JoGo: Joint Open Genome and Omics Platform

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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Select column to sort.

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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
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA CCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0063 a0001c0004t0005g0063	1	300	0.0033	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCA TCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACC ACCACCATCACCACCGCCACCATCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01255.hp1 others(12): Show HG00609.hp2 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG02145.hp2 HG02922.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp1 NA18945.hp2 NA18955.hp2 NA18967.hp2 NA19009.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0002t0014 a0001c0002t0023	a0001c0001t0001g0081 a0001c0001t0001g0195 a0001c0001t0004g0080 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0195 a0001c0001t0004g0080 a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0289 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0295 a0001c0001t0008g0017 a0001c0001t0024g0286 a0001c0002t0014g0278 a0001c0002t0014g0293 a0001c0002t0023g0284	15	300	0.0500	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGATGGTGG CGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTG ATGGTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGT GGTGATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAG TGATGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCACCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0206 a0001c0001t0010g0206	1	300	0.0033	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGTGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(67): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02258.hp1 HG02451.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0002c0003 a0003c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0001t0044 a0001c0002t0002 a0001c0002t0006 a0001c0004t0005 a0001c0005t0013 a0001c0011t0006 a0002c0003t0012 a0002c0003t0026 a0002c0003t0038 a0003c0008t0002 a0005c0010t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 others(67): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0226 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0146 a0001c0001t0002g0205 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0112 a0001c0001t0003g0137 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0208 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0010g0044 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0252 a0001c0001t0020g0119 a0001c0001t0020g0127 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0044g0275 a0001c0002t0002g0094 a0001c0002t0006g0228 a0001c0004t0005g0048 a0001c0004t0005g0064 a0001c0004t0005g0126 a0001c0005t0013g0157 a0001c0011t0006g0207 a0002c0003t0012g0145 a0002c0003t0026g0026 a0002c0003t0038g0043 a0003c0008t0002g0141 a0003c0008t0002g0142 a0003c0008t0002g0143 a0005c0010t0001g0041 a0005c0010t0001g0076	70	300	0.2333	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCATCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0272 a0001c0001t0043g0272	1	300	0.0033	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CATCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 NA18939.hp1 others(2): Show HG00438.hp2 HG02015.hp2 NA18939.hp1 NA18941.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0002g0163 a0001c0001t0003g0122	5	300	0.0167	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(734): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTC CCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCC TCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	250	0.0040	741	c.309 others(760): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCTCCCTCCCTTCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTC CCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCC TGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTG CCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(12): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01123.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02148.hp2 HG02622.hp2 HG03490.hp1 HG03654.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0001c0003 a0012c0029 a0001c0002 a0001c0003 a0012c0029	a0001c0002t0003 a0001c0002t0032 a0001c0003t0004 others(1): Show a0001c0002t0003 a0001c0002t0032 a0001c0003t0004 a0012c0029t0012	a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0008 others(12): Show a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0008 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0020 a0001c0002t0003g0024 a0001c0002t0003g0031 a0001c0002t0003g0067 a0001c0002t0003g0071 a0001c0002t0032g0012 a0001c0003t0004g0019 a0012c0029t0012g0021	15	340	0.0441	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(203): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013 a0015 a0016 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0021 a0001c0027 a0002c0004 a0002c0007 a0003c0006 a0004c0009 a0004c0015 a0006c0010 a0007c0013 a0008c0012 a0009c0016 a0009c0030 a0013c0020 a0015c0023 a0016c0024 a0017c0025 a0019c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0014 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0039 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0018 a0001c0003t0033 a0001c0003t0036 a0001c0005t0002 a0001c0014t0001 a0001c0021t0001 a0001c0027t0016 a0002c0004t0005 a0002c0004t0010 a0002c0004t0012 a0002c0004t0013 a0002c0007t0012 a0003c0006t0002 a0003c0006t0007 a0003c0006t0008 a0003c0006t0009 a0004c0009t0004 a0004c0009t0008 a0004c0009t0030 a0004c0015t0008 a0006c0010t0001 a0007c0013t0003 a0008c0012t0020 a0009c0016t0008 a0009c0030t0027 a0013c0020t0002 a0015c0023t0001 a0016c0024t0007 a0017c0025t0006 a0019c0028t0002	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 others(203): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0002g0082 a0001c0001t0002g0211 a0001c0001t0006g0001 a0001c0001t0006g0046 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0007g0047 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0096 a0001c0001t0007g0122 a0001c0001t0007g0135 a0001c0001t0007g0147 a0001c0001t0007g0168 a0001c0001t0007g0195 a0001c0001t0007g0213 a0001c0001t0012g0254 a0001c0001t0012g0266 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0024g0245 a0001c0001t0025g0239 a0001c0001t0028g0317 a0001c0001t0029g0238 a0001c0001t0037g0062 a0001c0002t0001g0022 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0003g0004 a0001c0002t0003g0007 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0068 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0125 a0001c0002t0014g0055 a0001c0002t0014g0064 a0001c0002t0014g0118 a0001c0002t0014g0219 a0001c0002t0014g0220 a0001c0002t0021g0208 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0023g0070 a0001c0002t0023g0124 a0001c0002t0039g0073 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0002g0081 a0001c0003t0002g0084 a0001c0003t0002g0117 a0001c0003t0002g0129 a0001c0003t0002g0146 a0001c0003t0002g0187 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0199 a0001c0003t0002g0206 a0001c0003t0002g0210 a0001c0003t0002g0212 a0001c0003t0008g0249 a0001c0003t0009g0083 a0001c0003t0009g0085 a0001c0003t0009g0209 a0001c0003t0009g0216 a0001c0003t0010g0214 a0001c0003t0018g0042 a0001c0003t0018g0044 a0001c0003t0018g0045 a0001c0003t0033g0191 a0001c0003t0036g0198 a0001c0005t0002g0089 a0001c0005t0002g0090 a0001c0005t0002g0093 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0097 a0001c0005t0002g0098 a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0002g0101 a0001c0005t0002g0102 a0001c0005t0002g0225 a0001c0014t0001g0314 a0001c0014t0001g0320 a0001c0021t0001g0273 a0001c0027t0016g0075 a0002c0004t0005g0127 a0002c0004t0005g0128 a0002c0004t0005g0203 a0002c0004t0010g0138 a0002c0004t0012g0009 a0002c0004t0012g0229 a0002c0004t0012g0230 a0002c0004t0013g0131 a0002c0004t0013g0139 a0002c0004t0013g0140 a0002c0004t0013g0141 a0002c0004t0013g0148 a0002c0004t0013g0217 a0002c0004t0013g0218 a0002c0007t0012g0033 a0002c0007t0012g0227 a0003c0006t0002g0080 a0003c0006t0002g0103 a0003c0006t0002g0104 a0003c0006t0002g0107 a0003c0006t0007g0111 a0003c0006t0008g0215 a0003c0006t0009g0105 a0003c0006t0009g0106 a0003c0006t0009g0108 a0003c0006t0009g0109 a0004c0009t0004g0010 a0004c0009t0004g0011 a0004c0009t0008g0112 a0004c0009t0008g0113 a0004c0009t0030g0041 a0004c0015t0008g0114 a0004c0015t0008g0115 a0006c0010t0001g0240 a0006c0010t0001g0251 a0006c0010t0001g0260 a0007c0013t0003g0034 a0007c0013t0003g0035 a0007c0013t0003g0036 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079 a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0030t0027g0069 a0013c0020t0002g0088 a0015c0023t0001g0340 a0016c0024t0007g0050 a0017c0025t0006g0066 a0019c0028t0002g0193	206	340	0.6059	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGTGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0269 a0006c0010t0001g0269	1	340	0.0029	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGTGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG01496.hp2 others(50): Show HG00741.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0011 a0018 a0020	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0017 a0001c0018 a0001c0031 a0002c0004 a0005c0011 a0011c0032 a0018c0026 a0020c0019	a0001c0001t0001 a0001c0001t0019 a0001c0001t0026 others(15): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0026 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0003t0008 a0001c0008t0004 a0001c0017t0011 a0001c0018t0004 a0001c0031t0003 a0002c0004t0012 a0005c0011t0008 a0011c0032t0011 a0018c0026t0011 a0020c0019t0004	a0001c0001t0001g0295 a0001c0001t0019g0306 a0001c0001t0019g0307 others(50): Show a0001c0001t0001g0295 a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0026g0289 a0001c0002t0003g0285 a0001c0002t0004g0282 a0001c0002t0004g0322 a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0330 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0011g0277 a0001c0002t0011g0278 a0001c0002t0011g0279 a0001c0002t0011g0294 a0001c0002t0011g0298 a0001c0002t0015g0296 a0001c0002t0015g0335 a0001c0002t0015g0337 a0001c0002t0016g0276 a0001c0002t0016g0281 a0001c0002t0016g0284 a0001c0003t0008g0293 a0001c0003t0008g0300 a0001c0003t0008g0305 a0001c0008t0004g0288 a0001c0008t0004g0290 a0001c0008t0004g0291 a0001c0008t0004g0297 a0001c0008t0004g0299 a0001c0008t0004g0301 a0001c0008t0004g0302 a0001c0008t0004g0304 a0001c0008t0004g0338 a0001c0017t0011g0280 a0001c0017t0011g0286 a0001c0018t0004g0327 a0001c0031t0003g0329 a0002c0004t0012g0303 a0005c0011t0008g0310 a0005c0011t0008g0311 a0005c0011t0008g0312 a0005c0011t0008g0313 a0011c0032t0011g0287 a0018c0026t0011g0283 a0020c0019t0004g0292	53	340	0.1559	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTGTTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0033 a0001c0002 a0010c0033	a0001c0002t0015 a0010c0033t0015 a0001c0002t0015 a0010c0033t0015	a0001c0002t0015g0321 a0010c0033t0015g0336 a0001c0002t0015g0321 a0010c0033t0015g0336	2	340	0.0059	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTGTTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(734): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAAC CATGCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACA ACAAAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTA TCTATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCG GTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCT CCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGC CCAGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCC AGGATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0309 a0001c0001t0031g0309	1	340	0.0029	741	c.-14 others(760): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAAAAAACCCTATTCAGTAAACCAT GCTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACA AAGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCT ATTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTG CGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCT GTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGG ATGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAG TGCTGGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(734): Show GTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18946.hp1 HG02083.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0088 a0001c0001t0004g0090	2	295	0.0068	741	c.715 others(758): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTC ACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCAGATTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(734): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0129 a0001c0001t0024g0129	1	295	0.0034	741	c.715 others(758): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099675	G G	GCCCCCCA others(734): Show GCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACAGCCCC CCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCC CACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAG CCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCC CCCCCACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCC CACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGC CCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCC CACAGCCCCCACACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCC CCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCCACAGCCCCCAC ACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAG CCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	67	0.0149	741	c.56- others(758): Show c.56-25839_56-25838insTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGC TGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGG CTGTGGGGGGCTGTGTGGGGGCTGTGGGGGGGGCTGTGGGGGGCTGTGGG GGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCT GTGTGGGGGCTGTGGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGC TGTGGGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGT GGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGG GCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGG GGGGCTGCTGTGGGGGGGCTGTGGGGGCTACGGGGGGCTGCTGTGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGG GGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGG CTGCTGTGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACCCCACA others(734): Show ACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACA GCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCCC ACAGCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCACACAGCCCCC CCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCC CCCACAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCCCACAGCC CCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCC ACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGC ACCCCCACAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCC CCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAG CCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCCCCA CAGCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCC CCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGC CCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCAC AGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	67	0.0149	741	c.56- others(758): Show c.56-26073_56-26072insGGGCTGTGGGGGGGCTGCTGTGGGGGGG CTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGT GGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGG GGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGG GGGGCTGTGGGGGTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGC TGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGC TGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTG GGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGT GGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGC TGTGGGGGCTGTGGGGGGGCTGTGTGGGGGCTGTGGGGGGGCTGTGGGGG CTGTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGC TGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGG GGGGGCTGTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(734): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGCATATAAAATATATAGTATATGCCATA TGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTATATATT GCATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTA TATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATA TAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATA GTATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCAT ATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATAT TGTATATAAAATATATATTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	196	0.0051	741	c.-9+ others(758): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATAATAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATACAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATATGCAATATATACCATATGGCAT ATACTATATATTTTATATGCAATATATACCATATGGCATATACTATATAT TTTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAA TATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATA TGGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACT ATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
ROBO2_chr3_77035099_77654964	77289942	G G	GCTGAGGC others(734): Show GCTGAGGCTAGATCACCCCAGACATTAAGTAAAATTGATGGTTAAACGGG TAAACTGAGGCTAGATCCCTAAAGACATAAAGTAAAATTGACGATTAAAT GGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGACGGTTA AACGGATAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGATGG TTAAACGGGTAAGCTGAGGCTAGATCACCCAAGACACAAAGTAAAATTGA TGGTTAAACGGGTAATCTGAGGCTAGATCACCCCAGACATAAAGTAAAAT TGATGGTTAAACGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAA ATTGATGGTTAAATGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGT AAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAA AGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACA TAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAG ACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCC CAGACATGAAGTAAAATTGATGGTTAAACGAGTAAGCTGAGGCTAGATCA CCCCAGACGTAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAGA TCACCCAAGACACAAAGTAAAATTGATGGTTAAACGGGTAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	160	0.0063	741	c.389 others(762): Show c.389-186891_389-186890insGCTGAGGCTAGATCACCCCAGACA TGAAGTAAAATTGATGGTTAAACGAGTAAGCTGAGGCTAGATCACCCCAG ACGTAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAGATCACCC AAGACACAAAGTAAAATTGATGGTTAAACGGGTAATCTGAGGCTAGATCA CCCCAGACATTAAGTAAAATTGATGGTTAAACGGGTAAACTGAGGCTAGA TCCCTAAAGACATAAAGTAAAATTGACGATTAAATGGGTAAGCTGAGGCT AGATCACCAAAGACATAAAGTAAAATTGACGGTTAAACGGATAAGCTGAG GCTAGATCACCAAAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCT GAGGCTAGATCACCCAAGACACAAAGTAAAATTGATGGTTAAACGGGTAA TCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGG AAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGATGGTTAAATG GGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAA ACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGTAAAATTGACGGT TAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAGAATTGAT GTTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTAAAATT GACGGTTAAACGGGTAA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	356532	T T	CCACAGGC others(734): Show CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG03831.hp2 NA18947.hp1 others(1): Show HG01978.hp1 HG03831.hp2 NA18947.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025	a0001c0001t0001g0091 a0001c0001t0003g0081 a0001c0001t0004g0087 others(1): Show a0001c0001t0001g0091 a0001c0001t0003g0081 a0001c0001t0004g0087 a0001c0001t0025g0076	4	133	0.0301	741	c.-40 others(752): Show c.-4033_-4032insAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3725		chr17	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(734): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA19043.hp1 HG00280.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0115 a0001c0001t0008g0113 a0001c0001t0001g0115 a0001c0001t0008g0113	2	133	0.0150	741	c.-40 others(752): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
RPH3AL_chr17_207389_357807	356598	T T	TCACAGTC others(734): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACA GTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0127 a0001c0001t0020g0127	1	133	0.0075	741	c.-41 others(752): Show c.-4100_-4099insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3792		chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(734): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATTATACATACATATATATGTATATATA CATATATACATGTATATATTATACATGTATATATGTATATATACATATAT ACATGTATATATTATACATGTATATATGTATATATACATATATACATGTA TATATTATACATGTATATATTAATATATAATATATAGTATATATATACAT GTATATATTATATATAAAGTATATATTATATATACGTGTATACAATATAT ATACGTGTATATATATTATATACACGTATATATAATATATTGTATACAGG TATATATACATGTATATAATATATATGTATATATAATATATTGTATACAT GTATATATATACATGATATATACACATATATATCGTGTATATATACACAT ATATGTATATATATACATGATATATACATACATATATATCATGTGTATAT ATATACATAATATACACGTATATATACATACATATATACATGTATATATA CACATATATACATACATATATATACATGTATATATACACACATATATATG TGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATA TATATATATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19043.hp1 HG02055.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0075 a0001c0002t0003g0160 a0001c0001t0001g0075 a0001c0002t0003g0160	2	170	0.0118	741	c.59- others(758): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATACACACACACACACACACACACACA CACATATACATACACATATATATGTGTGTATATATACATGTATATATATG TATGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTG TATATTATGTATATATATACACATGATATATATGTATGTATATATCATGT ATATATATACATATATGTGTATATATACACGATATATATGTGTATATATC ATGTATATATATACATGTATACAATATATTATATATACATATATATTATA TACATGTATATATACCTGTATACAATATATTATATATACGTGTATATAAT ATATATACACGTATATATATTGTATACACGTATATATAATATATACTTTA TATATAATATATACATGTATATATATACTATATATTATATATTAATATAT ACATGTATAATATATACATGTATATATGTATATATACATATATACATGTA TAATATATACATGTATATATGTATATATACATATATACATGTATAATATA TACATGTATATATGTATATATACATATATATGTATGTATAATATATACAT ATATGTATATATTATATATACATATATATGTATATATAATATATACATAT ATGTGCATATAATATACATGTCTATATGTATATATATTATACATACATGT CTATATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(734): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	741	c.-74 others(750): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(734): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0033 a0001c0002t0004g0033	1	332	0.0030	741	c.632 others(758): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(734): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTATTTTATAAAT ACAGTATTTTATAAATACAGTATTTTATAAATACAGTATTTATTTATAAA TACAGTATTTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTATTTTATAA ATACAGTATTATTTTATAAATACAGTATTTTATAAATACAGTATTTATTT ATAAATACAGTATTTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0156 a0001c0001t0011g0156	1	332	0.0030	741	c.632 others(758): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTATTTTATAAATACAGTATTTTATAAATACAGTATTTTATAAAT ACAGTATTTATTTATAAATACAGTATTTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTATTTTATAAATACAGTATTATTTTATAAATACAGTATTTTA TAAATACAGTATTTATTTATAAATACAGTATTTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(734): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATATTCCATATATATATATTCCATATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	324	0.0031	741	c.115 others(758): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATATGGAATATATATA TATGGAATATATATATATATATGGAATATATATATATATGGAATATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGIP1_chr1_66529153_66756139	66742460	C C	CTTTTTTT others(734): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCCCGG CTCACTGCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCATGGCTAATTTT TTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTG AACCCCTGAGCTCGTGATCCGCCTGCCTCGGCCTCCTAAAGTACTAAGAT TATAGGCGGTGAGCCACCGCACCCAGCCTTGCCTTTTAATTTATCTCCCA CCAGAAAACTTTTTGTTCTCTGACAGGACTTCACAGAGTTTAGACTTGTC AGGTTTAGCTGAGATCTGGGAGAATCTATTTTTCACTTTAATAACAAACT CAAAGAATCTAGGCCACAGATCAAAACTGGTCACCCATAAGCTGAATGTG GCCATGAGACAGGTTTTATTTGGCACAAACAATGGGGTTTTATTTTGTTT TTCAATTGGGGGAGAGGAACTCTCTAATACTAGAGTGATTATACTTTTCA GTGATTTGCTGGGATAAATCCTGGTTTTTTTATGTCTATTGTACTGATGT AATTATTAATTATACCCTTTTCGCTCTCAAAAATGATCCAAATTGGAATA TAAGTTATATGAGCACCCTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	302	0.0033	741	c.246 others(758): Show c.2465-586_2465-585insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCCCGGCTCACT GCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCATGGCTAATTTTTTGTAT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGAACCCC TGAGCTCGTGATCCGCCTGCCTCGGCCTCCTAAAGTACTAAGATTATAGG CGGTGAGCCACCGCACCCAGCCTTGCCTTTTAATTTATCTCCCACCAGAA AACTTTTTGTTCTCTGACAGGACTTCACAGAGTTTAGACTTGTCAGGTTT AGCTGAGATCTGGGAGAATCTATTTTTCACTTTAATAACAAACTCAAAGA ATCTAGGCCACAGATCAAAACTGGTCACCCATAAGCTGAATGTGGCCATG AGACAGGTTTTATTTGGCACAAACAATGGGGTTTTATTTTGTTTTTCAAT TGGGGGAGAGGAACTCTCTAATACTAGAGTGATTATACTTTTCAGTGATT TGCTGGGATAAATCCTGGTTTTTTTATGTCTATTGTACTGATGTAATTAT TAATTATACCCTTTTCGCTCTCAAAAATGATCCAAATTGGAATATAAGTT ATATGAGCACCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072113	A A	ATGCTTCC others(734): Show ATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTC ACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCAC TGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGC TTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATT CGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGG AGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGT TCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCC TGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGA TGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCA CTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACT GTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCT TTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTC ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	741	c.532 others(762): Show c.532-142177_532-142176insAAGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAG ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA AGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACT AACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAAT CCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCA CATGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAG CACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCA CAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGAT GCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA ACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGAAGCA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(734): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCT GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCA TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTC TGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTG CATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	150	0.0067	741	c.532 others(762): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAA GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG AAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAA TCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325049	A A	AGGAAGGA others(734): Show AGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGG GGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGG AGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	741	c.531 others(758): Show c.531+2151_531+2152insCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCT TCTCCCTCCTTCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325098	C C	CGCGGGGG others(734): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGG AAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAG GGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	150	0.0067	741	c.531 others(758): Show c.531+2102_531+2103insCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC CCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACT CCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965358	C C	CTTGGACC others(734): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTG GACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	190	0.0053	741	c.72+ others(758): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCC TCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384334	G G	GGGAGAGG others(734): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAAGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGTGAGGGAGAGGGAGGGAG AGGGAGAGGGGAGAGGGAGAGGGAGAGGAAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	322	0.0031	741	c.909 others(756): Show c.909+974_909+975insTCTCCCTCTCCCTTCCTCTCCCTCTCCCTC TCCCCTCTCCCTCTCCCTCCCTCTCCCTCACCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCC TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCCCTTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628358	G G	GGGGATGA others(734): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGTGAGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	352	0.0028	741	c.299 others(756): Show c.299-933_299-932insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCG CCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(734): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATAATACACATTATATATTATATATAATACACAT TATATATTATATATAATACACATTATATATTATATATAATACACATTATA TATTATATAATACACATTATATATTATATATAATACACATTATATATATA ATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	360	0.0028	741	c.62 others(752): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATTATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATTATATATAATATATAATACATATAATATGTATATTATATATATAATAT ATAATATATAATACATATAATATGTATATTATATATATAATATATAATAT ATAATACATATAATATGCATATTATATATAATATATTATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGTATATAATAGGTATATTATA TATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(734): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATAATACACATTATATATTATATATAATACACATTATATATATA ATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0138 a0001c0002t0006g0138	1	360	0.0028	741	c.62 others(752): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATTATATATAATATATAATACATATAATATGTATATTATATATATAATAT ATAATATATAATACATATAATATGTATATTATATATATAATATATAATAT ATAATACATATAATATGCATATTATATATAATATATTATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGTATATAATAGGTATATTATA TATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TNFRSF18_chr1_1198508_1211592	1202444	C C	CCAGTACC others(734): Show CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCTAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAG TACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG04115.hp2 HG01993.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0003 a0001c0001t0002g0020	2	386	0.0052	741	c.13 others(752): Show c.1399_*1400insCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGG GCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGG GCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGG AGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACT GGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCT GGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCT GGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTA CTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGA CTGGGTACTGGGCTCGGGGCTAGGTACTGGGCTCGGGGCTGGGTACTGGG CTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGG TACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGA GGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTG GGTACTG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1063		chr1	TogoVar
TNFRSF18_chr1_1198508_1211592	1202444	C C	CCAGTACC others(734): Show CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCTAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCTGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAG TACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0007 a0001c0005t0002g0007	1	386	0.0026	741	c.13 others(752): Show c.1399_*1400insCGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGT ACTGGGCTCGGGGATGGGTACTGGGCTGGAGGCTGGGTACTGGGCTTGGG GCTGGGTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGATGGGTACTGG GCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGG AGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACT GGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCAGGGCT GGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCT GGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTCGGGGATGGGTA CTGGGCTCGGGGATGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGA CTGGGTACTGGGCTCGGGGCTAGGTACTGGGCTCGGGGCTGGGTACTGGG CTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGG TACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGA GGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTG GGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTG GGTACTG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1063		chr1	TogoVar
TOP1MT_chr8_143304324_143339880	143321820	C C	CGCCACAC others(734): Show CGCCACACACACAGGCACGCCACACACACAGGCACGCCACACACGCACGC CACACACGCATGCCACACACGCACGCCACACGCATGCCACACACAGCCAC GCCACACACACACGCCACACACACACAGGCACGCCACACACGCACGCCAC ACACACGCATGCCACACACACGCCACACACACAGGCACGCCACACACACA GGCACGCCACACACACGCCACACACACGCACGCCACACACGCACGCCACA CACGCACGCCACACACATGCATGCCACATACGCCCGCCACACACGCACGC CACACAGGCACGCCACACAAGCACGCCACACACACGCACGCCACACACAC ACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGCCAGCC ACACACGCACGCACACACGCACGCCAGCCACACACGCACGCACACACGCA CGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAA TGCCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCA CGCCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCA CACACGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCAC GCCACACACACAGGCACACCACACACAGGCACGCCACACACACAGGCACG CCACACACATGCACGCCACACACACAGGCACGCCACACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0090 a0002c0032t0001g0090	1	430	0.0023	741	c.961 others(756): Show c.961-435_961-434insATGTGTGTGGCGTGCCTGTGTGTGTGGCGT GCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCC TGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGT GGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGC CTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGT GTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGC GTGCGTGTGGCGTGCGTGTGTGCGTGCGTGTGTGGCTGGCGTGCGTGTGT GCGTGCGTGTGTGGCTGGCGTGCGTGTGGCGTGCGTGTGTGGCGTGCGTT TGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCTTGTGTGG CGTGCCTGTGTGGCGTGCGTGTGTGGCGGGCGTATGTGGCATGCATGTGT GTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGGCGTGT GTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTG GCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCG TGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGGCGTGCGTGTGTGG CATGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCT GTGTGTGTGGC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM28_chr19_58539064_58555715	58539222	A A	ACCTGCTT others(734): Show ACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACAGAACCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTG CTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAG AACCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCC CTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTC ACACACACCCTGCTTCCCTCCTCAGACGGAATTCTCCCCCCACACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATT CTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACA CACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	741	c.-55 others(752): Show c.-5536_-5535insCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCT TCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAG ACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTT CTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCT CCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTTCTCAC ACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGC TTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGGAATTCT CCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCC TCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAG GATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCA CACACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4841		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58539222	A A	ACCTGCTT others(734): Show ACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACAGAACCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTG CTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAG AACCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCC CTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTC ACACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAGGATT CTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACA CACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(60): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02129.hp1 HG02257.hp1 HG02615.hp2 HG02970.hp2 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0006t0001 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0006g0003 a0001c0001t0011g0003 a0001c0001t0012g0008 a0001c0006t0001g0002 a0001c0008t0001g0002	63	402	0.1567	741	c.-55 others(752): Show c.-5536_-5535insCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCT TCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAG ACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTT CTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCT CCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTTCTCAC ACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGC TTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCA GACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCT CCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCC TCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAG GATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCA CACACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4841		chr19	TogoVar
TTLL10_chr1_1168880_1202936	1202444	C C	CCAGTACC others(734): Show CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCTAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAG TACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	382	0.0026	741	c.45 others(752): Show c.4597_*4598insCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTAC CTAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCC CAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCC CCGAGCG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4509		chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202444	C C	CCAGTACC others(734): Show CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCTAGCCCCGAGCCCA GTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCTGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTA CCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAG CCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAG CCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGTCTCCAGCCCAG TACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCCCAGTACCCATCCCCG AGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCCCCGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0220 a0001c0003t0004g0220	1	382	0.0026	741	c.45 others(752): Show c.4597_*4598insCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCC AGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCC AGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT CCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTAC CTAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTACCCAGCCCCGAGC CCAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCTGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCA GCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCA GTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCC GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACC CAGTCTCCAGCCCAGTACCCAGCCCCAAGCCCAGTACCCAGCCTCCAGCC CAGTACCCATCCCCGAGCCCAGTACCCATCCCCGAGCCCAGTACCCAGCC CCGAGCG	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		4509		chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(734): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	246	0.0041	741	c.-10 others(758): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(734): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACC AACCACACCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCA CCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTCCAT CTCTCCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCA CCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02717.hp2 others(1): Show HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1	a0002 a0020 a0002 a0020	a0002c0022 a0002c0054 a0020c0056 a0002c0022 a0002c0054 a0020c0056	a0002c0022t0059 a0002c0022t0093 a0002c0054t0101 others(1): Show a0002c0022t0059 a0002c0022t0093 a0002c0054t0101 a0020c0056t0130	a0002c0022t0059g0043 a0002c0022t0093g0069 a0002c0054t0101g0100 others(1): Show a0002c0022t0059g0043 a0002c0022t0093g0069 a0002c0054t0101g0100 a0020c0056t0130g0068	4	346	0.0116	741	c.181 others(762): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTG GAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GCTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTG TGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTG CGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGT TGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGG AGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(734): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATACACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTATATATATACGTATATATGTGTATATATACGTATATATATACA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACATATATACGTATATATATACG TATATATACATATATACGTATATATATACGTATATATACATATATACATG TATATATATATATACGTATATATACATATATACATGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATACACATATATA TACATGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	383	0.0026	741	c.-42 others(752): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATACAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTATATATATACGTATATATGTGTATATAT ACGTATATATATACACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACATATAT ACGTATATATATACGTATATATACATATATACGTATATATATACGTATAT ATACATATATACATGTATATATATATATACGTATATATACATATATACAT GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATACACATATATATACATGTATATATATGTGTATATATACATGTATAT ATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(734): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACTTGTATATATATACGTATATATA CACATATATACATGTATATATACGTATATATACACATATATACATGTATA TATATACGTATATATACACATATATACATGTATATATACATGTATATATA CACATATATACATGCGTATATATATACGTATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATGTATATATGTATATATACGTATATACATGTATATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA TACATGTATATATATGTGTGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0267 a0002c0002t0005g0267	1	383	0.0026	741	c.-42 others(752): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACTTGTATAT ATATACGTATATATACACATATATACATGTATATATACGTATATATACAC ATATATACATGTATATATATACGTATATATACACATATATACATGTATAT ATACATGTATATATACACATATATACATGCGTATATATATACGTATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATAC ATGTATATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATATACATGTATATATATGTGTGTATATATATACGTAT ATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZZEF1_chr17_3999445_4148030	4018987	G G	GTTTTTTT others(734): Show GTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTCT TGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGG AGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAG ATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATC AACAGGATCCCAAGACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAA AGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACTATCCGATTT CTCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCAT TGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGG GGTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0011 a0007c0006t0011	a0007c0006t0011g0207 a0007c0006t0011g0207	1	296	0.0034	741	c.750 others(758): Show c.7505+681_7505+682insGTCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAAC GGGCCAGGATGACAATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCG GGGAAAAGATTGAGAAATCGGATAGTTGCCGTGTCTGTGTAGAAAGAAGT AGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGT CTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAA AAAAAAAAAAAAA	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	46/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4018987	G G	GTTTTTTT others(734): Show GTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTCT TGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGG AGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAG ATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATC AACAGGATCCCAAGACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAA AGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACTATCCGATTT CTCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCAT TGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGG GGTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0004 a0005c0005t0006g0004	1	296	0.0034	741	c.750 others(758): Show c.7505+681_7505+682insGTCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAAC GGGCCAGGATGACAATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCG GGGAAAAGATTGAGAAATCGGATAGTTGCCGTGTCTGTGTAGAAAGAAGT AGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGT CTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAA AAAAAAAAAAAAA	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	46/54			chr17	TogoVar

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