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
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCACAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0013 a0001c0041t0013	a0001c0041t0013g0096 a0001c0041t0013g0096	1	378	0.0027	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CACAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(101): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18999.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0009 a0013 a0014	a0001c0001 a0001c0003 a0001c0008 others(10): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0001c0016 a0001c0028 a0003c0005 a0003c0009 a0003c0012 a0008c0025 a0009c0026 a0013c0027 a0014c0034	a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 others(14): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0014 a0001c0008t0001 a0001c0013t0001 a0001c0016t0001 a0001c0028t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0008c0025t0001 a0009c0026t0001 a0013c0027t0001 a0014c0034t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 others(100): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0003t0001g0003 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0340 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0002g0100 a0001c0003t0010g0044 a0001c0003t0014g0059 a0001c0008t0001g0010 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0203 a0001c0008t0001g0204 a0001c0008t0001g0205 a0001c0013t0001g0091 a0001c0013t0001g0092 a0001c0016t0001g0057 a0001c0016t0001g0058 a0001c0028t0001g0202 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0008c0025t0001g0065 a0009c0026t0001g0060 a0013c0027t0001g0037 a0014c0034t0002g0122	104	378	0.2751	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687332	G G	GCCAGTTC others(513): Show GCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC TCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAC TGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGC AGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC GCCAGTTCACTGGTGGGCCTGCACTGCAGCAGTTGGCTTCGTCAGTTCAC TGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCT GCACCGCAGCAGTTGGCTTCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	378	0.0027	520	c.314 others(537): Show c.314+7096_314+7097insGAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCA GTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGT GGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTT GGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCA GTTCACTGGTGGGCCTGCACTGCAGCAGTTGGCTTCGTCAGTTCACTGGT GGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCAC CGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79687518	G G	GAGCAGTT others(513): Show GAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGG CTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGT TCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGG GCCTGCACCGCAGCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCG GAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGG CTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGT TCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGG GCCTGCACCGCAGCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCG CAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGG CTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGT TCACTGGTGGGCCTGCACCGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04204.hp1 HG03942.hp1 HG04204.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0363 a0001c0007t0003g0364 a0001c0007t0003g0363 a0001c0007t0003g0364	2	378	0.0053	520	c.314 others(537): Show c.314+7390_314+7391insTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGACTTCGCCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGC CTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCACCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	C C	CGAGGAGA others(513): Show CGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGCAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0001 a0003c0003t0019g0001	1	386	0.0026	520	c.199 others(537): Show c.199-1941_199-1940insACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC CCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTGC CCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1164098	A A	AGATTTTT others(513): Show AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACA GATTTTTCTGTGAGCCCCCCCAGGGCCTGTCATTTTGGTTTGTGGGGACA GATTTTTCTGTGAGCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTG ATTGTGAGCCCCCCAGGGTTTGTTTTCGTTTGTGGGGACAGATTTTTCTG TGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCC CCCCACGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAG GGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGG CCCGTCGTTTTGGTTTGTGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	520	c.74- others(537): Show c.74-94736_74-94735insCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGG GACAGATTTTTCTGTGAGCCCCCCCAGGGCCTGTCATTTTGGTTTGTGGG GACAGATTTTTCTGTGAGCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGG ACTGATTGTGAGCCCCCCAGGGTTTGTTTTCGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTG AGCCCCCCACGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCC CCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCC AGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(513): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCT CTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGG AGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGC CCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0219 a0001c0001t0011g0219	1	374	0.0027	520	c.13 others(531): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGC TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGG TGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGG TGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGGAGGGTGGGC AGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3218152	T T	TTTCACAG others(513): Show TTTCACAGTGAGTCAGGTGGACACCCAACACGGCCCTGATACGCTCTAGA GCTTTCACAGTGAGTCAGGTGCACACTCAACACGACCCTGATACGCTCTA GAGCGTTCACAGTGACCCAGGTGCACACCCAACACGGCCCTGATACACTC TAGAGCTTTCACAGTGAGTCAGGTGCACACCCAACACGGCCCTGATACAC TCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCAACATGGCCCTGATAC GCTCTAGAGCATTCACAGTGAGTCAGGTGCACACCCAACACGGCCCCGAT ACGCTCTAGAGCATTCACAGTGAGTCAGGTGCACACCCAGCAGGGCCCTG GTATACTCTAGAGCATTCACAGTGAGTCAGGTGCACACTCAACACGACCC TGGTATACTCTAGAGCTTTCACAGTGAGTCAGGTGGACACCCAACACGGC CCTGATACGCTCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCACCATG GCCCTGATACACTCTAGAGCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	250	0.0040	520	c.417 others(537): Show c.417-3905_417-3904insTGCTCTAGAGTGTATCAGGGCCATGGTG GGTGTGCACCTGACTCACTGTGAAAGCTCTAGAGCGTATCAGGGCCGTGT TGGGTGTCCACCTGACTCACTGTGAAAGCTCTAGAGTATACCAGGGTCGT GTTGAGTGTGCACCTGACTCACTGTGAATGCTCTAGAGTATACCAGGGCC CTGCTGGGTGTGCACCTGACTCACTGTGAATGCTCTAGAGCGTATCGGGG CCGTGTTGGGTGTGCACCTGACTCACTGTGAATGCTCTAGAGCGTATCAG GGCCATGTTGGGTGTGCACCTGACTCACTGTGAAAGCTCTAGAGTGTATC AGGGCCGTGTTGGGTGTGCACCTGACTCACTGTGAAAGCTCTAGAGTGTA TCAGGGCCGTGTTGGGTGTGCACCTGGGTCACTGTGAACGCTCTAGAGCG TATCAGGGTCGTGTTGAGTGTGCACCTGACTCACTGTGAAAGCTCTAGAG CGTATCAGGGCCGTGTTGGGTGTCCACCTGACTCACTGTGAA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329301	T T	TACACGGG others(513): Show TACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACAGGGGAC TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGAC TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGACTACACAGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGAC TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	82	0.0122	520	c.199 others(539): Show c.1999-5159_1999-5158insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCC CTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(513): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATATATTTATATACATATAATACATATACATATATACATATAAAT ATATATTTATATACATATAAATATATATATTTATATATATAAATATATAT ATTTATATATATATAAATATATATATATTTATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATACATATAAATATATAT ATTTATATACATATAAATATATAATTATATACATATAAATATATATAATT ATATACATATAAATATATATTTATATACATATAAATATATATATTTATAT ACATATAAATTTATATACATATAAATATATATATTTATATTTATATACAT ATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0274 a0005c0007t0001g0274	1	292	0.0034	520	c.49 others(531): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAATTATATATATT TATATGTATATAATTATATATTTATATGTATATAAATATATATATTTATA TGTATATATAAATATATATATATTTATATATATATAAATATATATATTTA TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAA ATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATAT ATTTATATGTATATAATATACATACATATATATTATATACATATATATTT ATATGTATATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FTCD_chr21_46131779_46160579	46145733	C C	CCGTGCCC others(513): Show CCGTGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG CGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCC CCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCC GCCCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAA CTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCC CCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGC GCCCTCCCCCCCAACAGCGCCCTCCCCCCAACTGTGCCCTCCCCTTCCCC CTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCCCGCGCTCCCCCC AACAGCGCCCTCCCCCCAACAGCACCCTCCCCCCAACAGCGCCCTCCCCC CAACAGCGCCCTCCCCCAACAGTGCCCTTCCCCCTCCCCCGCCCTCCCCC AACAGCGCCCTCCCCCCAACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	230	0.0044	520	c.109 others(535): Show c.1098+84_1098+85insTGTTGGGGGGAGGGCGCTGTTGGGGGAGGG CGGGGGAGGGGGAAGGGCACTGTTGGGGGAGGGCGCTGTTGGGGGGAGGG CGCTGTTGGGGGGAGGGTGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGC GCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGG GAGGGCACAGTTGGGGGGAGGGCGCTGTTGGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGG GGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGAGGGCACG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(513): Show TGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCCAACAGCG CCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCC CAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGC CCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCAACAACTG CGCCCTCCCCTTCCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCC CAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCCAACAGCG CCCTCCCCCCAACAGCGCCCTCCCCCCAACTGTGCCCTCCCCTTCCCCCT CCCCGCCCTCCCCCAACAGCGCCTTCCCCCCACCCCGCGCTCCCCCCCAA CAGCGCCCTCCCCCCAACAGCACCCTCCCCCCAACAGCGCCCTCCCCCCA ACAGCGCCCTCCCCCAACAGTGCCTTCCCCCCCTCCCCGCCCTCCCCCAA CAGCGCCCTCCCCCCAACAGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	230	0.0044	520	c.109 others(535): Show c.1098+82_1098+83insGCTGTTGGGGGGAGGGCGCTGTTGGGGGAG GGCGGGGAGGGGGGGAAGGCACTGTTGGGGGAGGGCGCTGTTGGGGGGAG GGCGCTGTTGGGGGGAGGGTGCTGTTGGGGGGAGGGCGCTGTTGGGGGGG AGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGAGGGCGGGGAGGGGGAAG GGGAGGGCACAGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGG GGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGGAAGGGGAGGGCGCAGTTGTTG GGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGG GGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGG CGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGG GGGGGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GET4_chr7_871554_901436	889802	A A	AGAGCGGG others(513): Show AGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTG TCAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	384	0.0026	520	c.467 others(537): Show c.467-1106_467-1105insCCTGGGAGTGGAGGGAGCGAGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889802	A A	AGAGCGGG others(513): Show AGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTG TCAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	384	0.0026	520	c.467 others(537): Show c.467-1106_467-1105insCCTGGGAGTGGAGGGAGCGAGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889813	T T	TAGGACGG others(513): Show TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	384	0.0026	520	c.467 others(537): Show c.467-1076_467-1075insCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889973	C C	CAGGACGG others(513): Show CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	384	0.0026	520	c.467 others(535): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(513): Show TATATATAAATATATAAATATACATTTATATATAAATATATATAAATATA CATTTATATATAAATATATATAAATATACATTTATATATAAATATATATA AATATACATTTATATATAAATATATATAAATATACATTTATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCACATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0000 a0000	a0000c0015 a0000c0015	a0000c0015t0002 a0000c0015t0002	a0000c0015t0002g0164 a0000c0015t0002g0164	1	208	0.0048	520	c.-97 others(537): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATATAAATATACATTTATATATAAATATATATAAATATACATTTA TATATAAATATATATAAATATACATTTATATATAAATATATATAAATATA CATTTATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0036 a0001c0001t0033g0037 a0001c0001t0004g0036 a0001c0001t0033g0037	2	328	0.0061	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0251 a0001c0001t0054g0251	1	328	0.0031	520	c.283 others(537): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGT GGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCTATCCATTTATCCATCGATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0189 a0001c0001t0015g0189	1	328	0.0031	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCATCCATCCATCTATCCATTTATCCATCGATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01934.hp2 others(6): Show HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp2 HG03688.hp1 HG03927.hp1 HG04204.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0046 a0001c0001t0001 a0001c0002t0004 a0001c0002t0046	a0001c0001t0001g0098 a0001c0002t0004g0002 a0001c0002t0004g0086 others(5): Show a0001c0001t0001g0098 a0001c0002t0004g0002 a0001c0002t0004g0086 a0001c0002t0004g0090 a0001c0002t0004g0099 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0046g0089	9	328	0.0274	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0097 a0001c0002t0004g0097	1	328	0.0031	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	328	0.0031	520	c.283 others(537): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0033	1	328	0.0031	520	c.283 others(537): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	328	0.0031	520	c.283 others(537): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCGATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0190 a0001c0001t0015g0190	1	328	0.0031	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCC ATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCATCCATCCATCTATCCATTTATCCATCGATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(513): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0183 a0001c0001t0011g0183	1	328	0.0031	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGT GGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(513): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCAT TTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0049 a0001c0001t0009g0049	1	328	0.0031	520	c.283 others(537): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643167	C C	CCATCCAT others(513): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATCCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	328	0.0031	520	c.283 others(537): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATCCATCCATGCATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(513): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0249 a0007c0007t0002g0249	1	268	0.0037	520	c.-28 others(531): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IL3RA_chrX_1331785_1387689	1361016	C C	CCTCTGTC others(513): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTT CCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCC CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTC TCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCC CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	115	0.0087	520	c.759 others(537): Show c.759+2157_759+2158insCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCT CCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361040	T T	TCTCTGTC others(513): Show TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCTTCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTC CCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCCTC TCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	115	0.0087	520	c.759 others(537): Show c.759+2268_759+2269insCCCCTCTGTCTCTCTCTCCCTTCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCTTCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTC CCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(513): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCG GGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0119 a0001c0001t0031g0119	1	375	0.0027	520	c.317 others(537): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KSR2_chr12_117448012_117973990	117606501	C C	CCTCCTTC others(513): Show CCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCT CCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCC CCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCT CCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCCTCC CCTCCTTCCTCCCTCCCTCCTCTCCTTCCTCCCTCCCTCCTCTCCTTCCT CCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCC CCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCT TCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTCCCTCCCTCC TCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCT TCCTCCATCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCC CCTCCTTCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0132 a0001c0002t0132	a0001c0002t0132g0095 a0001c0002t0132g0095	1	196	0.0051	520	c.117 others(541): Show c.1172-24143_1172-24142insAGGAGGGAGGGAGGAAGGAGGGGA GGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGATGGAGGAAGG AAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGAGGA GGGAGGGAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGAAGG AAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGA TGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGG AAGGAGAGGAGGGAGGGAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGA GGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGG AAGGAGGGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGA GGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGAGGGAGGGAGG AAGGAGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LHPP_chr10_124456823_124619141	124506731	G G	GAGGATTT others(513): Show GAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGA GGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGG ATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGACAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	260	0.0039	520	c.624 others(537): Show c.624+8615_624+8616insCGGGGGGTAGACAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGC GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGG GTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG TAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953937	G G	GTCCACAC others(513): Show GTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCGTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCCAAACCAGCCTCCTACATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0052 a0001c0008t0001g0052	1	294	0.0034	520	c.503 others(535): Show c.503+419_503+420insTATGTAGGAGGCTGGTTTGGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAC GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTG GACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283498	T T	TACTTACT others(513): Show TACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTAC ATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACT ACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTA CTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACT TACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTA CTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACT TACTTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19066.hp1 NA18945.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0003 a0002c0003t0003 a0001c0004t0003 a0002c0003t0003	a0001c0004t0003g0216 a0002c0003t0003g0069 a0001c0004t0003g0216 a0002c0003t0003g0069	2	296	0.0068	520	c.368 others(537): Show c.368-2784_368-2783insGGCCCGGGTATGTAGTAAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283498	T T	TACTTACT others(513): Show TACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGC CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCTGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTAC ATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACT ACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTA CTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACT TACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTA CTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACT TACTTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0111 a0002c0003t0003g0111	1	296	0.0034	520	c.368 others(537): Show c.368-2784_368-2783insGGCCCGGGTATGTAGTAAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCAGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283522	C C	CACTTACT others(513): Show CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTA CTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACT ACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTA CTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACT TACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTA CTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACT TACTTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01975.hp1 others(8): Show HG00741.hp1 HG01255.hp1 HG01975.hp1 HG02071.hp2 HG02132.hp1 NA18612.hp1 NA18946.hp1 NA18960.hp1 NA18971.hp2 NA19003.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0003 a0001c0004t0019 a0001c0004t0022 others(2): Show a0001c0004t0003 a0001c0004t0019 a0001c0004t0022 a0002c0003t0003 a0002c0003t0022	a0001c0004t0003g0214 a0001c0004t0003g0215 a0001c0004t0019g0019 others(7): Show a0001c0004t0003g0214 a0001c0004t0003g0215 a0001c0004t0019g0019 a0001c0004t0022g0154 a0002c0003t0003g0001 a0002c0003t0003g0057 a0002c0003t0003g0061 a0002c0003t0003g0068 a0002c0003t0003g0087 a0002c0003t0022g0086	11	296	0.0372	520	c.368 others(537): Show c.368-2808_368-2807insGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGT AAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(513): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTT ACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	290	0.0035	520	c.129 others(537): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACT TACACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACA CTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACC CACACTTACACCCACACTTACATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(513): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATAGATTCA TATATAGATTCATATATAGATTCATATATAGATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	191	0.0052	520	c.343 others(537): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATCTATATATGAATCTATATATGAATCTATATATGAATCT ATATATGAATCTATATATGAATATATATATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(513): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0152 a0001c0001t0036g0152	1	191	0.0052	520	c.343 others(537): Show c.343-4372_343-4371insGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATATATATGAATCTATATATGAATAT ATATATGAATCTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314943	T T	TTGAGACA others(513): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01981.hp1 others(6): Show HG01071.hp2 HG01167.hp2 HG01981.hp1 HG02055.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG03492.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0005 others(1): Show a0001c0001 a0003c0003 a0007c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0003c0003t0003 a0007c0005t0001 a0008c0008t0001	a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0002g0023 others(6): Show a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0002g0023 a0001c0001t0002g0111 a0001c0001t0024g0167 a0003c0003t0003g0061 a0003c0003t0003g0098 a0007c0005t0001g0160 a0008c0008t0001g0162	9	176	0.0511	520	c.753 others(537): Show c.753+3124_753+3125insCAAACAAACAAACAAACAAACAAACAAA AAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTAC TGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGC TTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCT TTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAA AGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCT GACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGA CATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACC ATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314948	T T	TGAGACAG others(513): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	176	0.0057	520	c.753 others(537): Show c.753+3119_753+3120insCAAAACAAACAAACAAACAAACAAACAA AAAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTA CTGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAG CTTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTC TTTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAA AAGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTT GGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCC TGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGG ACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTAC CATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(513): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCCG CCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCC CCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCC CAGGGTGGGAGCCACACACACACCCCCCCACACACACACCCCGCCCCACA CACACCCCCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGCCC CACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAG GGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACAC ACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCCACA CACACACCCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGCCC CACACACACACCCCCCGCCCCACACACACACACACACCCCCCCACACACA CACCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0140 a0003c0006t0002g0140	1	399	0.0025	520	c.557 others(537): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCC CTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGG TGGGAGCCACACACACACCCCCCCACACACACACCCCGCCCCACACACAC CCCCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGCCCCACAC ACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGG GAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCCACACACAC ACCCCGCCCCACACACACCCCCCGCCCCACACACACCCCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACACACACCCCCCCACACACACACCC CGCCCCACACACACACCCCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(513): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGT CCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0013	1	140	0.0071	520	c.114 others(539): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCC CTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370393	A A	ACCCCGGC others(513): Show ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCGGCCCCCGGCTCTCACCCCCTATCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGGCTCTCACTCCCTAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0044 a0001c0001t0016g0044	1	394	0.0025	520	c.-8+ others(533): Show c.-8+105_-8+106insGTAGGGAGTGAGAGCCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGG GTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(513): Show CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGT GTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGTGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCATGGGGGGG TGTGGAGGGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGTGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGA GGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGAGGGGCGCG TGGAGGGGGGCGCGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0059 a0002c0003t0001g0059	1	388	0.0026	520	c.159 others(537): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGT GTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGG CGCATGGGGGGGTGTGGAGGGGGGCGTGTGGAGGGGGGCGCGTGGGGGGG TGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGG AGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(513): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATAT ATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATA TTTATATAAATATAAATATATAAATATATATAATTATATATATATTTAGG TCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp2 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0093 a0001c0001t0006g0094	2	312	0.0064	520	c.293 others(539): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATA TATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATAT TTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAA TATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTT TTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(513): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATATGTTCATATATATACTCATATATATATGTTCATATATATACTC ATATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATATGTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0104 a0005c0005t0001g0104	1	364	0.0028	520	c.394 others(535): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATATGTTCATATATATACTCATATATATATGTTCATATATATACTCATAT ATATATGTTCATATATATACTCATATATATATGTTCATATATATACTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATGTTCATATATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)