Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DEAF1_chr11_639233_700222	664612	G G	GAGAGGAG others(303): Show GAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCA GCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTG AGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACAC TCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGAC AGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGA GAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGC TATTCACACCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	345	0.0029	310	c.150 others(329): Show c.1503+9923_1503+9924insGGGTGTGAATAGCTGAGCCAGGACTC AGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCT GAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCG GTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTC CTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665002	C C	CGTCACAC others(303): Show CGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGG AGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATT CACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCT GGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTC ACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCG TCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAG GAGGACAGGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02523.hp1 others(13): Show HG00597.hp1 HG02056.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp2 NA18747.hp2 NA18961.hp1 NA18978.hp1 NA19011.hp2 NA19055.hp2 NA19064.hp1 NA19079.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0042 a0001c0002t0001g0202 a0001c0002t0001g0205 others(13): Show a0001c0002t0001g0042 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0246 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0308 a0001c0002t0001g0311 a0002c0005t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0263 a0002c0005t0001g0264	16	345	0.0464	310	c.150 others(329): Show c.1503+9533_1503+9534insACCCTGTCCTCCTCCTCTCGGTGTGA ATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTC CTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGC CCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGAC CGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGG ACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAAT AGCTGAGCCAGGACTCAGAGTGACCGAGTGTGAC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(303): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGTGTCACACT CGGTCACTCTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01255.hp2 others(18): Show HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG02015.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp2 HG02738.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03516.hp1 HG03688.hp1 HG03834.hp2 HG04204.hp2 NA19043.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0002t0001 a0004c0012t0001 a0001c0001t0001 a0001c0002t0001 a0004c0012t0001	a0001c0001t0001g0253 a0001c0002t0001g0203 a0001c0002t0001g0204 others(18): Show a0001c0001t0001g0253 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0248 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0266 a0004c0012t0001g0270	21	345	0.0609	310	c.150 others(329): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(303): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTTGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGTGTCACACT CGGTCACTCTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	345	0.0029	310	c.150 others(329): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCAAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665096	G G	GCTATTCA others(303): Show GCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTG AGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACAC TCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGAC AGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGA GAGGAGGAGGACAGGGTGTCACACTCGGTCACTCTGAGTCCTGGCTCAGC TATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAG TCCTGGCTCAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19084.hp1 NA19091.hp1 NA18945.hp2 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0341 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0341	3	345	0.0087	310	c.150 others(329): Show c.1503+9439_1503+9440insTTGAGCCAGGACTCAGAGTGACCGAG TGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTC AGAGTGACCGAGTGTGACACCCTGTCCTCCTCCTCTCGGTGTGAATAGCT GAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCG GTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTC CTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DENND1A_chr9_123374658_123935126	123405916	C C	CTCCTGCC others(303): Show CTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAG GACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCT TTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCT CCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCA CACACTCCACT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02273.hp2 HG02602.hp1 others(9): Show HG01109.hp1 HG02273.hp2 HG02602.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0012 a0001c0003t0003 a0001c0001t0003 a0001c0001t0012 a0001c0003t0003	a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0053 others(9): Show a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0003g0058 a0001c0001t0003g0076 a0001c0001t0003g0124 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0012g0127 a0001c0003t0003g0150	12	162	0.0741	310	c.154 others(329): Show c.1543-2427_1543-2426insAGTGGAGTGTGTGCCTGCTTCCCTTC CCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAGGTGGAGTGTGTGC CTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAAG TGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGG GTGGGCAGGAAGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTG GAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTTCCCTTCCC TGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0115 a0001c0002t0002g0116	2	404	0.0050	310	c.510 others(325): Show c.510+619_510+620insGGCCACACCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0242 a0001c0001t0007g0242	1	404	0.0025	310	c.510 others(325): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(192): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0001c0013 a0001c0014 a0003c0007 a0005c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0021 a0001c0002t0028 a0001c0002t0030 a0001c0002t0034 a0001c0012t0001 a0001c0013t0002 a0001c0014t0001 a0003c0007t0001 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0004g0260 a0001c0001t0004g0294 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0318 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0017 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0107 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0183 a0001c0001t0005g0191 a0001c0001t0006g0002 a0001c0001t0006g0051 a0001c0001t0006g0082 a0001c0001t0006g0111 a0001c0001t0006g0150 a0001c0001t0007g0040 a0001c0001t0007g0241 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0288 a0001c0001t0007g0319 a0001c0001t0010g0056 a0001c0001t0010g0165 a0001c0001t0011g0199 a0001c0001t0013g0007 a0001c0001t0013g0026 a0001c0001t0013g0101 a0001c0001t0013g0130 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0015g0001 a0001c0001t0017g0037 a0001c0001t0017g0250 a0001c0001t0025g0001 a0001c0001t0026g0133 a0001c0001t0027g0161 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0085 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0169 a0001c0002t0002g0178 a0001c0002t0002g0192 a0001c0002t0002g0220 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0233 a0001c0002t0002g0240 a0001c0002t0003g0018 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0127 a0001c0002t0003g0152 a0001c0002t0003g0171 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0226 a0001c0002t0008g0295 a0001c0002t0008g0296 a0001c0002t0012g0255 a0001c0002t0012g0308 a0001c0002t0021g0005 a0001c0002t0028g0162 a0001c0002t0030g0018 a0001c0002t0034g0297 a0001c0012t0001g0232 a0001c0013t0002g0119 a0001c0014t0001g0219 a0003c0007t0001g0002 a0003c0007t0001g0121 a0003c0007t0001g0201 a0005c0011t0001g0234	195	404	0.4827	310	c.510 others(325): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATGCCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	2	404	0.0050	310	c.510 others(325): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATGCCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(303): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAG GCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCATACCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACGCCACACCACACCACGCCAC ACCACACCAGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	404	0.0025	310	c.510 others(325): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA CACCACGCCACACCACACCAGGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	323010	G G	GGCGAGAG others(303): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	88	0.0114	310	c.392 others(329): Show c.3924+3995_3924+3996insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGAC TGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACC CCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCCGGAGCCCCGCACCC CCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(303): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGACC GGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGA GAGACCGGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02027.hp1 HG01515.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0005 a0001c0012t0002 a0001c0001t0005 a0001c0012t0002	a0001c0001t0005g0024 a0001c0012t0002g0052 a0001c0001t0005g0024 a0001c0012t0002g0052	2	88	0.0227	310	c.392 others(329): Show c.3924+3686_3924+3687insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCA CCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAG CCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTC GCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCG CCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC CGGAGCCCCGCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418105	C C	CCACCTGC others(303): Show CCACCTGCACCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCT GTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCG ATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCT GTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCAC CTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTC GGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCC CTGTCCACCTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	88	0.0114	310	c.739 others(325): Show c.739+959_739+960insCAGGTGGACAGGGAGGCCTGTCCGAGCTCT GACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGG TGGACAGGGAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGG CCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCC CTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACA GGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGTGCAGGTGGACAGGGA GGCCTATCGAAGCCCTGACAGGTGCAGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCACAC others(303): Show CCCCACACACACACACACCCCCCCACACACACACCCCCCCCCACACACAC ACACACCCCCACACACACACCCCCCCCACACACACACCCCCCCCCCCACA CACACACCCCCCCCCCACACACACACACACACCCCCACACACACACCCCC CCCCACACACACACCCCCCCCCCACACACACACCCCCCCCACACACACAC ACATCCCCCCCCACACACACACACATCCCCCCCACACACACACACATCCC CCCCCACACACACACACATCCCCCCCCACACACACACACATCCCCCCCCA CACACACACAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	310	c.85+ others(327): Show c.85+80938_85+80939insATGTGTGTGTGTGGGGGGGGATGTGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGT GGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGG GTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGG GGTGTGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGGGTGT GTGTGTGGGGGGGGTGTGTGTGTGGGGGTGTGTGTGTGTGTGGGGGGGGG TGTGTGTGTGGGGGGGTGTGTGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1643923	C C	CCCCGCCG others(303): Show CCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCC GGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACC CTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGTCCTC ACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAAC CCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCCAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	310	c.181 others(331): Show c.1810+10885_1810+10886insTCCTCACCTGTGTCACCCTCGACC CCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTG TCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCT GGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCAC CTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31452239	T T	TAGCAGGC others(303): Show TAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTG GTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	126	0.0079	310	c.893 others(329): Show c.8938-7613_8938-7612insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTGCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33010062	A A	ATGTACAC others(303): Show ATGTACACATGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGCATGT GTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGCAT GTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGCGC ATGTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGTGC GCATGTGTATGTACACACGTGTGTGCGCATGTGTATGTACACACGTGTGC GCGCATGTGTATGTACACACGTGTGCGCGCATGTGTATGTACACACGTGT GCGCGCATGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	126	0.0079	310	c.93+ others(327): Show c.93+10076_93+10077insCACATGCGCGCACACGTGTGTACATACA CATGCGCGCACACGTGTGTACATACACATGCGCGCACACGTGTGTACATA CACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTGTACA TACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTGTA CATACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTGTG TACATACACATGCGCACACACGTGTGTACATACACATGCGCACACACGTG TGTACATACACATGCGCACACACATGTGTACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(303): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGCGGATCACGAGGTCAAGAGATCGAGACCATCCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0334 a0001c0003t0026g0334	1	362	0.0028	310	c.287 others(329): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGGATGGTCTCGATC TCTTGACCTCGTGATCCGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(303): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0039 a0001c0003t0012g0039	1	362	0.0028	310	c.287 others(329): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAH8_chr6_38710311_39035792	38843176	T T	TAAAAAAA others(303): Show TAAAAAAAATTTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp2	a0023 a0043 a0066 a0023 a0043 a0066	a0023c0039 a0043c0077 a0066c0061 a0023c0039 a0043c0077 a0066c0061	a0023c0039t0001 a0043c0077t0001 a0066c0061t0001 a0023c0039t0001 a0043c0077t0001 a0066c0061t0001	a0023c0039t0001g0244 a0023c0039t0001g0247 a0043c0077t0001g0254 others(1): Show a0023c0039t0001g0244 a0023c0039t0001g0247 a0043c0077t0001g0254 a0066c0061t0001g0145	4	284	0.0141	310	c.484 others(327): Show c.4845+287_4845+288insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAATTTGTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	35/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPH6_chr15_35365880_35551165	35457361	T T	TCAATAAT others(303): Show TCAATAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	228	0.0044	310	c.313 others(327): Show c.313-2542_313-2541insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATTATTG	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP6_chr7_154047398_154899285	154749501	A A	AGGCTTTA others(303): Show AGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGAGGGAT GGCGGCTTTACTGAGAGAGTGTGAGGGAGCATAGGATGGGAGAGAGAGGG ATGGAGGCTTTACTGAGAGAGGGTGAGAGCATAGGACGAGAGAGAGAGGG ATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGAG GGATGGCGGCTTTACTGAGAGAGGGTGAGAGAGCATAGGACGGGAGAGAG AGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGG AGAGGGATGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp2 NA18747.hp2 HG00558.hp2 HG02129.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0024 a0002c0002 a0001c0001 a0001c0024 a0002c0002	a0001c0001t0016 a0001c0024t0028 a0002c0002t0029 a0001c0001t0016 a0001c0024t0028 a0002c0002t0029	a0001c0001t0016g0005 a0001c0024t0028g0003 a0002c0002t0029g0002 a0001c0001t0016g0005 a0001c0024t0028g0003 a0002c0002t0029g0002	3	38	0.0790	310	c.884 others(329): Show c.884-19894_884-19893insGGAGCATAGGACAGGAGGGAGAGGGA TGGCGGCTTTACTGAGAGAGTGTGAGGGAGCATAGGATGGGAGAGAGAGG GATGGAGGCTTTACTGAGAGAGGGTGAGAGCATAGGACGAGAGAGAGAGG GATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGGGAGA GGGATGGCGGCTTTACTGAGAGAGGGTGAGAGAGCATAGGACGGGAGAGA GAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACAGGAGG GAGAGGGATGGCGGCTTTACTGAGAGAGGGTGAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(303): Show ATATATATAGTATATATATAGTATATATATATACTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTGTATATATAGTATATATATAGTATATATATAGTATATATATATAGTG TATATATATAGTATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATGTATATATATATAGTATATATAT ACTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0018 a0001c0017t0018	a0001c0017t0018g0144 a0001c0017t0018g0144	1	316	0.0032	310	c.355 others(329): Show c.355-25607_355-25606insGTATATATATAGTATATATATATACT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTGTATATATAGTATATATATAGTATATATATAG TATATATATATAGTGTATATATATAGTATATATATAGTGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATGTATATAT ATATAGTATATATATACTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTHD1_chr4_36276616_36352511	36323570	T T	TGCTAGGT others(303): Show TGCTAGGTATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0013 a0019c0045t0013	a0019c0045t0013g0282 a0019c0045t0013g0282	1	308	0.0033	310	c.234 others(329): Show c.2340+7097_2340+7098insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCTAGGTATTTTA	DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02572.hp2 others(3): Show HG02055.hp2 HG02109.hp2 HG02572.hp2 HG02897.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0164 a0001c0001t0004g0165 others(1): Show a0001c0001t0004g0010 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166	6	314	0.0191	310	c.-14 others(321): Show c.-1489_-1488insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44889536	T T	TAAAACAA others(303): Show TAAAACAAAAAAAAATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18969.hp1 NA18971.hp2 others(2): Show NA18944.hp2 NA18969.hp1 NA18971.hp2 NA18989.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132	5	322	0.0155	310	c.657 others(327): Show c.657-7798_657-7797insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCAATTTTTTTTTGTTTT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	6/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(303): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01168.hp2 others(4): Show HG00642.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp2 HG01517.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0077 a0001c0001t0001g0010 a0001c0001t0001g0077	7	428	0.0164	310	c.83+ others(323): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0073 a0001c0002t0002g0047 a0001c0002t0002g0073	2	222	0.0090	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAT AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0100 a0001c0002t0002g0039 a0001c0002t0002g0100	2	222	0.0090	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02451.hp2 others(2): Show HG01884.hp1 HG02451.hp1 HG02451.hp2 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0028 others(2): Show a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0164 a0001c0002t0002g0172	5	222	0.0225	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0221 a0001c0002t0002g0012 a0001c0002t0002g0221	2	222	0.0090	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAT AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02257.hp2 others(12): Show HG00735.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 NA18522.hp1 NA20129.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0015	a0001c0002 a0003c0004 a0003c0010 others(2): Show a0001c0002 a0003c0004 a0003c0010 a0009c0023 a0015c0013	a0001c0002t0002 a0001c0002t0010 a0003c0004t0002 others(4): Show a0001c0002t0002 a0001c0002t0010 a0003c0004t0002 a0003c0004t0005 a0003c0010t0007 a0009c0023t0005 a0015c0013t0001	a0001c0002t0002g0040 a0001c0002t0002g0056 a0001c0002t0002g0059 others(12): Show a0001c0002t0002g0040 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0010g0031 a0003c0004t0002g0007 a0003c0004t0002g0098 a0003c0004t0002g0150 a0003c0004t0002g0173 a0003c0004t0005g0005 a0003c0004t0005g0062 a0003c0004t0005g0107 a0003c0010t0007g0074 a0003c0010t0007g0187 a0009c0023t0005g0014 a0015c0013t0001g0125	15	222	0.0676	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5411652	T T	TGTGATTA others(303): Show TGTGATTAATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	222	0.0045	310	c.206 others(329): Show c.2068-1034_2068-1033insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATATTAATCAC	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	13/22			chr18	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(303): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18747.hp2 NA18948.hp1 others(3): Show HG02071.hp2 NA18747.hp2 NA18948.hp1 NA18995.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0144 a0001c0001t0002g0170 a0001c0001t0002g0173 others(3): Show a0001c0001t0002g0144 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0003t0002g0155	6	312	0.0192	310	c.231 others(329): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA6_chr3_96809594_97766532	96934845	T T	TAGAAAAA others(303): Show TAGAAAAAACATCCTTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAA ACCCCGTCTCTACTAAAAAGTACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03195.hp2 HG03579.hp2 HG00735.hp1 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0026 a0001c0002t0001 a0001c0002t0024 a0001c0002t0026	a0001c0002t0001g0030 a0001c0002t0024g0031 a0001c0002t0026g0032 a0001c0002t0001g0030 a0001c0002t0024g0031 a0001c0002t0026g0032	3	82	0.0366	310	c.451 others(329): Show c.451-52470_451-52469insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAAGTACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAAACATCCTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX1_chr1_225805124_225850563	225808718	T T	TAAGAGTA others(303): Show TAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp2 others(88): Show HG00099.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19012.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0018 a0001c0022 a0001c0028 a0001c0029 a0001c0035 a0001c0046 a0001c0047 a0002c0002 a0002c0006 a0002c0013 a0002c0025 a0002c0030 a0003c0005 a0003c0007 a0004c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0015t0001 a0001c0018t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0035t0001 a0001c0046t0001 a0001c0047t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0013t0001 a0002c0025t0001 a0002c0030t0001 a0003c0005t0001 a0003c0007t0001 a0004c0041t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0377 a0001c0001t0001g0379 a0001c0001t0001g0393 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0002g0307 a0001c0001t0002g0380 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0003t0001g0287 a0001c0003t0001g0294 a0001c0003t0001g0323 a0001c0003t0001g0336 a0001c0004t0001g0321 a0001c0004t0001g0322 a0001c0004t0001g0327 a0001c0004t0001g0383 a0001c0011t0001g0316 a0001c0015t0001g0016 a0001c0015t0001g0286 a0001c0015t0001g0303 a0001c0018t0001g0382 a0001c0018t0001g0386 a0001c0018t0001g0390 a0001c0018t0001g0396 a0001c0022t0001g0004 a0001c0028t0002g0329 a0001c0028t0002g0330 a0001c0029t0001g0335 a0001c0035t0001g0326 a0001c0046t0001g0305 a0001c0047t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0375 a0002c0002t0001g0387 a0002c0002t0002g0374 a0002c0002t0002g0378 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0002g0391 a0002c0002t0002g0392 a0002c0002t0002g0395 a0002c0006t0001g0003 a0002c0006t0001g0282 a0002c0006t0001g0328 a0002c0006t0001g0334 a0002c0006t0001g0365 a0002c0006t0001g0376 a0002c0013t0001g0318 a0002c0025t0001g0324 a0002c0030t0001g0397 a0003c0005t0001g0293 a0003c0005t0001g0295 a0003c0005t0001g0300 a0003c0005t0001g0381 a0003c0007t0001g0302 a0004c0041t0001g0298	91	422	0.2156	310	c.-14 others(321): Show c.-1457_-1456insAAGAGTAACGAATGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAA	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding		1405		chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA AAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0351 a0001c0001t0019g0351	1	352	0.0028	310	c.31 others(321): Show c.3116_*3117insTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		1010		chr13	TogoVar
EVC2_chr4_5557439_5713559	5706429	C C	CATAGATA others(303): Show CATAGATACATACATAGATAGATAGATAGATACATACATACATACATACA TAGATACATAGATAGATAGATACATAGATACATAGATACATAGATAGATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATACATACATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATACATAGATAGATAGACACA TAGATAGATACATAGATAGATAGATAGATACATATAGATAGATAGATAGA TACATAGATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0085 a0003c0085	a0003c0085t0005 a0003c0085t0005	a0003c0085t0005g0291 a0003c0085t0005g0291	1	292	0.0034	310	c.228 others(327): Show c.228+1856_228+1857insCTATCTATGTATCTATCTATCTATCTAT ATGTATCTATCTATCTATCTATGTATCTATCTATGTGTCTATCTATCTAT GTATCTATCTATCTATGTATCTATGTATCTATCTATCTATGTATCTATCT ATCTATGTATGTATCTATGTATCTATCTATCTATCTATCTATGTATCTAT CTATCTATGTATCTATGTATGTATGTATGTATGTATCTATCTATGTATCT ATGTATCTATGTATCTATCTATCTATGTATCTATGTATGTATGTATGTAT GTATCTATCTATCTATCTATGTATGTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706429	C C	CATAGATA others(303): Show CATAGATACATACATAGATAGATAGATAGATACATACATACATACATACA TAGATACATAGATAGATAGATACATAGATACATAGATACATAGATAGATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATACATACATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATACATAGATAGATAGACACA TAGATAGATACATAGATAGATAGATAGATACATATAGATAGATAGATAGA TACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0027 a0006c0012t0027	a0006c0012t0027g0065 a0006c0012t0027g0065	1	369	0.0027	310	c.-49 others(321): Show c.-4952_-4951insATAGATACATACATAGATAGATAGATAGATACAT ACATACATACATACATAGATACATAGATAGATAGATACATAGATACATAG ATACATAGATAGATACATACATACATACATACATAGATACATAGATAGAT AGATACATAGATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATACAT AGATAGATAGACACATAGATAGATACATAGATAGATAGATAGATACATAT AGATAGATAGATAGATACATAGATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4771		chr4	TogoVar
EVI5_chr1_92503696_92790108	92598952	C C	CAGTAGAT others(303): Show CAGTAGATGATAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGTGCGCCA CCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGC CTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0136 a0001c0001t0041g0136	1	168	0.0060	310	c.207 others(329): Show c.2070+6354_2070+6355insCACTTTGGGAGGCCGAGACGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCACGCCTGTA GTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAATTATCATCTACT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19			chr1	TogoVar
EXD3_chr9_137301896_137428162	137328610	G G	GACTACGC others(303): Show GACTACGCGGGGCTACGCGGGGCTACGCGGGGCTACGCGGGACTACACGG GAGCTACACGGGAGCTACACGGGAGCTACGCGGGACTACACGGGACTACA CGGGAGCTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTAC GCGGGACTACACGGGAGCTACACGGGAGCTACACGGGAGCTACGCGGGAC TACGCGGGACTACGCGGGACTACGCGGGACTACACGGGACTACACGGGAG CTACACGGGACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGGA GCTACGCGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0066 a0005c0005t0001g0066	1	82	0.0122	310	c.199 others(329): Show c.1999-4468_1999-4467insTCCCGCGTAGCTCCCGCGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCCGTGTAGTCCC GTGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGCTCC CGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCGCGTAGTCCCGCGTAGT CCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAG TCCCGCGTAGCTCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGTCCCGCG TAGCCCCGCGTAGCCCCGCGTAGCCCCGCGTAGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXT1_chr8_117789490_118116826	117997304	T T	TATATATA others(303): Show TATATATATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	190	0.0053	310	c.962 others(331): Show c.962+112780_962+112781insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAATTATATATAT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28055471	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0029 a0001c0001t0016g0030 a0001c0001t0016g0029 a0001c0001t0016g0030	2	392	0.0051	310	c.33+ others(325): Show c.33+2522_33+2523insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	2/17			chr1	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(303): Show TCCCTAATAATTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 NA19043.hp2 others(1): Show HG02280.hp2 HG02630.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0086 others(1): Show a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0086 a0001c0001t0016g0027	4	190	0.0211	310	c.187 others(329): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGAGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	289	0.0035	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGAGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	289	0.0035	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398670	G G	GAAGGTAG others(303): Show GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAAC TACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00642.hp2 others(62): Show HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18968.hp1 NA19043.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0006 a0001c0015 others(1): Show a0001c0001 a0001c0006 a0001c0015 a0010c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0006t0001 a0001c0015t0001 a0010c0013t0001	a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0227 others(62): Show a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0005g0171 a0001c0001t0005g0202 a0001c0001t0005g0205 a0001c0001t0005g0208 a0001c0001t0005g0213 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0005g0225 a0001c0001t0005g0249 a0001c0001t0005g0263 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0209 a0001c0001t0006g0216 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0256 a0001c0001t0014g0226 a0001c0001t0020g0206 a0001c0001t0025g0187 a0001c0001t0026g0223 a0001c0001t0027g0210 a0001c0006t0001g0253 a0001c0006t0001g0254 a0001c0006t0001g0255 a0001c0015t0001g0252 a0010c0013t0001g0237	65	289	0.2249	310	c.269 others(329): Show c.2692+3127_2692+3128insAGAAAGGTAGAACTACGTCATAAGCC TTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTA GAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACCATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0039 a0001c0002t0013g0040 a0001c0002t0013g0039 a0001c0002t0013g0040	2	289	0.0069	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACCATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01243.hp1 others(9): Show HG00323.hp2 HG00639.hp2 HG01243.hp1 HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02970.hp2 HG03471.hp2 HG03710.hp1 HG06807.hp2 NA18959.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001 a0001c0018t0006	a0001c0001t0001g0011 a0001c0001t0001g0234 a0001c0001t0001g0239 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0277 a0001c0001t0005g0214 a0001c0001t0006g0201 a0001c0001t0014g0212 a0001c0002t0001g0032 a0001c0018t0006g0215	12	289	0.0415	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

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