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
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(398): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCC CGCCCGCCCCCACCCCGCGCGCGCCCGCCCCCACCCCGCGCGCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCA CCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGC GCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCC GCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0239 a0001c0003t0002g0239	1	376	0.0027	405	c.-58 others(412): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCGCGCCCGCCCGCCCCCACC CCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCCCACCCCGC GCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCC GCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC CCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC GCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(398): Show TAATATATAATATATAATATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATATTATATATAATATATATATTATATATAATAT ATATTATATATAATATAATATATATAATATAATATATATATTATATATAA TATATATTATATATTATATATAATATATATTTATATATAATATATAAATA TATATTATATATAATATATAATATATAATTATATATTATATATTATATAT AATATATATTTATATATAATATATAAATATAATTATATATTATATATAAT ATATATTTATATATTATATATAATATATAAATATATATTATATATATTTA ATATATATTTTATATATAAATTATATATTATATATATTTAATATATATTT TATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	188	0.0053	405	c.193 others(424): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATT ATATTTATATATTATATATAAATATATATTATATATAATATATAATATAT AATTATATATTATATATTATATATAATATATATTTATATATTATATATAA ATATATATTATATATAATATATAATATATATTATATATAATATATATATT ATATTATATATATTATATTATATATAATATATATTATATATAATATATAT ATTATATATAATATATATTATATATTATATATATTATATATTATATATTA TATATTATATATATTATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668413	T T	TCTCCCTT others(398): Show TCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCT CTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCT CTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCC TCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCC TCTCCCTCACCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCGC CCTCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCC CTCACC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0046 a0002c0002t0003g0046	1	262	0.0038	405	c.249 others(424): Show c.2496-1544_2496-1543insGGTGAGGGAGAGGGAGGATGAGGGGA GAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAG AGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTG AGGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGG AGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGG AGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGT GAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGG GAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGGTAAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669031	C C	CACCCTCC others(398): Show CACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTA CCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACC CTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCT CTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCATCT CCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCTCACCTTCCCTCTCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCT TACCCTCCCTCTTCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTC TCCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0187 a0001c0016t0003g0187	1	262	0.0038	405	c.249 others(424): Show c.2495+1552_2495+1553insAGGGGAGAGGGAAGGTGAGGGAGAGG GAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGG GAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG AGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGAGA GGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAG GGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATG AGGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTG AGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAG AGAGAGGGAGGGTGAGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP4_chr19_1900399_1931013	1923871	C C	CACCTCGG others(398): Show CACCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCG AAGTGCTGGGATTACAGGCGTGAGTCCCCATGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	442	0.0023	405	c.514 others(420): Show c.514-237_514-236insACCTCGGCCTCCCGAAGTGCTGGGATTACA GGCGTGAGCCACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGG GTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTC TGTCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGTCCCCAT GCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGT TTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCT CCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTT TATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGA ACTCCAGAGCTCAGACAGTCTGTCT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1923871	C C	CGCCTCGG others(398): Show CGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCG AAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	442	0.0023	405	c.514 others(420): Show c.514-211_514-210insTACAGGCGTGAGCCACCGTGCCCGGCCTAT TTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTC TCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCT GGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGT AGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCT CAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTG AGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCA CCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTG CCTCGGCCTCCCGAAGTGCTGGGAT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1923912	A A	ACCGTGCC others(398): Show ACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	442	0.0023	405	c.514 others(420): Show c.514-103_514-102insCGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGCCACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCG TGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTG TTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCC TCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTT TTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCG AACTCCAGAGCTCAGACAGTCTGTC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1923912	A A	ACCGTGCC others(398): Show ACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	442	0.0023	405	c.514 others(418): Show c.514-49_514-48insTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCT GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCCCCGTGCCCGGCC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1924006	T T	TGCCTCGG others(398): Show TGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCG AAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	442	0.0023	405	c.514 others(418): Show c.514-49_514-48insTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCCCCGTGCCCGGCC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1924006	T T	TGCCTCGG others(398): Show TGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCG AAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	442	0.0023	405	c.514 others(418): Show c.514-49_514-48insTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCCCCGTGCCCGGCC	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(398): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0024 a0002c0002t0004 a0002c0002t0024	a0002c0002t0004g0025 a0002c0002t0024g0001 a0002c0002t0004g0025 a0002c0002t0024g0001	2	150	0.0133	405	c.914 others(422): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGG GCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGT GATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(398): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGG GTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGT GGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	158	0.0063	405	c.860 others(422): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGT GGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGA TTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(398): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0003 a0002c0002t0012	a0002c0002t0003g0117 a0002c0002t0012g0103 a0002c0002t0003g0117 a0002c0002t0012g0103	2	158	0.0127	405	c.860 others(422): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGG GCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGT GATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGG TGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431841	T T	TAGGATGG others(398): Show TAGGATGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACA GGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0232 a0001c0004t0015g0232	1	376	0.0027	405	c.101 others(424): Show c.1014-1123_1014-1122insATGGTTAGGGTGGATAGGATGGTTAG GGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGT GGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431931	T T	TAGGGTGG others(398): Show TAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGGATGGTTA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0337 a0001c0001t0006g0337	1	376	0.0027	405	c.101 others(424): Show c.1014-1029_1014-1028insATAGGGTGGTTAGGGTGGAGAGGGTG GACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGG GTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGAGAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739787	A A	AGGACAGT others(398): Show AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0059 a0002c0002t0004g0059	1	445	0.0023	405	c.-31 others(416): Show c.-3126_-3125insGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCAC AGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3083		chr17	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(398): Show CTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCC CCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCC TCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCC CTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCT CTTCCTTCCTCTCCCCTCCTGGTTTCTCCCTCTCCCTCCCTCTCCCCCTC CTGGTTTCTCCCCCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCC CTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCC CTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTT TCTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0003 a0001c0091t0003	a0001c0091t0003g0074 a0001c0091t0003g0074	1	374	0.0027	405	c.248 others(422): Show c.248-1259_248-1258insCCCTCCTGGTTTCTCCCCTCTTCCTTCC TCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTT CTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCT CTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTC TCCCCTCTTCCTTCCTCTCCCCTCCTGGTTTCTCCCTCTCCCTCCCTCTC CCCCTCCTGGTTTCTCCCCCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCC CTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCT CTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCA CCGTTTTCTCCTTCTCCCTCCCTCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(398): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA GGGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02735.hp1 HG03017.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0012 others(5): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0002c0008 a0002c0028 a0002c0041 a0003c0005	a0001c0002t0001 a0001c0002t0109 a0001c0003t0002 others(38): Show a0001c0002t0001 a0001c0002t0109 a0001c0003t0002 a0001c0003t0035 a0001c0003t0036 a0001c0012t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0008 a0002c0001t0009 a0002c0001t0010 a0002c0001t0013 a0002c0001t0015 a0002c0001t0017 a0002c0001t0018 a0002c0001t0019 a0002c0001t0021 a0002c0001t0029 a0002c0001t0032 a0002c0001t0039 a0002c0001t0046 a0002c0001t0048 a0002c0001t0058 a0002c0001t0059 a0002c0001t0085 a0002c0001t0088 a0002c0001t0089 a0002c0001t0092 a0002c0001t0093 a0002c0001t0098 a0002c0001t0106 a0002c0001t0107 a0002c0008t0017 a0002c0008t0067 a0002c0008t0097 a0002c0028t0020 a0002c0041t0013 a0003c0005t0016 a0003c0005t0032	a0001c0002t0001g0168 a0001c0002t0001g0261 a0001c0002t0109g0312 others(64): Show a0001c0002t0001g0168 a0001c0002t0001g0261 a0001c0002t0109g0312 a0001c0003t0002g0153 a0001c0003t0035g0003 a0001c0003t0036g0004 a0001c0012t0006g0103 a0002c0001t0001g0111 a0002c0001t0001g0137 a0002c0001t0002g0113 a0002c0001t0002g0145 a0002c0001t0002g0155 a0002c0001t0002g0159 a0002c0001t0002g0176 a0002c0001t0002g0178 a0002c0001t0002g0187 a0002c0001t0002g0188 a0002c0001t0002g0211 a0002c0001t0002g0268 a0002c0001t0002g0271 a0002c0001t0002g0273 a0002c0001t0002g0275 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0003g0160 a0002c0001t0005g0090 a0002c0001t0005g0144 a0002c0001t0005g0192 a0002c0001t0005g0213 a0002c0001t0005g0219 a0002c0001t0008g0265 a0002c0001t0009g0146 a0002c0001t0009g0190 a0002c0001t0010g0263 a0002c0001t0010g0264 a0002c0001t0013g0121 a0002c0001t0013g0150 a0002c0001t0013g0256 a0002c0001t0015g0200 a0002c0001t0017g0133 a0002c0001t0018g0167 a0002c0001t0018g0262 a0002c0001t0019g0165 a0002c0001t0019g0278 a0002c0001t0021g0019 a0002c0001t0029g0162 a0002c0001t0032g0154 a0002c0001t0039g0014 a0002c0001t0046g0011 a0002c0001t0048g0022 a0002c0001t0058g0035 a0002c0001t0059g0036 a0002c0001t0085g0170 a0002c0001t0088g0281 a0002c0001t0089g0217 a0002c0001t0092g0215 a0002c0001t0093g0156 a0002c0001t0098g0299 a0002c0001t0106g0311 a0002c0001t0107g0305 a0002c0008t0017g0208 a0002c0008t0067g0046 a0002c0008t0097g0298 a0002c0028t0020g0089 a0002c0041t0013g0255 a0003c0005t0016g0166 a0003c0005t0032g0163	67	316	0.2120	405	c.257 others(424): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401547	C C	CCCCGCCC others(398): Show CCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGCCCCG CTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	242	0.0041	405	c.43 others(416): Show c.4348_*4349insTGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGG GCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4168		chr11	TogoVar
SIGIRR_chr11_400716_419999	401901	G G	GACCCGCT others(398): Show GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCCGCTCACCCGG GACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	242	0.0041	405	c.39 others(416): Show c.3994_*3995insGGGGTCCCGGGTGAGCGGGGGCGGGTGTGAGCGG GGCCGGGGTGAGCGGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTG AGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGG CTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGT GTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGA GCGGGTCGGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3814		chr11	TogoVar
SIGIRR_chr11_400716_419999	401913	C C	CCCCGACC others(398): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCCGA CCCGCTCACACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACCCCGGCCCCGCTCACACCCCGCCCCGCTCACCCGGGACCCCCG CTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	242	0.0041	405	c.39 others(416): Show c.3982_*3983insTGTGAGCGGGGGTCCCGGGTGAGCGGGGCGGGGT GTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGA GCGGGTCGGGTGTGTGAGCGGGTCGGGTGTGAGCGGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCCGGGGGTGAGCGGGTCGGGGGTGAGCGG GTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTC CGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGG GTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGGTCGGGTGTGA GCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGG GTCGGGGGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3802		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(398): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGAGGCG GGAGGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGAGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGAGGCGGGGGGGCGGGA GGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGGAGGAGGCGGGGGG CGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGGGGGGCGGGGGGGC GGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0212 a0001c0003t0024g0212	1	222	0.0045	405	c.914 others(424): Show c.914-32089_914-32088insCCTCCCGCCCCCCCGCCCCCCCCGCC CCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTC CCGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTC CCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCC CCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTC CCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCG CCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTGCCGCCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SMIM36_chr17_55444856_55516452	55501395	T T	TATATATT others(398): Show TATATATTATTATATATTATAAAATATAATATATTATTATATATTATAAA ATATAATATATTATTATATATTATAAAATATAATATATTATTATATATTA TAAAATATAATATATTATTATATATTATAAAATATAATATATTATTATAT ATTATAAAATATAATATATTATTATATATTATAAAATATAATATATTATT ATATATTATAAAATATAATATATTATTATATATTATAAAATATAATATAT TATTATATATTATAAAATATAATATATTATTATATATTATAAAATATAAT ATATTATTATATATTATAAAATATAATATATTATTATATATTATAAAATA TAATATATTATTATATATTATAAAATATAATATATTATTATATATTATAA AATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	340	0.0029	405	c.17 others(424): Show c.174+9483_*174+9484insTATATTTTATAATATATAATAATATA TTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATAA TATATTATATTTTATAATATATAATAATATATTATATTTTATAATATATA ATAATATATTATATTTTATAATATATAATAATATATTATATTTTATAATA TATAATAATATATTATATTTTATAATATATAATAATATATTATATTTTAT AATATATAATAATATATTATATTTTATAATATATAATAATATATTATATT TTATAATATATAATAATATATTATATTTTATAATATATAATAATATATTA TATTTTATAATATATAATAATATATTATATTTTATAATATATAATAATAT ATTATATTTTATAATATATAATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168594832	G G	GGGCATCT others(398): Show GGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACA AGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCA CAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGG CCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAG GCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGC CTCACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19000.hp2 NA18945.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0013 a0001c0002t0002g0007 a0001c0002t0002g0013	2	180	0.0111	405	c.638 others(422): Show c.638-3986_638-3985insGGCATCTTTCTAGAGGATCGCTGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAG CTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCG AGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATCTTTCTAGAGGATCGCG GAGCTCCTCCTCATTCCTGAGGCCTCATGGGCATCTTTCTAGAGGATGGC CGAGCTCCTCCTTCCTAAGGCCTCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7706072	C C	CTGGGCTC others(398): Show CTGGGCTCCGTCTGGGCAGGGATGAGGTTGGGCTCTGCCTGGACAGAGAT GAGGCTGGGCTCTGTCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGACAG AGAAGAGGCTGGGCTCCGTCTGGGCAGGGATGAGGCTGGGCTCCGTCTGG GCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGGATGAGGCTGCGCTCCGC CTGGGCAGGGATGAGGCTGCGCTCTGCCTGGGCAGGGATGAGGCTGGGCT CTGCCTGGGCAGGGATGAGGCTGGGCTCTGCCTGGGCAGGGATGAGGCTG GGCTCTGTCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGGGATGAG GCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGGA TGAGGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	168	0.0060	405	c.186 others(424): Show c.1868+1795_1868+1796insCGTCTGGGCAGGGATGAGGTTGGGCT CTGCCTGGACAGAGATGAGGCTGGGCTCTGTCTGGGCAGGGATGAGGCTG GGCTCCGCCTGGACAGAGAAGAGGCTGGGCTCCGTCTGGGCAGGGATGAG GCTGGGCTCCGTCTGGGCAGGGATGAGGCTGGGCTCCGTCTGGGCAGGGA TGAGGCTGCGCTCCGCCTGGGCAGGGATGAGGCTGCGCTCTGCCTGGGCA GGGATGAGGCTGGGCTCTGCCTGGGCAGGGATGAGGCTGGGCTCTGCCTG GGCAGGGATGAGGCTGGGCTCTGTCTGGGCAGGGATGAGGCTGGGCTCCG CCTGGGCAGGGATGAGGCTGGGCTCCGCCTGGGCAGGGATGAGGCTGGGC TCCGTCTGGGCAGGGATGAGGTTGGGCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(398): Show TAATGATATATAATATATATCATTATATAACATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC ATGATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0041 a0001c0005t0019g0041	1	356	0.0028	405	c.-11 others(426): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(398): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATATAACATATAATGATATATAATATATATCATATAA CATATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18984.hp1 HG01943.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0034 a0001c0009t0010 a0001c0001t0034 a0001c0009t0010	a0001c0001t0034g0048 a0001c0009t0010g0294 a0001c0001t0034g0048 a0001c0009t0010g0294	2	356	0.0056	405	c.-11 others(426): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATATAACATATAATG ATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(398): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATATAACATATGATATATAATATATATCATTATATAA CATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0170 a0001c0001t0061g0170	1	356	0.0028	405	c.-11 others(426): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATATAACATATGATA TATAATATATATCATTATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATTATA others(398): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	356	0.0028	405	c.-11 others(426): Show c.-112+29237_-112+29238insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SV2B_chr15_91095257_91307565	91270863	T T	TGATGGGA others(398): Show TGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTG TGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGT CCTGTGGACGATGGGCGGACGGTGAATCTTGTGGACGATGGGAGGACGGT GAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGA CGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGG AGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGA TGGGCGGACGGTGAGTCTTGTGGACGATGGGAGGACGGTGAGTCCTGTGG ACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCT GTGGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0071 a0001c0004t0024g0071	1	214	0.0047	405	c.137 others(424): Show c.1373+2264_1373+2265insAGGACGGTGAGTCCTGTGGACGATGG GAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACG ATGGGAGGACGGTGAGTCCTGTGGACGATGGGCGGACGGTGAATCTTGTG GACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCC TGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACGGTGA GTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATGGGAGGACG GTGAGTCCTGTGGACGATGGGCGGACGGTGAGTCTTGTGGACGATGGGAG GACGGTGAGTCCTGTGGACGATGGGAGGACGGTGAGTCCTGTGGACGATG GGAGGACGGTGAGTCCTGTGGACGATGGG	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(398): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGA GGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGG GGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAG GGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGG GGGAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02647.hp1 HG00642.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0002t0021 a0001c0001t0038 a0001c0002t0021	a0001c0001t0038g0072 a0001c0002t0021g0144 a0001c0001t0038g0072 a0001c0002t0021g0144	2	276	0.0073	405	c.-18 others(424): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(398): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAGGG AGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGA GAGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	276	0.0036	405	c.-18 others(424): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TACC2_chr10_121984163_122259542	122201047	C C	CAGTGGCC others(398): Show CAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCAGAGTG GCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCACAGTGGCCAC ATCTACAGTGAGAGGACGGCCACCTCACCTGCCCACAGTGGCCACATCTA CAGTGAGAGGACGGCCACCTCACCCGCCCACAGTGGCCACATCTACAGTG AGAGGACGGCCACCTCACCCGCCCAGAGTGGCCACATCTACAGTGAGAGG ACGGCCACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGC CACCTCACCCGCCCAGAGTGGCCACATCTACAGTGAGAGGACGGCCACCT CACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCC GCCCAG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0001 a0004c0048t0001	a0004c0048t0001g0072 a0004c0048t0001g0072	1	306	0.0033	405	c.597 others(424): Show c.5971+5909_5971+5910insCGCCCAGAGTGGCCACATCTACAGTG AGAGGACGGCCACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGG ACGGCCACCTCACCTGCCCACAGTGGCCACATCTACAGTGAGAGGACGGC CACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCT CACCCGCCCAGAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCC GCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCA GAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCACAGTG GCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCAGAGTGGCCAC ATCTACAGTGAGAGGACGGCCACCTCACC	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(398): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCTACCAG AGAGGAGACACCAAAACCCACATCCACCTGAGAGGAGACACCAAACCCAC ACCCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	314	0.0032	405	c.309 others(424): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGTGTGGGTTTTGGTGT CTCGTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTCTCTCGTGGGGTATG GGTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGGGTGTCTCCTCTCGG GTGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCTCCGGTGGGTTGTGG GTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTCGGGT GGGGTGTGAGTTTGGTGTCTCCTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(398): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCCACC CACCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG03098.hp2 HG02145.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0039 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0002g0039 a0001c0001t0006g0110 a0001c0001t0006g0112	3	112	0.0268	405	c.142 others(426): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTC CTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCC CACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCAC CCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCCTCCTCCGCCCCACCCACCACCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGTG others(398): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGGCG GAAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGA ACTCACGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACGGGGGTGGGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAG GTGGGAAGGGGACACCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGC AGAGCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0050 a0002c0001t0016g0050	1	352	0.0028	405	c.299 others(422): Show c.299-1274_299-1273insAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGG TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTC ACCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCT CTGCTGTCCCCTTCCCACCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(398): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGACA GAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGAT GGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGG GGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCAC GGGTGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0062 a0002c0001t0007g0062	1	352	0.0028	405	c.299 others(422): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCC CGTGAGCTCTGCTGTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273093	A A	ACCCCACG others(398): Show ACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGAC CCCACAACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACA TCAGAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	392	0.0026	405	c.228 others(422): Show c.2287-814_2287-813insGTCTGATGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGT GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGACTGTGGATGGCGGTCGTGGGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFDP1_chr13_113579753_113646473	113625265	T T	TGTCCTCA others(398): Show TGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTTTC ACGTGTCCTCAGGTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCC TCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGT CTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGG TGTCTCTCCCGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTC AGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCT CTCACGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTC TCACGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	348	0.0029	405	c.186 others(422): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGACCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCGTCCTC AGGTGTCTCTCACGTGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625266	G G	GTCCTCAG others(398): Show GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTTTCA CGTGTCCTCAGGTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCT CAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTC TCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGT GTCTCTCCCGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCA GGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTC TCACGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTC AGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCT CACGCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	348	0.0029	405	c.186 others(422): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGACCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCATCCTC AGGTGTCTCTCACGTGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625266	G G	GTCCTCAG others(398): Show GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTTTCA CGTGTCCTCAGGTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCT CAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTC TCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGT GTCTCTCCCGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCA GGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTC TCACGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTC AGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCT CACGCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(57): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02615.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18980.hp2 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 a0001c0001t0001 a0001c0001t0006 a0002c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0158 a0001c0001t0001g0167 others(56): Show a0001c0001t0001g0020 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0006g0202 a0002c0005t0001g0174	60	348	0.1724	405	c.186 others(422): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGTCTTCAGGTGTCTCTCACGTGACCT CAGGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCAC GTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCATCCTC AGGTGTCTCTCACGTGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625285	G G	GTGTCCTC others(398): Show GTGTCCTCAGGTGTTTCTCAGGTGTCTTTCACGTGTCCTCAGGTGTCTCT CACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGCGTC CTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTG TCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGTGTCCTCAG GTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCTT CAGGTGTCTCTCACGTGACCTCAGGTGTCTCACGTGTCCTCAGGTGTCTC ACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCACGTGTCCTC AGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCATCCTCAGGTGTCT CTCACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp1 HG03540.hp2 others(1): Show HG02055.hp2 HG03486.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0271	4	348	0.0115	405	c.186 others(422): Show c.186+2012_186+2013insTTCTCAGGTGTCTTTCACGTGTCCTCAG GTGTCTCTCACTTGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCT CACGCGTCCTCAGGCGTCTCTCACGCGTCCTCAGGCGTCTCTCACGTGTC CTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCCCGT GTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGTGTCTCTCA CGTGTCTTCAGGTGTCTCTCACGTGACCTCAGGTGTCTCACGTGTCCTCA GGTGTCTCACGTGTCCTCAGGTGTCTCACGTGTCCTCAGGTGTCTCTCAC GTGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGCATCCTC AGGTGTCTCTCACATGTCCTCAGGTGT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(398): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	405	c.-27 others(416): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAG GTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCACACCTCCCTCC CGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(398): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01256.hp1 HG02738.hp1 others(3): Show HG01099.hp1 HG01256.hp1 HG02738.hp1 HG02809.hp1 HG03942.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0002t0002g0004 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0002t0002g0004	6	434	0.0138	405	c.-27 others(416): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGG TGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCC CGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMCO3_chr13_113486021_113555229	113543342	T T	TTCCTCCC others(398): Show TTCCTCCCCCTGCCCCCCGCCCTACCTCTGTCTGTGACCCCCACCTCCTC CCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCGTGCCCCC CGCCCTACCTCTGTCCGGACCCCACCTCCTCCCCCTGCCCCCTGCCCTCC CTGTCTGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTA CCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCC CTGCCCCTCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCCCCTA CCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCG TGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACC CCCACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0022 a0003c0002t0002g0022	1	368	0.0027	405	c.169 others(424): Show c.1690+3857_1690+3858insACCTCTGTCTGTGACCCCCACCTCCT CCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCGTGCCCC CCGCCCTACCTCTGTCCGGACCCCACCTCCTCCCCCTGCCCCCTGCCCTC CCTGTCTGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTT ACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCC CCTGCCCCTCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCCCCT ACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCC GTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGAC CCCCACCTCCTCCCCCTGCCCCCCGCCCT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(398): Show TCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTC TCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCT CCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCC TCGCCCTTCCCCTCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCT CCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCC TCTCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCTCTCCCCTTCCCTC CCCTCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0054 a0004c0006t0001g0054	1	114	0.0088	405	c.-25 others(424): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCTCGCCCTTCCCCTCT TCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCT CATCTCCCCTCTCCCCTCCTCTCCCTTCCCTCCCGTCCCCTCTCCCCTTC CCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCTCTCCCCTTCCCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(398): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCTCCCCTCTC CCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTC TCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCT CTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCC CCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCC CCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCT CTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCT CCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0027 a0007c0008t0003g0027	1	114	0.0088	405	c.-25 others(424): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCT CTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTC CCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCT CGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCT CCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTC TCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCT TCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP73_chr1_3647516_3741201	3706455	C C	CGCAGGCC others(398): Show CGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCTGCAG GCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCG GGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAG AGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATA GGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGAC AATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCA CGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTG CCCGCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03927.hp2 NA18940.hp1 others(2): Show HG02040.hp1 HG03927.hp2 NA18940.hp1 NA18971.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0017 a0001c0003t0006 a0001c0003t0017	a0001c0003t0006g0155 a0001c0003t0006g0159 a0001c0003t0006g0336 others(2): Show a0001c0003t0006g0155 a0001c0003t0006g0159 a0001c0003t0006g0336 a0001c0003t0006g0337 a0001c0003t0017g0227	5	358	0.0140	405	c.187 others(422): Show c.187-1080_187-1079insGGGGGTAATAGGGACAATCACGGTGCCC GCTGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAAT CACGGTGCCCGCTGCAGGCCCGGGGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(398): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATACC CCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCC TGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAA TACCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	344	0.0029	405	c.141 others(424): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCC CCCACCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCC CAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAA TCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(398): Show AAAAATAAAATAAAATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAAAATAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAACA TAAAATAACATAACATAAAATAACATAACATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACATAACA TAAAATAACATAACATAAAATAACATAACATAAAATAACATAAAATAACA TAACAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0284 a0002c0003t0003g0284	1	352	0.0028	405	c.546 others(424): Show c.5468-2441_5468-2440insATGTTATGTTATTTTATGTTATTTTA TGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTA TGTTATTTTATGTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTA TTTTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTA TTTTATGTTATTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATTTTATTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar

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Search Results (Total: 10000 hits)