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
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(416): Show AGGGGAAGAGGGAGGAGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGGAGAGGGGGGAGGGGGAGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGG GGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	318	0.0031	423	c.36 others(434): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGGAGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGG AGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGA GGAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGGAGGAG GGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAG GAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(416): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCAGCCCAGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACA CTCGGCCCGGCATCATGGGCTGGATTTAGGATGGTGACTGCCGGACACTC GGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCAGC CCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0117 a0002c0026t0001g0117	1	180	0.0056	423	c.-35 others(444): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCTGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCATGATGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCTGGGCTGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCA GTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGATGCCGGGCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641372	C C	CGGGCTGG others(416): Show CGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGG GCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCT GGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGA TTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTT AGGATGGTGACTGCCGGACACTCGGCCCGGCATCATGGGCTGGATTTAGG ATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATG GTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTG ACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACT GCCGGACACTCGGCCCGGCATCAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	180	0.0056	423	c.-35 others(444): Show c.-351-12917_-351-12916insATGATGCCGGGCCGAGTGTCCGGC AGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGT CACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCAC CATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCAT CCTAAATCCAGCCCATGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCT AAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAA TCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCC AGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGC CCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(416): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTTTTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AATTTATAGATAAATACATATTTATATATTTAATTTATAGATAAATACAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0293 a0001c0001t0012g0293	1	308	0.0033	423	c.-75 others(442): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT GTATTTATCTATAAATTAAATATATAAATATGTATTTATCTATAAATTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAAAAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679122	A A	AAATATAT others(416): Show AAATATATATTTATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTT ACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTT ACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTACATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	308	0.0033	423	c.-75 others(442): Show c.-758+6707_-758+6708insAACTAAATATATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAA ATATTTATAAACTAAATATGTAAATATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATAT TTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATAAATATATATT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(416): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGG GAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAA GGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	396	0.0025	423	c.807 others(440): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCCTCCC TCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCC TCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCC TCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUNDC3B_chr7_87623398_87837296	87626665	T T	TATACATG others(416): Show TATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATA TACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATA CATGTCATATATGTGTGTCATATATATTGTCATATATGTGTGTCATATAC ATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACAT GTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGT CATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCA TATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATA TGTGTGTCATATATATGTCATATGTGTGTCATATATATGTCATATGTGTG TCATATATATGTCATATGTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	202	0.0050	423	c.-21 others(434): Show c.-2159_-2158insATACATGTCATATATGTGTGTCATATACATGTCA TATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATA TATGTGTGTCATATACATGTCATATATGTGTGTCATATATATTGTCATAT ATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATAT GTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGT GTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTGT GTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGT CATATACATGTCATATGTGTGTCATATATATGTCATATGTGTGTCATATA TATGTCATATGTGTGTCATATATATGTCATATGTGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1732		chr7	TogoVar
SARDH_chr9_133658560_133743352	133669058	T T	TCTCTCTC others(416): Show TCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTC CCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCC CCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT TCCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCT CCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCC TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCC CCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCATCTC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	262	0.0038	423	c.249 others(442): Show c.2495+1525_2495+1526insGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGAGGGG GAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAG GGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGG AGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(416): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	423	c.464 others(436): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTACCC others(416): Show TTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCC CACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCACTATCCCCCCACA AGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCA TAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACT GCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCT CCAACCCTCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0072 a0004c0048t0072	a0004c0048t0072g0247 a0004c0048t0072g0247	1	280	0.0036	423	c.89- others(436): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGGGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGG GGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGG GATAGTGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAG AATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAAT GAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SERINC2_chr1_31408213_31439678	31431769	G G	GAGGGTGG others(416): Show GAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGCATAGGGTGGTTAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGTTAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0240 a0002c0002t0006g0240	1	376	0.0027	423	c.101 others(442): Show c.1014-1192_1014-1191insGATAGGGTGGTTAGGGTGGTTAGGGT GGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCATAGG GTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431790	G G	GGTGGTTA others(416): Show GGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGTTAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0062 a0001c0005t0002g0062	1	376	0.0027	423	c.101 others(442): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGAGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGAGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGT GGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGAGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432102	C C	CAGGGTGG others(416): Show CAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTTAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	376	0.0027	423	c.101 others(440): Show c.1014-857_1014-856insGAGGGTGGACAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGG TTAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401787	C C	CCCGCTCA others(416): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCA CCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACC CGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	242	0.0041	423	c.41 others(434): Show c.4108_*4109insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGG TGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTG AGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGC AGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGT CGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGT GTGAGCGGGTCGGGTGTGAGCGGGGCCCGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3928		chr11	TogoVar
SIGIRR_chr11_400716_419999	401787	C C	CCCGCTCA others(416): Show CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCG GACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACC CGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGGCCCCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	423	c.41 others(434): Show c.4108_*4109insTGAGCGGGGCCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGGTGAGCGGGT CGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTG AGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGC AGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGT CGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGT GTGAGCGGGTCGGGTGTGAGCGGGGCCCGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3928		chr11	TogoVar
SLC19A1_chr21_45507565_45547440	45527686	A A	AGGCAGGG others(416): Show AGGCAGGGCGGGCCCTGGAGGTGAGTGGCAGCTGGGTATGCCCGGGAGGG CCCTGGAGGTGAGTGGCAATTGGGGGGGAGGGGGGCCTGGAGGCGGGGCA GGCCCTGGAGGTGAATAGCAGCTGGGTATGCCCGGGCAGGCCCTGGAGGT GAGTGGCAGCGGGCAGGGTGGGCCCAGGAGGTGAGAGGCAGCCAGGCAGG GCAGGCCCTGGAGGTGAGTGGCAGCAGGTTAGGACGGGCCCTGGAGGTGA GTGGCAGCGGGCAGGGTGGGCCCTGGAGGTGAGTGGCAGCCAGGCAGGGC GGGCCCTGGAGGTGAGTGGCAGTCAGTTACTGCGGGCCCTGGAGGTGAGT GGCAGCCGGGCAGGGCGGGCCCTGGAGGTGAGTGGCAGCCAGTTACTGCG GGCCCTGGAGGTGAGTGGCAGCCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0047 a0002c0003t0002g0047	1	318	0.0031	423	c.115 others(442): Show c.1152-1729_1152-1728insCGGCTGCCACTCACCTCCAGGGCCCG CAGTAACTGGCTGCCACTCACCTCCAGGGCCCGCCCTGCCCGGCTGCCAC TCACCTCCAGGGCCCGCAGTAACTGACTGCCACTCACCTCCAGGGCCCGC CCTGCCTGGCTGCCACTCACCTCCAGGGCCCACCCTGCCCGCTGCCACTC ACCTCCAGGGCCCGTCCTAACCTGCTGCCACTCACCTCCAGGGCCTGCCC TGCCTGGCTGCCTCTCACCTCCTGGGCCCACCCTGCCCGCTGCCACTCAC CTCCAGGGCCTGCCCGGGCATACCCAGCTGCTATTCACCTCCAGGGCCTG CCCCGCCTCCAGGCCCCCCTCCCCCCCAATTGCCACTCACCTCCAGGGCC CTCCCGGGCATACCCAGCTGCCACTCACCTCCAGGGCCCGCCCTGCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(416): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGCC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02145.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02145.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 others(1): Show a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0205	4	314	0.0127	423	c.209 others(440): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCGG CCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC35F1_chr6_117902264_118322671	117924400	T T	TACACATG others(416): Show TACACATGCATATGTATATACACACATAGGTACACATGCATATGTATATA CACACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCA TATGTATATACACACATAGGTACACATGCATATGTATATACACACATAGG TACACATGCATATGTATATACACACATAGGTACACATGCATATGTATATA CACACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCA TATGTATATACACACATAGGTACACATGCATATGTATATACACACATAGG TACACATGCATATGTATATACACACATAGGTACACATGCATATGTATATA CACACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCA TATGTATATATACACATACGCATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	182	0.0055	423	c.173 others(442): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATATACACATACGCATAACACATGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(416): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCA GGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGC AGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGG CAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGC GGCAGGCAGGGTGGCCGTTGTCATGTCATGTGACACACGGCCTGGTTCTG AGAAGCGGCAGGCAGGGTGGCCGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0295 a0001c0003t0021g0295	1	356	0.0028	423	c.142 others(442): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAG TGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGAGAA GCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTC TGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTT CTGAGAAGTGGTGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGT TCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGG CCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGTCATGTGAC ACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570234	T T	TCATGTGA others(416): Show TCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTT GTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCCGT TGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGT GGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGG TGGCTGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAG GCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTG GGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGATTCTGAGAAGTGGT GGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGA AGCGGCGGGCAGGGTGGCTGTTGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0310 a0008c0015t0002g0310	1	356	0.0028	423	c.142 others(442): Show c.1423+1892_1423+1893insCGTTGCCATGTCATGTGACACACGGC CTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGCGACACACGG CCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCTGTTGCCATGTCATGTGAC ACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCATGCGA CACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCCGTTGCCATGTG ACACACGGCCTGATTCTGAGAAGTGGTGGGCAGGGTGGCCGTTGCCATGT CATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCTGTTG CCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTT GTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(416): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAG GGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGA CAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAG GGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGT CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCC AGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0069 a0001c0043t0001g0069	1	380	0.0026	423	c.-31 others(434): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTT CTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTC CCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCC CGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGG CAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAA ACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCGGCAAACC CCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(416): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAAGGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	251	0.0040	423	c.34 others(432): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(416): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01496.hp1 others(12): Show HG00099.hp1 HG00280.hp1 HG01496.hp1 HG02040.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02622.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA19004.hp2 NA19012.hp1 NA19064.hp1 NA19074.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0009 a0001c0001 a0013c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0041 a0013c0009t0002	a0001c0001t0001g0146 a0001c0001t0002g0002 a0001c0001t0002g0007 others(5): Show a0001c0001t0001g0146 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0021g0109 a0001c0001t0041g0199 a0013c0009t0002g0111	15	251	0.0598	423	c.34 others(432): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(416): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGA GATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGAACGGGGGAGGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0023 a0001c0003t0025g0023	1	251	0.0040	423	c.34 others(432): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCCTCCCCCGTTCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(416): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGAGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0080 a0001c0001t0033g0080	1	276	0.0036	423	c.-18 others(442): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCTCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(416): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01167.hp2 others(26): Show HG00099.hp1 HG00438.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01884.hp1 HG02004.hp2 HG02572.hp1 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG06807.hp2 NA18959.hp2 NA18968.hp1 NA18968.hp2 NA19030.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0001c0001t0039 a0001c0002t0002 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0030 a0001c0002t0050 a0001c0002t0058 a0001c0002t0059 a0001c0002t0066 a0001c0002t0067 a0001c0003t0008 a0001c0003t0023 a0001c0003t0024 a0001c0003t0026 a0001c0003t0099 a0001c0004t0007 a0001c0004t0014 a0001c0004t0104 a0001c0004t0108 a0001c0005t0041	a0001c0001t0001g0098 a0001c0001t0001g0172 a0001c0001t0004g0171 others(26): Show a0001c0001t0001g0098 a0001c0001t0001g0172 a0001c0001t0004g0171 a0001c0001t0015g0275 a0001c0001t0017g0032 a0001c0001t0039g0041 a0001c0001t0039g0075 a0001c0002t0002g0257 a0001c0002t0010g0084 a0001c0002t0017g0164 a0001c0002t0019g0170 a0001c0002t0030g0062 a0001c0002t0050g0167 a0001c0002t0058g0165 a0001c0002t0059g0065 a0001c0002t0066g0168 a0001c0002t0067g0054 a0001c0003t0008g0066 a0001c0003t0023g0028 a0001c0003t0024g0049 a0001c0003t0024g0176 a0001c0003t0026g0178 a0001c0003t0099g0073 a0001c0004t0007g0083 a0001c0004t0007g0155 a0001c0004t0014g0077 a0001c0004t0104g0175 a0001c0004t0108g0029 a0001c0005t0041g0150	29	276	0.1051	423	c.-18 others(442): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(416): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGGGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0061 a0001c0002t0013g0061	1	276	0.0036	423	c.-18 others(442): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCCCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(416): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGGGAGGGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0068 a0001c0003t0040g0068	1	276	0.0036	423	c.-18 others(442): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCCCTCCCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(416): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0079 a0001c0004t0007g0079	1	276	0.0036	423	c.-18 others(442): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TERT_chr5_1248167_1300068	1272607	C C	CCACACAT others(416): Show CCACACATCAGACCCCCATGACCAACCACCATCTAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CATCAGACCCCACAACCGCCATCCACAGTCACATCAGACCCCCACAACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0108 a0001c0013t0001g0108	1	392	0.0026	423	c.228 others(440): Show c.2287-328_2287-327insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT TGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155190979	T T	TGGGGGGG others(416): Show TGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGG GGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGC CTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCC CGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCG CGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGG GCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGT GACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCG GGGCCGAGGTGACACCGTGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	423	c.48 others(434): Show c.4861_*4862insCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAG GCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCC CGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTC ACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGC CCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCG CCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCG GGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCA GGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGC CCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4608		chr1	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(416): Show CCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGT GTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	370	0.0027	423	c.-15 others(434): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GTGCCCTG others(416): Show GTGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGT GGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAG GGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGA GAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAG GAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGT GCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGG GGGTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAA GGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTGGGAG GGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0158 a0003c0003t0001g0158	1	370	0.0027	423	c.-2+ others(438): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCT CTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCT TCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCT CCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTC CCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCA	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335005	A A	ACTGGGAG others(416): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTGGAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGG GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAG GGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTG AGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	370	0.0027	423	c.-2+ others(438): Show c.-2+3258_-2+3259insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCC AACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCC AGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCC CTCTCCTACACCCACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCAC CTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129088783	G G	GTGTCCTC others(416): Show GTGTCCTCCCTGACCGGGGTGTCCTCCATGACCGGGCGTCCTCCATGACC GGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGTGTCCTCCCTG ACCGGGGTGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGTGTCCTC TATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCC TCCCTGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTG TCCTCCCTGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGG GTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCCTGACC GGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGA CCGGGGTGTCCTCCCTGACCGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	94	0.0106	423	c.144 others(442): Show c.1444-4082_1444-4081insTCCCGGTCAGGGAGGACACCCCGGTC AGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGG TCAGGGAGGACACCCCGGTCAGGGAGGACACCCGGTCAGGGAGGACACCC GGTCAGGGAGGACACCCCGGTCATGGAGGACACCCCGGTCAGGGAGGACA CCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCCGGTCAGGGAGG ACACCCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATAGA GGACACCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACACCCCGGTCA GGGAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCCCCGG TCATGGAGGACGCCCGGTCATGGAGGACACCCCGGTCAGGGAGGACA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693459	A A	ACCACCTC others(416): Show ACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCTCCAC CTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCTCCACC TCCACCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCT CCACCACCACCACCTCCACCACCTCCTCCTCCACCACCACCACCACCTCC ACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCTCCACCACCTC CACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCA CCACCTCCACCACCACCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	33	0.0303	423	c.-33 others(434): Show c.-3309_-3308insCCACCTCCACCACCACCACCTCCACCTCCACCAC CACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACCA CCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCTCCACC ACCACCACCTCCACCTCCACCACCACCTCCACCTCCACCTCCACCACCTC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCT CCACCACCACCACCTCCACCACCACCACCTCCACCACCTCCTCCTCCACC ACCACCACCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCTC CACCTCCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCT CCACCACCACCACCACCACCTCCACCACCACCTCCACCT	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		3192		chr20	TogoVar
TRAPPC9_chr8_139722725_140462744	139755894	G G	GAGGACAG others(416): Show GAGGACAGCAGGGTGCAGGAGGAGCCAGGGTTGGGGATGAGGACAGCATG TCGCAGGAGGAGCCAGGGTTGGGGTATAAGGACAGCAGGTTGCAGGAGGA GCCAGGGTTTGGGGATGAGGACAGCAGGGTGCAGGAGGAGCCAGGGTTGG GGATGAGGACAGCATGTCGCAGGAGGAGCCAGGGTTGGGGTATAAGGACA GCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGGTCGCAG GAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGC GTTTGGGGATGAGGACAGCAGGTCGCAGGAGCCAGGGATGGGGTTAAGGA CAGCAGGTCGCAGGAGAAGCCAGGGATTGGGGATGAGGACAGCAGGTCGC AGGAGGAGCCAGGGATGGGGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0032 a0001c0002t0019g0032	1	98	0.0102	423	c.305 others(444): Show c.3056-23693_3056-23692insTATACCCCATCCCTGGCTCCTCCT GCGACCTGCTGTCCTCATCCCCAATCCCTGGCTTCTCCTGCGACCTGCTG TCCTTAACCCCATCCCTGGCTCCTGCGACCTGCTGTCCTCATCCCCAAAC GCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTC CTGCGACCTGCTGTCCTTATACCCCATCCCTGGCTCCTCCTGCGACCTGC TGTCCTTATACCCCAACCCTGGCTCCTCCTGCGACATGCTGTCCTCATCC CCAACCCTGGCTCCTCCTGCACCCTGCTGTCCTCATCCCCAAACCCTGGC TCCTCCTGCAACCTGCTGTCCTTATACCCCAACCCTGGCTCCTCCTGCGA CATGCTGTCCTCATCCCCAACCCTGGCTCCTCCTGCACCCTGCTGTCCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152449	A A	AGGGGTTG others(416): Show AGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGATGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGGGGTGAGAAGGGGGTGTGAGAG TGGGGGTGAGAAGGGGAGTGGAGAGAGGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGGAGAAGGGGAGTGAGAGAGGGGGTGAGAGGGGAGTGAGAGTGGGG GGTTGAGAAGGGGAGTGTGAGAGGGGGGTGAGAAGGGGAAGTGGAGTGGG GGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGGAGTGAGGAGTGG GGGGTTGAGAAGGGGGAGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	228	0.0044	423	c.50 others(434): Show c.5077_*5078insGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGATG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGGGGTGAG AAGGGGGTGTGAGAGTGGGGGTGAGAAGGGGAGTGGAGAGAGGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGGAGAAGGGGAGTGAGAGAGGGGGTGAGAGG GGAGTGAGAGTGGGGGGTTGAGAAGGGGAGTGTGAGAGGGGGGTGAGAAG GGGAAGTGGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGG GGGAGTGAGGAGTGGGGGGTTGAGAAGGGGGAGTGTGAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4707		chr4	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATTA others(416): Show AAAAATTAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAA TAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAA AAGAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAAAAAATAAAAAAAATAAAAAAAAT AAAAAAAATAAAAAAAATAAAAAAATAAAAAAAATAAAAAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0009 a0001c0001t0062g0009	1	352	0.0028	423	c.546 others(442): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTTTTTATTTTTTTTATTTTTTTATTTTTTTTATTTTTTTTAT TTTTTTTATTTTTTTTATTTTTTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTCTTTT CTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTATT TTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTAATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TSNARE1_chr8_142207080_142408182	142226953	A A	ACCACTGC others(416): Show ACCACTGCACCCACACAGCAGTGACAGCCAGGAACCCCACTGCACCCACA CAATAGTGACAGCCAGAACCCCCACTGCACCCACACCCCAGTGACAGCCA GGACCTCCACTGTGCCCACACCCCAGTGACAGTGAGGACCTCCACTGCAT CCACAACCCTAGTGACAGCCAGGCCCTACATCCTGCCCACAATCACAGTG ACAGCCAGGACCACCACTGCACCCACACAGCAGTGACAGCCAGGAACCCC ACTGCACCCACACGGCAGTGACAGCAAGGCCCCCCACTGCACCCACACAG CAGTGACAGCCAGGAACCCCACTGCACCCACACAATAGTGACAGCCAGAA CCCCCACTGCACCCACAACCCCAGTGACAGCCAGGACCACCACTGCACCC ACACGGCAGTAATAGCCAGGCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	238	0.0042	423	c.11 others(440): Show c.11+2519_*11+2520insGGGGCCTGGCTATTACTGCCGTGTGGGT GCAGTGGTGGTCCTGGCTGTCACTGGGGTTGTGGGTGCAGTGGGGGTTCT GGCTGTCACTATTGTGTGGGTGCAGTGGGGTTCCTGGCTGTCACTGCTGT GTGGGTGCAGTGGGGGGCCTTGCTGTCACTGCCGTGTGGGTGCAGTGGGG TTCCTGGCTGTCACTGCTGTGTGGGTGCAGTGGTGGTCCTGGCTGTCACT GTGATTGTGGGCAGGATGTAGGGCCTGGCTGTCACTAGGGTTGTGGATGC AGTGGAGGTCCTCACTGTCACTGGGGTGTGGGCACAGTGGAGGTCCTGGC TGTCACTGGGGTGTGGGTGCAGTGGGGGTTCTGGCTGTCACTATTGTGTG GGTGCAGTGGGGTTCCTGGCTGTCACTGCTGTGTGGGTGCAGTGG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
ULK4_chr3_41241599_41967103	41890887	G G	GGAAGGGA others(416): Show GGAAGGGACAGGAGGGGGAAGGAAGGGACAGGAGGGGGAAGGAAGGGACA GGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACAGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGAAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACG GGAGGGGGAAAGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGGAAGGAAGGGACGGGAGGGGGGAAGGAAGGGACGGGAGGGGG AAGGAAGGGACGGGAGCGGGGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG06807.hp2 HG02622.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052	3	72	0.0417	423	c.157 others(442): Show c.1577+4630_1577+4631insTTTCCCCGCTCCCGTCCCTTCCTTCC CCCTCCCGTCCCTTCCTTCCCCCCTCCCGTCCCTTCCTTCCCCCCTCCCG TCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCTTTCCCCCTCCCG TCCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCCG TCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTT CCCCCTCCTGTCCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCTG TCCCTTCCTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGTCCCTTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(416): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTTTTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AATTTATAGATAAATACATATTTATATATTTAATTTATAGATAAATACAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0150 a0001c0001t0079g0150	1	250	0.0040	423	c.82+ others(438): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTTTTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAATTTATAGATAAATACATATTTATATATTTAATTT ATAGATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX2_chrX_8164944_8176267	8169638	C C	CCACACAC others(416): Show CCACACACCACCTCTCCTCCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCCCCACACACCACCTCTTCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCTCCTCCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCTCCCTCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCAC ACACACTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCTCCCACACACCACCTCTTCCTCCTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCTCCCACAC ACCTCTTCCTCCCTCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0002 a0020c0021t0002	a0020c0021t0002g0023 a0020c0021t0002g0023	1	115	0.0087	423	c.39 others(432): Show c.393_*394insAGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGAGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGAGGAAGAGGTGGTGTGTGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGTGTGTGTGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGGAGGAGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGAAGAGGTGGTGTGTGGGGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGGAGGAGAGGTGGTGTGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		305		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(416): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCA AAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAA TTCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCAC AGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCC CCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCC CACCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0213 a0001c0002t0031g0213	1	388	0.0026	423	c.83- others(438): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACA GAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAG ATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGG CGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGG GGGCGTGGGGGGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGG GGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(416): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCG TCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0142 a0001c0001t0114g0142	1	232	0.0043	423	c.121 others(442): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(416): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0070 a0001c0007t0070	a0001c0007t0070g0112 a0001c0007t0070g0112	1	232	0.0043	423	c.121 others(442): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(416): Show CATATATATCATATATATGATACATGTATCATATATATGATACATGTATC ATATATATGATACATGTATCATATATATGATACATATATATCATATATAT GATACATATATATCATATATATGATACATATATATCATATATATGATACA TATATATCATATATATGATACATATATATCATATATATGATACATATATA TCATATATATGATACATATATATCATATATATGATACATATATATCATAT ATATGATACATATATATCATATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	340	0.0029	423	c.856 others(440): Show c.856+1989_856+1990insATCATATATATGATACATGTATCATATA TATGATACATGTATCATATATATGATACATGTATCATATATATGATACAT ATATATCATATATATGATACATATATATCATATATATGATACATATATAT CATATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCATATATATGATACATATATATCATATATATGATACATAT ATATCATATATATGATACATATATATCATATATATGATACATATATATCA TATATATGATACATATATATCATATATATGATACATATATATCATATATA TGATACATATATATCATATATATGATACATATATATCATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR64_chr1_241647281_241807777	241675087	A A	ATCCTTCC others(416): Show ATCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCT CCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG03471.hp2 HG01884.hp1 HG02818.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0002c0004t0003 a0001c0001t0001 a0002c0004t0002 a0002c0004t0003	a0001c0001t0001g0156 a0002c0004t0002g0324 a0002c0004t0003g0155 a0001c0001t0001g0156 a0002c0004t0002g0324 a0002c0004t0003g0155	3	326	0.0092	423	c.483 others(438): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(416): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCCTTTCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	246	0.0041	423	c.-10 others(440): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCC CTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(416): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATATCACATATATGATATATATATCATATATCACATATATGATA TATATATCATATATCACATATATGATATATATATCATATATCACATATAT GATATATATATCATATATATCATATGATATATATCATATATATCACATAT ATGATATATATCACATGTGATATATAGCATATATATCATGCTATACATCA TATATGATATATATGATATATATCACGTATGCTATATAGCATATGTGATA TATATGATATATATCACATATGCTATATAGCATATGTGATATATATGATA TATATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18992.hp2 NA18985.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	2	350	0.0057	423	c.-36 others(434): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATGATATATATATCATATATATCACA TATATGATATATATATCATATATATCACATATATGATATATATATCATAT ATCACATATATGATATATATATCATATATCACATATATGATATATATATC ATATATCACATATATGATATATATATCATATATATCATATGATATATATC ATATATATCACATATATGATATATATCACATGTGATATATAGCATATATA TCATGCTATACATCATATATGATATATATGATATATATCACGTATGCTAT ATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCATAT GTGATATATATGATATATATCACATATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar

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