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
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(506): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTTC CCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCTCCCTCCCTCCCCCTTTT CTCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACAC TTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCT TTCCCTCCTCTTCCCTCCCCCTCCTTCCCGTCCCCCTTCCCTCCCTTCCC CTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCT TCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT CCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0124 a0001c0013t0124	a0001c0013t0124g0075 a0001c0013t0124g0075	1	218	0.0046	513	c.80+ others(530): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTGCTTCCTTCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCC CTTCCCCTCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCTCC CTCCCTCCCCCTTTTCTCCTTCCCCTCCCATCCCCTACACTTCCCTCCCC TCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCC TCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCCTCCTTCCCGTCCCC CTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTC CCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTT TCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(506): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCTCTCCTTCCTTCC CCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTT CTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACA CTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCC TTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCC CTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCT TCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT CCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0066 a0001c0002t0030g0066	1	218	0.0046	513	c.80+ others(530): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCC CTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCC CTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCC CTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCC CTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCC CTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTC CCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTT TCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(506): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATTTAAATAATATATTAATATATTTAAATAA TATATATATATAATTAAATAATATATATATTTAAATATATATATATTAAT ATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATAT TAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATAT ATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATA TTTATATATATATTTTTATATATATATATTTATATATATATTTTTATATA TATATATTTATATATATATTTTTATATATATATATTTATATATATATTTT TAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	408	0.0025	513	c.182 others(530): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATTTAAATAA TATATTAATATATTTAAATAATATATATATATAATTAAATAATATATATA TTTAAATATATATATATTAATATATATATTTAAAGATATATATTAAATTA TATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAA TATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATAT ATATTTTTAAATATATATATATTTATATATATATTTTTATATATATATAT TTATATATATATTTTTATATATATATATTTATATATATATTTTTATATAT ATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RPH3AL_chr17_207389_357807	315929	C C	CTCCACCT others(506): Show CTCCACCTCCACTGACCTGTAGTCTCTGTGCTCCACCTCCACTGAATTGT AGTCCCTGTGACCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTC CACTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTACCCCACCTCCACTGACCTG TAGTCCCTGTGCTCCACCTCCACTGACCTGTAGTCACTGTGCACCCACCT CCATTGACCTGCAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTG TGCCCCACCTCCACTGACCTGTTGTCTCTGTGCTACACCTCCACTGACCT GTTGTCTCTGTGCTACACCTCCACTGAACTGTAGTCCCTGTGCCCCACCT CCACTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACCTGTAGTCCCTG TGCTCCATCTCCACTGACCTGCAGTCCCTGTGCCCCCACCTCCATTGACC TGTAATCCCTGTGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	133	0.0075	513	c.351 others(530): Show c.351+3490_351+3491insTCACAGGGATTACAGGTCAATGGAGGTG GGGGCACAGGGACTGCAGGTCAGTGGAGATGGAGCACAGGGACTACAGGT CAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGGTGGGGCACAGG GACTACAGTTCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGGAGGT GTAGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAGGGACTACAGGT CAATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGAGGTGGGTGCACAG TGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGTACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACAACAGG TCAGTGGAGGTGGGGCACAGGGACTACAGGTCAGTGGAGGTGGAGCACAG AGACTACAGGTCAATGGAGGTGGGGTCACAGGGACTACAATTCAGTGGAG GTGGAGCACAGAGACTACAGGTCAGTGGAGGTGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(506): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01074.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0032 a0001c0002t0004g0027 a0001c0002t0004g0032	2	332	0.0060	513	c.632 others(530): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(506): Show AATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGAATAGGGTGGTTAGGGTGGATAGGATGGTTAG GGTGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0171 a0001c0004t0010g0171	1	376	0.0027	513	c.101 others(532): Show c.1014-1173_1014-1172insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGAATAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(506): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGACGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAG GGTGGACAGGGTGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0004 a0002c0011t0001g0004	2	376	0.0053	513	c.101 others(532): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGACG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGG ATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(506): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0076 a0001c0003t0002g0076	1	376	0.0027	513	c.101 others(532): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(506): Show AATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGT TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0363 a0002c0002t0001g0363	1	376	0.0027	513	c.101 others(532): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGG GTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431859	T T	TAGGGTGG others(506): Show TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0102 a0002c0017t0001g0102	1	376	0.0027	513	c.101 others(532): Show c.1014-1091_1014-1090insTAGGGTGGAGAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(506): Show CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0306	1	376	0.0027	513	c.101 others(532): Show c.1014-1074_1014-1073insTTAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA TAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431903	A A	ATAGGGTG others(506): Show ATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGCTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGCTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0173 a0001c0004t0003g0173	1	376	0.0027	513	c.101 others(532): Show c.1014-1047_1014-1046insACAGGGTGGAGAGGGTGGAGAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGCTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431994	T T	TAGGGTGG others(506): Show TAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGAATAGGGTGGATAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	376	0.0027	513	c.101 others(530): Show c.1014-966_1014-965insTTAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGAAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG TTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432039	C C	CAGGGTGG others(506): Show CAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGAGTGG AGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA TAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGG TGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0048 a0001c0001t0011g0048	1	376	0.0027	513	c.101 others(530): Show c.1014-921_1014-920insTTAGGGTGGATAGGGTGGTTAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGTTAGAGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(506): Show TAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTG GAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGATGGTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0201 a0001c0004t0003g0201	1	376	0.0027	513	c.101 others(530): Show c.1014-795_1014-794insTTAGGGTGGATAGGGTGGACAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAGA GGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGATGGTCAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A31_chr16_89190761_89205537	89192567	C C	CTCATTAC others(506): Show CTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACC CCGCCCCGTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTC CCTAACCCCGCCCCTCAGTACCAGCCACGCCGCTTCCTCCCCAGCTCCTC CTCCTCCGTAACCCCGCCCCCTCAATACCAGCCACGCCCCTTCCTCCCCA GTTCCACCTCCTCCGCAACACCACCCACTCATTACCAGCCACGCCGCTTC CACCCAACCCGCCCCCTGCTCGCCAACCCCGCCCCCTCATTACTAGCCAC GCCCCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTAC CAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCG TCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCC CGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCC CTAACCCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	428	0.0023	513	c.34 others(524): Show c.3431_*3432insCGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGA GGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTAGGGAGGAGGCGGAG CTGGGGAGGAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGA GGCGGAGCTGGGGAGGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTA GGGAGGAGGCGGAGCTGGGGAGGAAGGGGCGTGGCTAGTAATGAGGGGGC GGGGTTGGCGAGCAGGGGGCGGGTTGGGTGGAAGCGGCGTGGCTGGTAAT GAGTGGGTGGTGTTGCGGAGGAGGTGGAACTGGGGAGGAAGGGGCGTGGC TGGTATTGAGGGGGCGGGGTTACGGAGGAGGAGGAGCTGGGGAGGAAGCG GCGTGGCTGGTACTGAGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGAG GAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGAGGAGGAGC TGGGGAGGAAGCGGCGTGGCTGGTAATGA	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3193		chr16	TogoVar
SLC22A31_chr16_89190761_89205537	89192567	C C	CTCATTAC others(506): Show CTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACC CCGCCCCGTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTC CCTAACCCCGCCCCTCAGTACCAGCCACGCCGCTTCCTCCCCAGCTCCTC CTCCTCCGTAACCCCGCCCCCTCAGTACCAGCCACGCCCCTTCCTCCCCA GTTCCACCTCCTCCGCAACACCACCCACTCATTACCAGCCACGCCGCTTC CACCCAACCCGCCCCCTGCTCGCCAACCCCGCCCCCTCATTACTAGCCAC GCCCCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTAC CAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCG TCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCC CGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCC CTAACCCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG01928.hp2 others(17): Show HG01074.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG02300.hp2 HG03491.hp1 HG03927.hp2 NA18939.hp2 NA18944.hp2 NA18962.hp2 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA19003.hp1 NA19005.hp2 NA19054.hp1 NA19064.hp2 NA19078.hp1	a0003 a0020 a0003 a0020	a0003c0005 a0020c0029 a0003c0005 a0020c0029	a0003c0005t0001 a0020c0029t0001 a0003c0005t0001 a0020c0029t0001	a0003c0005t0001g0004 a0003c0005t0001g0016 a0003c0005t0001g0044 others(1): Show a0003c0005t0001g0004 a0003c0005t0001g0016 a0003c0005t0001g0044 a0020c0029t0001g0065	20	428	0.0467	513	c.34 others(524): Show c.3431_*3432insCGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGA GGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTAGGGAGGAGGCGGAG CTGGGGAGGAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGA GGCGGAGCTGGGGAGGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTA GGGAGGAGGCGGAGCTGGGGAGGAAGGGGCGTGGCTAGTAATGAGGGGGC GGGGTTGGCGAGCAGGGGGCGGGTTGGGTGGAAGCGGCGTGGCTGGTAAT GAGTGGGTGGTGTTGCGGAGGAGGTGGAACTGGGGAGGAAGGGGCGTGGC TGGTACTGAGGGGGCGGGGTTACGGAGGAGGAGGAGCTGGGGAGGAAGCG GCGTGGCTGGTACTGAGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGAG GAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGAGGAGGAGC TGGGGAGGAAGCGGCGTGGCTGGTAATGA	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3193		chr16	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(506): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCT CCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCA CCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02273.hp2 HG01928.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0019 a0001c0001t0002 a0002c0002t0019	a0001c0001t0002g0003 a0002c0002t0019g0121 a0001c0001t0002g0003 a0002c0002t0019g0121	2	160	0.0125	513	c.688 others(530): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTA CCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCA CCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(506): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCA CCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp2 NA19057.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0002 a0001c0003t0001 a0002c0006t0002	a0001c0003t0001g0132 a0002c0006t0002g0010 a0001c0003t0001g0132 a0002c0006t0002g0010	2	160	0.0125	513	c.688 others(530): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCA CCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(506): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCA CCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0157 a0001c0003t0020g0157	1	160	0.0063	513	c.688 others(530): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCA CCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(506): Show GTATATATATACACATAGTATATATATTCTACGTGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACATAGTA TATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATAT ATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGTA TATATATTCTACGTGTGTATATATATACACATAGTATATATATTCTACGT GTATGTATACACATATATACATAGAATATATATACTATGTGTATATATAT ACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACTAT GTGTATATATACGTAGAATATATATACTATGTGTGTATATATACGTAGAA TATATATACTATGTGTATATATATACGTAGAATATATATACTATGTGTAT ATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG00733.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0013 a0001c0001t0001g0037	2	182	0.0110	513	c.174 others(532): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TATATATATACACATAGTATATATATTCTACGTATATATATACACATAGT ATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTATA TATATACACATAGTATATATATTCTACGTATATATATACACATAGTATAT ATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTATA TATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAGT ATATATATTCTACGTGTATGTATACACATATATACATAGAATATATATAC TATGTGTATATATATACGTAGAATATATATACTATGTGTATATATACGTA GAATATATATACTATGTGTATATATACGTAGAATATATATACTATGTGTG TATATATACGTAGAATATATATACTATGTGTATATATATACGTAGAATAT ATATACTATGTGTATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246071928	A A	ACTGTGCT others(506): Show ACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTTTCCGCTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGA TTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGG GGAGGGATTCGTGTGCTCTCCACTGTGCTCACTGTCTTTGCATCCTGTTA GTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTT CCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTG GATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCT CACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCA CTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTG CTCTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGAT TCGTGTGCTTTCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	513	c.532 others(534): Show c.532-141992_532-141991insCGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAGAGCACACGAATC CCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCAC ACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATG CAAAGACAGTGAGCACAGTGGAGAGCACACGAATCCCTCCCCAGAACTAA CAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCA GAACTAACACGATGCAGCGACAGTGAGCACAGCGGAAAGCACACGAATCC CTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(506): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCT GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTG TGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02027.hp1 others(3): Show HG00423.hp2 HG00544.hp2 HG02027.hp1 HG02056.hp1 HG02165.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0003 a0001c0001 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0002g0066 a0001c0011t0002g0049 a0002c0003t0002g0104	6	150	0.0400	513	c.532 others(534): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAA GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG AAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(506): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATAAACATATATTATAGTTTATATAATATATACATATATTATAGTTT ATATAATATATACATATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0120 a0003c0006t0001g0120	1	302	0.0033	513	c.12+ others(528): Show c.12+4102_12+4103insGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATAAACATATATTATAGTTTATATAATATATA CATATATTATAGTTTATATAATATATACATATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89852277	A A	ATCTTCCA others(506): Show ATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCC TCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCCCCACCC CCTGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCC CAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTC TCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCG GATCCCATGGCCCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	356	0.0028	513	c.645 others(530): Show c.645+1629_645+1630insCCCCCACCCCCCAGATCCCCTGGCCCAT CTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTC TCCCCACCCCCTGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCC ATCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCT CACCCCCCGGATCCCATGGCCCCTCTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAATAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0008 a0017c0032t0008	a0017c0032t0008g0137 a0017c0032t0008g0137	1	398	0.0025	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0005 a0008c0027t0005	a0008c0027t0005g0151 a0008c0027t0005g0151	1	398	0.0025	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAG GCTCATTTTTTGTGTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18906.hp2 NA18987.hp1 HG02647.hp1 NA18906.hp2 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0239 a0002c0002t0001g0257 a0002c0002t0001g0258	3	398	0.0075	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAATAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02258.hp1 HG02622.hp2 NA18906.hp1 NA19075.hp2	a0002 a0009 a0017 others(1): Show a0002 a0009 a0017 a0028	a0002c0002 a0009c0013 a0009c0022 others(2): Show a0002c0002 a0009c0013 a0009c0022 a0017c0033 a0028c0038	a0002c0002t0001 a0009c0013t0007 a0009c0022t0008 others(2): Show a0002c0002t0001 a0009c0013t0007 a0009c0022t0008 a0017c0033t0007 a0028c0038t0007	a0002c0002t0001g0305 a0009c0013t0007g0043 a0009c0013t0007g0330 others(4): Show a0002c0002t0001g0305 a0009c0013t0007g0043 a0009c0013t0007g0330 a0009c0022t0008g0331 a0009c0022t0008g0332 a0017c0033t0007g0152 a0028c0038t0007g0314	8	398	0.0201	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCT GTAGTCCCCGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	398	0.0025	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCGGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(506): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAACCACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAATAATAATAAATCAAA AGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp1 HG02135.hp1 others(4): Show HG00423.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG03927.hp1 NA18993.hp1	a0003 a0020 a0003 a0020	a0003c0003 a0020c0037 a0003c0003 a0020c0037	a0003c0003t0002 a0020c0037t0002 a0003c0003t0002 a0020c0037t0002	a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0194 others(2): Show a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0194 a0003c0003t0002g0197 a0020c0037t0002g0281	7	398	0.0176	513	c.43 others(524): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTATTTTT TTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAG GCTCATTTTTTGTGGTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTTG TTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCCC ACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAGC CAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGATGA others(506): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCATGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	352	0.0028	513	c.299 others(528): Show c.299-488_299-487insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGTTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTC TGCTGTCCCCTTCCCACCTCACCCCATGAGTTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(506): Show ATATTATATATACATTATATATATATACATTATATATACATTATATATAT TATATATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	224	0.0045	513	c.102 others(532): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TGTATATATATATAATATATATAATGTATATATATATAATATATATAATG TATATATAATGTATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(506): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATATAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATATAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0006 a0006c0012t0003g0006	1	272	0.0037	513	c.28 others(524): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATATAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATATAAATTATAT ATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(506): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	272	0.0037	513	c.28 others(524): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAATTATAT ATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(506): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TATAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATATAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	272	0.0037	513	c.28 others(524): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATATAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATATAAATTATAT ATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(506): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCTTCCTCCCT CCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0072 a0002c0003t0002g0072	1	334	0.0030	513	c.657 others(528): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(506): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18966.hp2 HG01261.hp1 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0016 a0002c0003t0002g0016	2	334	0.0060	513	c.657 others(528): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC ACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCT TCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(506): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	334	0.0030	513	c.657 others(528): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC TCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCT TCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(506): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0075 a0002c0003t0002g0075	1	334	0.0030	513	c.657 others(528): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC ACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCT TCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(506): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCC TTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0088 a0002c0023t0002g0088	1	334	0.0030	513	c.657 others(528): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCC ACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCT TCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917078	G G	GGGCTCGG others(506): Show GGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0215 a0002c0004t0004g0215	1	344	0.0029	513	c.218 others(528): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTC GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(506): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCCTCCCCTCCCCCTCTCCCCTC CCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCT CCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	246	0.0041	513	c.53- others(526): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCCTCTC CCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCCTCCCCTCCCCCTCT CCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCT CCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTT TCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(506): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAG AGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	242	0.0041	513	c.917 others(532): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(506): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	242	0.0041	513	c.917 others(532): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(506): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	242	0.0041	513	c.917 others(532): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
XXYLT1_chr3_195063284_195276159	195103442	C C	CGCCAGCG others(506): Show CGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCAC CCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCA TCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCG TCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCC TGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGC GGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGC CAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCC ACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCA CCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCC ATCACCTCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGC GTCCATCACCTCAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19085.hp1 NA19056.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0004 a0001c0001t0009 a0002c0002t0004	a0001c0001t0009g0165 a0002c0002t0004g0147 a0001c0001t0009g0165 a0002c0002t0004g0147	2	198	0.0101	513	c.786 others(532): Show c.786-33332_786-33331insATGAGGTGATGGACGCAGGCCGCTGG CGTGGGGTGATGGACGCAGGCCGCTGGCGTGAGGTGATGGACGCAGGCCG CTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAG GCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGAC GCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGAT GGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGG TGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGT GGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTG GCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCC GCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCA GGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGC	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
YBEY_chr21_46281342_46302751	46293658	A A	ACAGCCAC others(506): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	404	0.0025	513	c.339 others(530): Show c.339+2211_339+2212insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294507	C C	CCTTGGTT others(506): Show CCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG AAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTC TAGATTAAATTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	404	0.0025	513	c.340 others(530): Show c.340-1654_340-1653insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(506): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATGACATATATCATATGTGATATATGTCACATATAT CATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATAT CATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATAT CATATATATGATATATATCACATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATCATATATATCATATATATATCATATATATGATATATATCATATAT ATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	513	c.-34 others(524): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATGACATATATCATATGTGAT ATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTGAT ATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTGAT ATATGTCACATATATCATATATATGATATATATCACATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATCATATATATCATATATATATCATATATATG ATATATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar

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Search Results (Total: 10000 hits)