGAGAGAGGGAGAGGAGGGAGAGAGGGAGAGAGGGAGAGGGAGA GAGGGAGAGAGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGAGAGAGAGAGAGGGAGAGAGGAGAGAGGGAGGAGAGGGAGAGAGG AGAGAGAGAGAGAGGAGAGGAGAGGAGAGGGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGGAGAGGGGAGAGAGGGA GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0186 a0001c0004t0018g0186	1	188	0.0053	552	c.80 others(563): Show c.8056_*8057insCTCTCCCTCTCTCCCCTCTCCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCCCTCTCCTCTC CTCTCCTCTCTCTCTCTCTCCTCTCTCCCTCTCCTCCCTCTCTCCTCTCT CCCTCTCTCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCCCTCTCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCC TCTCCCTCTCTCCCTCTCCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCT CTCTCTCTCCCTCTCTCCCTCTCTCCTCTCTCCCTCTCCCTCTCCTCTCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTTCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC TCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCCCTC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					3658		chr8	TogoVar
SLC6A12_chr12_185081_219157	197074	C C	CATCCATC others(545): Show CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCTATCCATCTATCCATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0034 a0001c0012t0001g0034	1	420	0.0024	552	c.107 others(569): Show c.1076-193_1076-192insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATAGATGGATAGATGG ATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGGT AGATGGATGGATGGATGGATGGAT		SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15						chr12	TogoVar
SLC6A13_chr12_215622_267836	239218	A A	ATGGGGTG others(545): Show ATGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACCGGCTC TACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTC CCACACCATTTCCCTCAGCCACCTGCTCTACCACGTCCACCCTGTTCCCT GCCCCTTCAGCCACCTGCTCTACCACGTCCACCCTGTTCCCTGCACACGT GGGGTGTGTTGGATCCATTCCCACACCATTCCCTTCAGCCACCGGCTCTA CCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCCATTCCC ACACCATTCCCCTCAGCCACCGGCTCTACCACGTCCACCCGGTTCCCTGC ACACGTGGGGTGTGTTGGATCCATTCCCACACCATTCCCCTCAGCCACCG GCTCTACCACGTCCACCCTGTTCCCTGCACACGTGGGGTGTGTTGGATCC ATTCCCACACCATTTCCCTCAGCCACCTGCTCTACCACGTCCACCCTGTT CCCTGCCCCTTCAGCCACCTGCTCTACCACGTCCACCCTGTTCCCTGCAC ACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	442	0.0023	552	c.479 others(569): Show c.479-1209_479-1208insCGTGTGCAGGGAACAGGGTGGACGTGGT AGAGCAGGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAGCAGG TGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTGTGCA GGGAACAGGGTGGACGTGGTAGAGCCGGTGGCTGAGGGGAATGGTGTGGG AATGGATCCAACACACCCCACGTGTGCAGGGAACCGGGTGGACGTGGTAG AGCCGGTGGCTGAGGGGAATGGTGTGGGAATGGATCCAACACACCCCACG TGTGCAGGGAACAGGGTGGACGTGGTAGAGCCGGTGGCTGAAGGGAATGG TGTGGGAATGGATCCAACACACCCCACGTGTGCAGGGAACAGGGTGGACG TGGTAGAGCAGGTGGCTGAAGGGGCAGGGAACAGGGTGGACGTGGTAGAG CAGGTGGCTGAGGGAAATGGTGTGGGAATGGATCCAACACACCCCACGTG TGCAGGGAACAGGGTGGACGTGGTAGAGCCGGTGGCTGAGGGGAATGGTG TGGGAATGGATCCAACACACCCCA		SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14						chr12	TogoVar
SLC6A3_chr5_1387794_1450440	1422365	C C	CCGCTGCC others(545): Show CCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGC TGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGC TGGGTGCCCACCGCTGCCCAGTGCTGCCCATGCTGCTGGGTGCCCACTGC TGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTG CCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTG CCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCC CACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCATGCTGCTGGGTG CCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA CAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCA AGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACC CAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0128 a0001c0008t0005g0128	1	373	0.0027	552	c.654 others(567): Show c.654-352_654-351insATGGGTACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGT GGGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGGGC AGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCAC CCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGC AGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAG CGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCC AGCAGCGTGGGCAGCACTGGGCAGCAGTGGGCACCCAGCAGCATGGGCAG CACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCG GTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAGCA GCGTGGGCAGCACTGGGCAGCG		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14						chr5	TogoVar
SMOC1_chr14_69874416_70037366	69924771	G G	GGTAGGGG others(545): Show GGTAGGGGAGCTAGGGGAGGTAGAGGAGGAGGAGAGGTAGGGGAGGTAGG GGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGGGGAGGTAGGAGAGG TAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGTAAGGGAGGTAGGGG AGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGGGGAGGTA GGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGTAAGGGAG GTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGG GGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGT AAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGG AGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAG GGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAG CTAGGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGG GAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	270	0.0037	552	c.100 others(571): Show c.100-27358_100-27357insCTAGGGGAGGTAGAGGAGGAGGAGAG GTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGGAGCTAGG GGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAGGGGAGGT AAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAGCTAGGGG AGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGGGAAGTAG GGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGCAGGGGAG CTAGGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGAGGTAGGG GAAGTAGGGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGCTAGGGGAGGC AGGGGAGCTAGGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAGGAGGAGA GGTAGGGGAAGTAGGGGAGGTAAGGGAGGTAGGGGAGGTAGGGGAGCTAG GGGAGGCAGGGGAGCTAGGGGAGCTAGGGGAGGTAGGAGAGGTAGGGGAG GAGGAGAGGTAGGGGAAGTAGGGGAG		SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
SMYD3_chr1_245744347_246512279	245976449	G G	GGCCTAGG others(545): Show GGCCTAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	150	0.0067	552	c.532 others(571): Show c.532-46513_532-46512insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGAT GGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGG CTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCT TTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTT CCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCC CTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCT GGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAG GCCGGAGACGATGGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(545): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	302	0.0033	552	c.12+ others(567): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(545): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAG GGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAG AGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	256	0.0039	552	c.22 others(563): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAG AGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGG GAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGA GGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGG GAGAGAGAGGGAGAGAGA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding					1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(545): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAG GGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAG AGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0027 a0027	a0027c0075 a0027c0075	a0027c0075t0001 a0027c0075t0001	a0027c0075t0001g0157 a0027c0075t0001g0157	1	256	0.0039	552	c.22 others(563): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG AGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAG GGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGG AGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGGGGAGGGAG AGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGG GAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGA GGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAGG GAGAGAGAGGGAGAGAGA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding					1886		chr12	TogoVar
TBC1D22A_chr22_46757650_47180693	46772196	T T	TACACATA others(545): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACACACATATATATGTATA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	112	0.0089	552	c.62+ others(567): Show c.62+9349_62+9350insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACATACACATATATATGTATACACACATACACATATATATGTATACACA CACACATATATATGTATACACACACATATATATGTATACACACACATATA TATGTATACACACACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TECTA_chr11_121096243_121196490	121185620	C C	CAGATGTT others(545): Show CAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGC TTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp1 others(45): Show HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG02004.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG03017.hp2 HG03834.hp2 HG03942.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19062.hp1 NA19066.hp1 NA19079.hp1 NA19083.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0022 a0028	a0001c0003 a0001c0006 a0002c0045 others(3): Show a0001c0003 a0001c0006 a0002c0045 a0005c0012 a0022c0038 a0028c0034	a0001c0003t0002 a0001c0006t0002 a0002c0045t0002 others(3): Show a0001c0003t0002 a0001c0006t0002 a0002c0045t0002 a0005c0012t0002 a0022c0038t0002 a0028c0034t0002	a0001c0003t0002g0002 a0001c0003t0002g0029 a0001c0003t0002g0050 others(43): Show a0001c0003t0002g0002 a0001c0003t0002g0029 a0001c0003t0002g0050 a0001c0003t0002g0100 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0121 a0001c0003t0002g0123 a0001c0003t0002g0142 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0152 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0158 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0166 a0001c0003t0002g0173 a0001c0003t0002g0196 a0001c0003t0002g0283 a0001c0003t0002g0290 a0001c0003t0002g0295 a0001c0003t0002g0297 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0301 a0001c0003t0002g0302 a0001c0003t0002g0308 a0001c0006t0002g0031 a0001c0006t0002g0062 a0001c0006t0002g0066 a0001c0006t0002g0077 a0001c0006t0002g0114 a0001c0006t0002g0197 a0001c0006t0002g0304 a0001c0006t0002g0305 a0002c0045t0002g0038 a0005c0012t0002g0153 a0005c0012t0002g0157 a0005c0012t0002g0159 a0022c0038t0002g0122 a0028c0034t0002g0016	48	348	0.1379	552	c.600 others(571): Show c.6000-2170_6000-2169insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTT		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(545): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0252 a0001c0003t0001g0252	1	392	0.0026	552	c.228 others(571): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(545): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18973.hp1 HG02071.hp2 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0088 a0002c0002t0001 a0002c0002t0088	a0002c0002t0001g0201 a0002c0002t0088g0160 a0002c0002t0001g0201 a0002c0002t0088g0160	2	314	0.0064	552	c.189 others(567): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTC		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)