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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLCXD1_chrX_276381_308356	297225	TCACATGG others(287): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACA TGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	176	0.0057	-294	c.734 others(17): Show c.734-1811_734-1518del		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297310	ATTATCCT others(287): Show ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTA TTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0126 a0001c0001t0011g0126	1	176	0.0057	-294	c.734 others(17): Show c.734-1782_734-1489del		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298288	ACATTATT others(287): Show ACATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGC CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGC	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	176	0.0057	-294	c.734 others(15): Show c.734-795_734-502del		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137514606	GGTGCCCG others(287): Show GGTGCCCGGGCCCTGTGGCTGGGCTGCGGGCGGGTCACCCGGATGTTGAG GTGCCTGGGCCCTGTGGCTGGGCTGCAGGCGGGTCACTCGGATGTTGATG TGCCCGGGCCCTGTGGCTGGGCTGTGGGTGGGTCACCTGGCTGTTGAGAT GCCCGGGCCCTGTGGCCGGGCTGCAGGTGGGTCACCTGACTGTTGAGGTG CCCGGGCCCTGTGGCTGGGCTGCGGGCGGGTCACCTGGATGTTGAGGTGC CTGGGCCCTGTGGCTGGGCTGCAGGCGGGTCACTCGGATGTTGAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0030 a0030	a0030c0059 a0030c0059	a0030c0059t0001 a0030c0059t0001	a0030c0059t0001g0075 a0030c0059t0001g0075	1	188	0.0053	-294	c.122 others(17): Show c.1225+479_1225+772del		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34						chr9	TogoVar
PRKCA_chr17_66297613_66815743	66798794	ATGGTGGT others(287): Show ATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0156 a0001c0001t0032g0156	1	178	0.0056	-294	c.185 others(19): Show c.1855-5061_1855-4768del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PROB1_chr5_139385592_139400104	139398761	TGCCTGTA others(287): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAG CTACTTTGGAGGCTGTGGCAGAAGAATTGCTTGAACCCAGGAGACGGAGG TTGCAGTGAGCCGAGATCGTGCCATTGCACTTCAGCCTGGGTGACAGAGC GAGATTCCGCTTCAAAAAAAAAAAAGGCCAGGCGTGGTGGCTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(186): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0015 a0016 a0017 a0018	a0001c0003 a0001c0009 a0002c0002 others(13): Show a0001c0003 a0001c0009 a0002c0002 a0002c0019 a0003c0004 a0003c0006 a0003c0012 a0003c0013 a0005c0007 a0007c0010 a0009c0011 a0011c0014 a0015c0015 a0016c0020 a0017c0021 a0018c0023	a0001c0003t0001 a0001c0003t0011 a0001c0009t0001 others(15): Show a0001c0003t0001 a0001c0003t0011 a0001c0009t0001 a0002c0002t0001 a0002c0019t0001 a0003c0004t0001 a0003c0004t0006 a0003c0006t0001 a0003c0012t0001 a0003c0013t0001 a0005c0007t0001 a0007c0010t0001 a0009c0011t0001 a0011c0014t0001 a0015c0015t0007 a0016c0020t0001 a0017c0021t0001 a0018c0023t0001	a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0009t0001g0000 others(15): Show a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0009t0001g0000 a0002c0002t0001g0000 a0002c0019t0001g0000 a0003c0004t0001g0000 a0003c0004t0006g0000 a0003c0006t0001g0000 a0003c0012t0001g0000 a0003c0013t0001g0000 a0005c0007t0001g0000 a0007c0010t0001g0000 a0009c0011t0001g0000 a0011c0014t0001g0000 a0015c0015t0007g0000 a0016c0020t0001g0000 a0017c0021t0001g0000 a0018c0023t0001g0000	189	348	0.5431	-294	c.-39 others(11): Show c.-3974_-3681del		PROB1	ENSG00000228672.4	transcript	ENST00000434752.4	protein_coding					3658		chr5	TogoVar
PROZ_chr13_113153648_113177386	113161924	CTCCCCCC others(287): Show CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCTCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	378	0.0027	-294	c.260 others(16): Show c.260-1014_260-721del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PRSS36_chr16_31133926_31155066	31137547	GGGAGGCT others(287): Show GGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCCAAGATTGTGC CACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAATAAAT AAATAAATAAAATAAATAGGCCAGATGCAGTGGCTCACGCCTGTAAATCC CAGCACTTTGGGAGGCTGAGGTGGGCGGATCATCTGAGGTCAGGAGTTCA AGACCAGCCTGGCCAACATAGAGACACCCCACCTCTACTAAAAATACAAA AATTAGTTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG03516.hp2 HG02630.hp2 HG02896.hp1 HG03516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0037 a0004c0006t0001g0040 a0004c0006t0001g0060 a0004c0006t0001g0037 a0004c0006t0001g0040 a0004c0006t0001g0060	3	330	0.0091	-294	c.12 others(11): Show c.1297_*1590del		PRSS36	ENSG00000178226.11	transcript	ENST00000268281.9	protein_coding					1378		chr16	TogoVar
PRSS8_chr16_31126433_31140727	31137547	GGGAGGCT others(287): Show GGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAAGCCAAGATTGTGC CACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAATAAAT AAATAAATAAAATAAATAGGCCAGATGCAGTGGCTCACGCCTGTAAATCC CAGCACTTTGGGAGGCTGAGGTGGGCGGATCATCTGAGGTCAGGAGTTCA AGACCAGCCTGGCCAACATAGAGACACCCCACCTCTACTAAAAATACAAA AATTAGTTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG03516.hp1 HG02630.hp2 HG02896.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	302	0.0099	-294	c.-23 others(11): Show c.-2343_-2050del		PRSS8	ENSG00000052344.16	transcript	ENST00000317508.11	protein_coding					1821		chr16	TogoVar
RNF185_chr22_31155182_31212019	31188578	ACACTTTG others(287): Show ACACTTTGAGAGGCCATGGTGGGAGGATCACTTGAGCCCAGGAGTGCAAG ATGAGTCTGGGCAACATAGTGAGGCCCCACTATGTTTAAAACTAGTCAGG CATGGTGGCGGTACCTGTAGTCCTAGCTACTCGGGAGACTGAGGTGGGAG GAAGGCTTGAGCCCAGGAATTCGAGGCTACAGTGAGCTATGATTGTATCA CTGCACTCCAGTCTAGGCGACAGAGAGAGACCCTGTCTCTTAAAAATATA TATATATTCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0205 a0001c0001t0015g0205	1	378	0.0027	-294	c.176 others(17): Show c.176+1316_176+1609del		RNF185	ENSG00000138942.17	transcript	ENST00000326132.11	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
RNF213_chr17_80255852_80403794	80314350	AGGTACTG others(287): Show AGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAG GTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAAT GGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAG GTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGT GATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0019 a0019	a0019c0141 a0019c0141	a0019c0141t0001 a0019c0141t0001	a0019c0141t0001g0176 a0019c0141t0001g0176	1	292	0.0034	-294	c.281 others(19): Show c.2811+1187_2811+1480del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP12_chr10_97351701_97406340	97398059	TTTTTTTG others(287): Show TTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02717.hp2 HG03927.hp1 HG01975.hp2 HG02717.hp2 HG03927.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0012 a0003c0002 a0006c0012	a0003c0002t0001 a0006c0012t0001 a0003c0002t0001 a0006c0012t0001	a0003c0002t0001g0268 a0003c0002t0001g0313 a0006c0012t0001g0308 a0003c0002t0001g0268 a0003c0002t0001g0313 a0006c0012t0001g0308	3	400	0.0075	-294	c.369 others(17): Show c.369+1952_370-1759del		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33						chr10	TogoVar
SH3BP2_chr4_2788085_2846096	2808742	GGTGCCCG others(287): Show GGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCA GTGCCCACCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAG TGCCCACCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGT GCCCACCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTG CCCACCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGC CCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(178): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0015 a0003c0014 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0085 a0001c0001t0093 a0001c0002t0002 a0001c0002t0007 a0001c0002t0071 a0001c0003t0006 a0001c0003t0008 a0001c0003t0059 a0001c0003t0082 a0001c0004t0004 a0001c0004t0005 a0001c0004t0008 a0001c0004t0035 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0016 a0001c0005t0031 a0001c0005t0033 a0001c0005t0036 a0001c0005t0042 a0001c0005t0058 a0001c0005t0062 a0001c0005t0079 a0001c0005t0095 a0001c0015t0005 a0003c0014t0002 a0004c0013t0053	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 others(161): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0033 a0001c0001t0002g0222 a0001c0001t0002g0243 a0001c0001t0002g0273 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0314 a0001c0001t0003g0036 a0001c0001t0003g0259 a0001c0001t0003g0272 a0001c0001t0004g0038 a0001c0001t0004g0227 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0009g0012 a0001c0001t0009g0039 a0001c0001t0009g0105 a0001c0001t0009g0221 a0001c0001t0009g0252 a0001c0001t0009g0282 a0001c0001t0010g0208 a0001c0001t0010g0237 a0001c0001t0010g0242 a0001c0001t0010g0249 a0001c0001t0010g0250 a0001c0001t0010g0268 a0001c0001t0011g0010 a0001c0001t0011g0033 a0001c0001t0011g0217 a0001c0001t0012g0106 a0001c0001t0013g0245 a0001c0001t0018g0009 a0001c0001t0022g0220 a0001c0001t0022g0234 a0001c0001t0023g0037 a0001c0001t0024g0218 a0001c0001t0025g0215 a0001c0001t0025g0270 a0001c0001t0026g0235 a0001c0001t0029g0160 a0001c0001t0030g0035 a0001c0001t0030g0295 a0001c0001t0032g0315 a0001c0001t0041g0233 a0001c0001t0044g0232 a0001c0001t0045g0276 a0001c0001t0046g0280 a0001c0001t0047g0107 a0001c0001t0048g0253 a0001c0001t0049g0266 a0001c0001t0050g0263 a0001c0001t0052g0310 a0001c0001t0054g0262 a0001c0001t0055g0054 a0001c0001t0056g0278 a0001c0001t0063g0244 a0001c0001t0064g0291 a0001c0001t0066g0283 a0001c0001t0067g0206 a0001c0001t0068g0229 a0001c0001t0072g0238 a0001c0001t0073g0207 a0001c0001t0085g0293 a0001c0001t0093g0239 a0001c0002t0002g0301 a0001c0002t0007g0069 a0001c0002t0071g0306 a0001c0003t0006g0084 a0001c0003t0008g0034 a0001c0003t0008g0241 a0001c0003t0008g0247 a0001c0003t0059g0248 a0001c0003t0082g0254 a0001c0004t0004g0008 a0001c0004t0004g0031 a0001c0004t0005g0006 a0001c0004t0005g0082 a0001c0004t0005g0086 a0001c0004t0005g0091 a0001c0004t0005g0092 a0001c0004t0005g0103 a0001c0004t0005g0134 a0001c0004t0005g0137 a0001c0004t0005g0138 a0001c0004t0005g0139 a0001c0004t0008g0288 a0001c0004t0035g0102 a0001c0004t0035g0104 a0001c0005t0002g0088 a0001c0005t0002g0089 a0001c0005t0002g0095 a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0002g0101 a0001c0005t0002g0191 a0001c0005t0002g0198 a0001c0005t0002g0200 a0001c0005t0002g0202 a0001c0005t0004g0201 a0001c0005t0006g0019 a0001c0005t0006g0096 a0001c0005t0016g0093 a0001c0005t0031g0097 a0001c0005t0033g0019 a0001c0005t0036g0083 a0001c0005t0042g0199 a0001c0005t0058g0146 a0001c0005t0062g0098 a0001c0005t0079g0056 a0001c0005t0095g0087 a0001c0015t0005g0279 a0003c0014t0002g0294 a0004c0013t0053g0284	181	378	0.4788	-294	c.-4- others(17): Show c.-4-11816_-4-11523del		SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2808798	ACCTTCCC others(287): Show ACCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCA CCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCAC CTTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCACC TTCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCGCCT TCCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCGCCTT CCCCCAGGCTCTGTGCCCACCCACCCTCCTAGGGCTCAGTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	378	0.0027	-294	c.-4- others(17): Show c.-4-11767_-4-11474del		SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHC2_chr19_411589_466033	432232	CAGATAGA others(287): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	212	0.0047	-294	c.111 others(19): Show c.1111-1779_1111-1486del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SNTG2_chr2_945849_1372613	1013149	GAGAGAAG others(287): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTC TGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTT ATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	190	0.0053	-294	c.72+ others(17): Show c.72+62087_72+62380del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013519	GAGAGAAG others(287): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGA GAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTC TGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTT ATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG01975.hp1 others(6): Show HG01257.hp2 HG01496.hp2 HG01975.hp1 HG02165.hp2 HG03654.hp1 HG03927.hp1 NA19000.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0002c0003 a0003c0007 others(3): Show a0001c0001 a0002c0003 a0003c0007 a0003c0008 a0004c0004 a0020c0032	a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0020c0032t0001	a0001c0001t0001g0063 a0001c0001t0001g0067 a0002c0003t0001g0030 others(6): Show a0001c0001t0001g0063 a0001c0001t0001g0067 a0002c0003t0001g0030 a0002c0003t0001g0064 a0002c0003t0001g0183 a0003c0007t0001g0055 a0003c0008t0001g0060 a0004c0004t0001g0065 a0020c0032t0001g0059	9	190	0.0474	-294	c.72+ others(17): Show c.72+62457_72+62750del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX32_chr11_65828963_65858701	65839214	AATTTTTT others(287): Show AATTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01109.hp1 others(12): Show HG00558.hp2 HG00597.hp2 HG01109.hp1 HG01243.hp2 HG02056.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA19009.hp2 NA19070.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0266 a0001c0001t0002g0009 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0266 a0001c0001t0002g0009 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0139 a0001c0001t0002g0140	15	390	0.0385	-294	c.36+ others(15): Show c.36+5130_36+5423del		SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPATA24_chr5_139391767_139409089	139398761	TGCCTGTA others(287): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAG GTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAG CTACTTTGGAGGCTGTGGCAGAAGAATTGCTTGAACCCAGGAGACGGAGG TTGCAGTGAGCCGAGATCGTGCCATTGCACTTCAGCCTGGGTGACAGAGC GAGATTCCGCTTCAAAAAAAAAAAAGGCCAGGCGTGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(182): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	185	336	0.5506	-294	c.386 others(17): Show c.386-1912_386-1619del		SPATA24	ENSG00000170469.11	transcript	ENST00000450845.7	protein_coding	4/5						chr5	TogoVar
TAF4_chr20_61969798_62070881	62057739	GGGGGGCC others(287): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02083.hp2 others(13): Show HG00544.hp2 HG00558.hp2 HG02083.hp2 HG02155.hp1 HG04204.hp1 NA18944.hp2 NA18949.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp2 NA18984.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp1 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0001 a0002c0006 a0003c0007 others(2): Show a0001c0001 a0002c0006 a0003c0007 a0007c0016 a0018c0018	a0001c0001t0001 a0002c0006t0001 a0003c0007t0001 others(2): Show a0001c0001t0001 a0002c0006t0001 a0003c0007t0001 a0007c0016t0001 a0018c0018t0001	a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 others(13): Show a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0002c0006t0001g0295 a0003c0007t0001g0018 a0007c0016t0001g0302 a0007c0016t0001g0303 a0018c0018t0001g0009	16	314	0.0510	-294	c.136 others(19): Show c.1360+6418_1360+6711del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TOLLIP_chr11_1269371_1314632	1287430	CGCCGCAG others(287): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCTGCACCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0321 a0001c0002t0004g0321	1	348	0.0029	-294	c.519 others(16): Show c.519+900_519+1193del		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TRIOBP_chr22_37692048_37781556	37724034	GTAGAGCT others(287): Show GTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAAT CCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCC CAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATA GAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCC AGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAG AACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0013 a0016c0019t0013	a0016c0019t0013g0266 a0016c0019t0013g0267 a0016c0019t0013g0266 a0016c0019t0013g0267	2	322	0.0062	-294	c.157 others(9): Show c.1572_1865del	p.Asn others(13): Show p.Asn525_Asp622del	TRIOBP	ENSG00000100106.22	transcript	ENST00000644935.1	protein_coding	7/24	1783/10085	1572/7098	524/2365		INFO_REALIGN_3_PRIME	chr22	TogoVar
TRPM2_chr21_44348621_44447644	44369464	CGCTGTGG others(287): Show CGCTGTGGGGAGCAGGCGGAGTGTGCGGGGGCCGGGGTGTGGGTGACGTC TGACCGGGTGCTGCGGGGAGCAGGTGGAGTGTGCGGGGGCCGGGGTGTGG GTGAGTTCTGACCGGGTGCTGCGGGGAGCAGGTGGAGTGTGCGGGGGAGG CGGGGTGTGGGTGACGTCTGACCGGGTGCTGCGGGGAGCAGGTGGAGTGT GCGGGGGAGGCGGGGTGTGGGTGACGTCTGACCGGGTGCTGCGGCGAGCA GGTGGAGTGTGCGGGGGCCGGGGTGTGGGTGAGTTCTGACCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02293.hp1 HG03942.hp2 others(4): Show HG01081.hp1 HG02293.hp1 HG03942.hp2 NA18966.hp1 NA18999.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0002c0002t0004 a0005c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0005c0004t0001 a0005c0004t0005	a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0004g0033 others(4): Show a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0037 a0005c0004t0001g0032 a0005c0004t0005g0038	7	44	0.1591	-294	c.771 others(15): Show c.771+126_771+419del		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	5/31					INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFAT_chr8_134472788_134718031	134497520	TGCTGGTT others(287): Show TGCTGGTTACACACAGAGCCGATTTGGTAGGGTTGGGGTGGAGCCGGGAT GCCCCAGCTGCTGGTTACACACAGAGCCTGATTTCGTAGGGTTGGGGTGG AGCCGTGATGCCCCTGCTGCTGGTTACACACAGAGCCTGATTTGGTAGGG TTGGGGTGGAGCCAGGATGCCCCCGCTGCTGGTTACACACACAGCCTGAT TTGGTAGGGTTGGGGTGGAGCCGTGATGCCCCTGCTGCTGGTTACACACA GAGCCTGATTTGGTAGGGTTGGGGTGGAGCCGGGATGCCCCAGCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19043.hp2 HG01891.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0141 a0001c0004t0001g0142	2	274	0.0073	-294	c.349 others(21): Show c.3492+11805_3492+12098del		ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15						chr8	TogoVar
ACAP3_chr1_1287391_1312930	1289679	CTCTGCTC others(286): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	295	0.0034	-293	c.35 others(11): Show c.3592_*3884del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2711		chr1	TogoVar
B9D2_chr19_41349417_41369149	41361786	CAAAAAAA others(286): Show CAAAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACT TTGGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAG CCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC TGGGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACAT AGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCG TGCCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18988.hp1 HG02683.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0061 a0001c0001t0001g0083	2	360	0.0056	-293	c.88+ others(15): Show c.88+1353_88+1645del		B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3						chr19	TogoVar
CADPS2_chr7_122313411_122891460	122705700	AATATATC others(286): Show AATATATCATATATTATATAATATATCATATATTATATAATATATAATAT ATATAATATATAATATATGATATATTATATAATATATATCATATATAATA TAATATATATGATATATAATAATATATATTTATATATAATATATATTATA TAACATATTATACATATTATATATAATATAATATAATAAATATAATATAA TATATAATATATTATATAATATAATATATAATATATTATATAATATAATA TATAATATATATATAATATAATATAATATATAATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02080.hp2 HG04115.hp1 HG01975.hp2 HG02080.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002	a0001c0001t0003g0078 a0001c0003t0001g0046 a0001c0003t0002g0032 a0001c0001t0003g0078 a0001c0003t0001g0046 a0001c0003t0002g0032	3	126	0.0238	-293	c.453 others(19): Show c.453+30962_453+31254del		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29						chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113617604	CTGAGAAG others(286): Show CTGAGAAGGCACATCCCTTGCTGATGAAGAGTTGTTACTTCTGTAAGGAA AAACAGAACAATTTTTTTTGTTCTTAATTTGAAATGGGGTCTTGCTATGT TGCTGAGGCTGGCCTCTTGAATGCCTGGTTCAAGCAATCCTCCTACCTCA GCCTCCAGAATAGCTGGGATTACACAAACACCACCATTCCTGGCTAGAAG AAACAATTTTTAAAGGAGATAAAAAATAACAAGAATAAAATCAAACATGG TGAAGTATATTTCACATTAAAGGTAACTATTGCTTTGTGAAACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	278	0.0036	-293	c.221 others(17): Show c.221-8691_221-8399del		CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	3/20						chr4	TogoVar
CCDC77_chr12_396644_447642	420646	TACACATA others(286): Show TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	432	0.0023	-293	c.413 others(17): Show c.413+2025_413+2317del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
COG1_chr17_73188055_73213507	73194168	TGCGGTGG others(286): Show TGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACACAAAATTAGCCAGGCGTGGTGGCCGGCGCC TGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCCACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02895.hp2 others(1): Show HG01192.hp2 HG02109.hp1 HG02895.hp2 HG02896.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0032 a0002c0001t0001g0120 a0002c0001t0001g0121	4	428	0.0094	-293	c.315 others(16): Show c.315+785_315+1077del		COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	1/13						chr17	TogoVar
COL4A2_chr13_110302284_110518209	110355431	TACTAGCT others(286): Show TACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTG GGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGG GGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0353 a0001c0003t0002g0353	1	372	0.0027	-293	c.100 others(17): Show c.100-1988_100-1696del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CORO2B_chr15_68573993_68732806	68691331	AAAAAAAA others(286): Show AAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(104): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 NA18522.hp2 NA18944.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0005t0003 a0003c0006t0002	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0028 others(104): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0119 a0001c0001t0002g0147 a0001c0001t0002g0197 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0128 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0183 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0235 a0001c0001t0003g0239 a0001c0001t0004g0026 a0001c0001t0004g0091 a0001c0001t0004g0099 a0001c0001t0004g0103 a0001c0001t0004g0106 a0001c0001t0004g0113 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0154 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0004g0240 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0029 a0001c0001t0005g0046 a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0005g0144 a0001c0001t0005g0165 a0001c0001t0005g0196 a0001c0001t0006g0021 a0001c0001t0006g0237 a0001c0001t0007g0163 a0001c0001t0007g0232 a0001c0001t0010g0249 a0001c0001t0013g0253 a0001c0001t0015g0222 a0001c0001t0016g0250 a0001c0001t0019g0201 a0001c0001t0020g0203 a0001c0001t0023g0207 a0001c0001t0025g0159 a0001c0001t0026g0055 a0001c0002t0002g0171 a0001c0005t0003g0208 a0003c0006t0002g0115	107	256	0.4180	-293	c.217 others(17): Show c.217-3796_217-3504del		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CPNE7_chr16_89570758_89602246	89587913	CCGTGTCA others(286): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	348	0.0029	-293	c.928 others(15): Show c.928-751_928-459del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1287483	GCCCAGGC others(286): Show GCCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCCCTGCAACCTGTGCC TCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTG ATCCACCCGCCTCGGCCTCCCAGAGTGCTGGCATTACAGGTGTGAGCCAC TATGTCCGACCCTTTTTTTGGGGGGATGGAGTCTCTGTCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0027	1	159	0.0063	-293	c.220 others(16): Show c.220-1001_220-709del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1287518	CCTGCAAC others(286): Show CCTGCAACCTGTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCC TGAGTAGCTGGGATTACAGGTGCCCACCACCACACCTGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAAC TCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAGAGTGCTGGCATT ACAGGTGTGAGCCACTATGTCCGACCCTTTTTTTGGGGGGATGGAGTCTC TGTCTGTCACCCAGGCTGGAGTGCACTGGCGTGATCTCAGCTCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp1 HG01884.hp2 others(16): Show HG00408.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02056.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02809.hp1 HG03041.hp1 HG03139.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03927.hp1 HG04184.hp2 NA18973.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0018t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0048 a0001c0001t0002g0031 a0001c0001t0002g0032 others(16): Show a0001c0001t0001g0048 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0100 a0001c0001t0003g0024 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0003g0151 a0001c0002t0003g0080 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0018t0003g0107 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0002g0005 a0002c0003t0005g0010 a0002c0003t0005g0137	19	159	0.1195	-293	c.220 others(15): Show c.220-970_220-678del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1287593	ACCACCAC others(286): Show ACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGC CTCGGCCTCCCAGAGTGCTGGCATTACAGGTGTGAGCCACTATGTCCGAC CCTTTTTTTGGGGGGATGGAGTCTCTGTCTGTCACCCAGGCTGGAGTGCA CTGGCGTGATCTCAGCTCACTGCAACCTGTGCCTCCTGGGTTCAAGAGAG TCTCCTGCCTCAGCCTCCCGAGTAGCAGGGATTACAGGTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG01891.hp2 others(6): Show HG00639.hp1 HG01496.hp1 HG01891.hp2 HG03490.hp2 NA18975.hp2 NA18998.hp1 NA18998.hp2 NA19081.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0002	a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0095 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0002t0001g0077 a0001c0002t0002g0018 a0002c0003t0002g0157	9	159	0.0566	-293	c.220 others(15): Show c.220-860_220-568del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3795318	CAGATATA others(286): Show CAGATATAGATATCTATCATGTAGATATAGATATATATCTATCATGTATA TAGATATATATCATGTATAGATATAGATATCTATCATAGATATAGATATA TATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCATAGATATAGATATATATCTATCAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	-293	c.819 others(19): Show c.819-41569_819-41277del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691810	GGTACCGA others(286): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAC GCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-293	c.279 others(17): Show c.2796+186_2796+478del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691978	GGTACCGA others(286): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAC GCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	-293	c.279 others(17): Show c.2796+354_2796+646del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1692020	GGTACCGA others(286): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTG GTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAAC GCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	-293	c.279 others(17): Show c.2796+396_2796+688del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH6_chr2_84511498_84824589	84531316	TTTATTTT others(286): Show TTTATTTTCCTTTTTTTTTTTATTTTTTATTTTTTTTTATTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(84): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18982.hp1 NA18982.hp2 NA19077.hp1 NA19077.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0005 a0001c0010 others(33): Show a0001c0001 a0001c0005 a0001c0010 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0035 a0001c0036 a0002c0004 a0002c0006 a0002c0033 a0003c0002 a0003c0040 a0006c0012 a0006c0013 a0006c0030 a0008c0011 a0010c0016 a0011c0014 a0012c0019 a0012c0032 a0013c0025 a0013c0027 a0015c0042 a0016c0039 a0017c0038 a0018c0023 a0019c0037 a0020c0041	a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 others(33): Show a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 a0001c0015t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0001c0026t0001 a0001c0028t0001 a0001c0029t0001 a0001c0031t0001 a0001c0034t0004 a0001c0035t0001 a0001c0036t0003 a0002c0004t0001 a0002c0006t0001 a0002c0033t0001 a0003c0002t0001 a0003c0040t0001 a0006c0012t0001 a0006c0013t0001 a0006c0030t0001 a0008c0011t0001 a0010c0016t0001 a0011c0014t0001 a0012c0019t0001 a0012c0032t0001 a0013c0025t0001 a0013c0027t0001 a0015c0042t0001 a0016c0039t0001 a0017c0038t0001 a0018c0023t0001 a0019c0037t0001 a0020c0041t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(84): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0029 a0001c0010t0001g0020 a0001c0010t0001g0025 a0001c0010t0001g0026 a0001c0015t0001g0081 a0001c0015t0001g0082 a0001c0020t0001g0031 a0001c0021t0001g0032 a0001c0022t0001g0002 a0001c0024t0001g0030 a0001c0026t0001g0015 a0001c0028t0001g0017 a0001c0029t0001g0059 a0001c0031t0001g0055 a0001c0034t0004g0047 a0001c0035t0001g0075 a0001c0036t0003g0060 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0027 a0002c0006t0001g0038 a0002c0006t0001g0044 a0002c0006t0001g0046 a0002c0006t0001g0049 a0002c0006t0001g0061 a0002c0033t0001g0050 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0004 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0009 a0003c0040t0001g0070 a0006c0012t0001g0021 a0006c0012t0001g0022 a0006c0013t0001g0039 a0006c0013t0001g0040 a0006c0030t0001g0069 a0008c0011t0001g0048 a0008c0011t0001g0064 a0008c0011t0001g0072 a0010c0016t0001g0083 a0010c0016t0001g0084 a0011c0014t0001g0087 a0011c0014t0001g0088 a0012c0019t0001g0033 a0012c0032t0001g0074 a0013c0025t0001g0028 a0013c0027t0001g0016 a0015c0042t0001g0062 a0016c0039t0001g0089 a0017c0038t0001g0066 a0018c0023t0001g0010 a0019c0037t0001g0051 a0020c0041t0001g0065	87	116	0.7500	-293	c.662 others(17): Show c.662+2164_662+2456del		DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	4/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA1671_chr22_24947716_25202448	25000199	TTTTTTTT others(286): Show TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0028 a0028	a0028c0095 a0028c0095	a0028c0095t0001 a0028c0095t0001	a0028c0095t0001g0214 a0028c0095t0001g0214	1	254	0.0039	-293	c.-20 others(21): Show c.-207-25421_-207-25129del		KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
MMP26_chr11_4699784_4997429	4766573	CTACAATA others(286): Show CTACAATAAAAAGTGATTTAATTAACTCACATCAGTAAATGGGTATCCTT GCTTGGTGTAACAAATGGGCTGTTTGGAAACTTATTTAAGTTACATCCTT AATTTCTCTCCCACTTTCCTTTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTTTTTCATCCTTTTTCTCTCTCCCTTTTTTCTTTCCTCCCAC GGTTTCTCTCTCTCTTTCTCTATGACATTCATTTTTTGCAGTGACTCTGA CAATTTAAAAATTTTCTGCTGGTGGCTGTGCTATCGGTTCGGAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp1 HG02647.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0169 a0001c0001t0001g0124 a0001c0001t0001g0169	2	206	0.0097	-293	c.-21 others(17): Show c.-216-694_-216-402del		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOM2_chr8_2040046_2150456	2085560	CTGCGTGG others(286): Show CTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0109 a0003c0001t0001g0109	1	403	0.0025	-293	c.164 others(17): Show c.1644+173_1644+465del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085613	CGTGGCCC others(286): Show CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0091 a0091	a0091c0064 a0091c0064	a0091c0064t0001 a0091c0064t0001	a0091c0064t0001g0070 a0091c0064t0001g0070	1	403	0.0025	-293	c.164 others(17): Show c.1644+236_1644+528del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPD3_chr11_134145113_134228967	134166032	CGCACACT others(286): Show CGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTG AGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGA GGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTG TGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAG CACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGA GCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00673.hp1 others(130): Show HG00140.hp1 HG00323.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013 a0016 a0017	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0024 a0001c0027 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0009 a0007c0007 a0010c0014 a0012c0016 a0013c0017 a0016c0025 a0017c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0050 a0001c0001t0051 a0001c0008t0001 a0001c0010t0015 a0001c0024t0028 a0001c0027t0026 a0002c0003t0004 a0002c0003t0016 a0003c0004t0006 a0003c0004t0056 a0004c0005t0004 a0004c0005t0016 a0005c0006t0001 a0006c0009t0015 a0006c0009t0032 a0007c0007t0019 a0010c0014t0004 a0012c0016t0004 a0013c0017t0034 a0016c0025t0015 a0017c0023t0018	a0001c0001t0001g0005 a0001c0001t0001g0320 a0001c0001t0001g0321 others(129): Show a0001c0001t0001g0005 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0004g0289 a0001c0001t0006g0127 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0132 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0195 a0001c0001t0007g0138 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 a0001c0001t0007g0295 a0001c0001t0007g0296 a0001c0001t0007g0297 a0001c0001t0007g0298 a0001c0001t0007g0299 a0001c0001t0007g0301 a0001c0001t0009g0042 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0096 a0001c0001t0009g0097 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0019 a0001c0001t0012g0020 a0001c0001t0014g0303 a0001c0001t0014g0305 a0001c0001t0014g0306 a0001c0001t0014g0307 a0001c0001t0014g0308 a0001c0001t0018g0358 a0001c0001t0018g0359 a0001c0001t0018g0364 a0001c0001t0020g0314 a0001c0001t0020g0315 a0001c0001t0020g0316 a0001c0001t0022g0128 a0001c0001t0022g0200 a0001c0001t0026g0362 a0001c0001t0027g0357 a0001c0001t0027g0360 a0001c0001t0029g0197 a0001c0001t0030g0300 a0001c0001t0031g0304 a0001c0001t0035g0288 a0001c0001t0050g0007 a0001c0001t0051g0099 a0001c0008t0001g0319 a0001c0008t0001g0322 a0001c0008t0001g0336 a0001c0010t0015g0281 a0001c0010t0015g0282 a0001c0024t0028g0016 a0001c0027t0026g0363 a0002c0003t0004g0107 a0002c0003t0004g0109 a0002c0003t0004g0133 a0002c0003t0004g0134 a0002c0003t0004g0135 a0002c0003t0004g0136 a0002c0003t0004g0139 a0002c0003t0004g0198 a0002c0003t0004g0199 a0002c0003t0004g0201 a0002c0003t0016g0108 a0002c0003t0016g0110 a0002c0003t0016g0111 a0003c0004t0006g0131 a0003c0004t0006g0162 a0003c0004t0006g0191 a0003c0004t0006g0196 a0003c0004t0056g0194 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0012 a0004c0005t0016g0008 a0005c0006t0001g0323 a0005c0006t0001g0324 a0005c0006t0001g0325 a0005c0006t0001g0326 a0006c0009t0015g0089 a0006c0009t0015g0098 a0006c0009t0032g0094 a0007c0007t0019g0206 a0007c0007t0019g0207 a0007c0007t0019g0208 a0010c0014t0004g0104 a0012c0016t0004g0013 a0013c0017t0034g0103 a0016c0025t0015g0090 a0017c0023t0018g0361	133	370	0.3595	-293	c.357 others(19): Show c.3573+1671_3573+1963del		NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34						chr11	TogoVar
OR51F1_chr11_4763979_4774938	4766573	CTACAATA others(286): Show CTACAATAAAAAGTGATTTAATTAACTCACATCAGTAAATGGGTATCCTT GCTTGGTGTAACAAATGGGCTGTTTGGAAACTTATTTAAGTTACATCCTT AATTTCTCTCCCACTTTCCTTTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTTTTTCATCCTTTTTCTCTCTCCCTTTTTTCTTTCCTCCCAC GGTTTCTCTCTCTCTTTCTCTATGACATTCATTTTTTGCAGTGACTCTGA CAATTTAAAAATTTTCTGCTGGTGGCTGTGCTATCGGTTCGGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA19043.hp2 HG02647.hp2 NA19043.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0000 a0002c0014t0000	a0002c0014t0000g0000 a0002c0014t0000g0000	2	342	0.0059	-293	c.21 others(11): Show c.2113_*2405del		OR51F1	ENSG00000280021.3	transcript	ENST00000624103.2	protein_coding					2405		chr11	TogoVar
PPP2R3B_chrX_328933_391907	377199	CCAGTGGG others(286): Show CCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTATGCAGGGACGG GCCGTCCACAGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTGTACA GGGACGGGCCGTCCACACCCAGTGGGGCCGCCATGGGGCTGTCTATACAC TACTGTATGCAGGGACGGGCCGTCCACAGTGGGGCCGCCATGGGGCTGTC TATACACTACTGTGTACAGGGACGGGCCGTCCACACCCAGTGGGGCCACC ATGGGGCTGTCTATACACTACTGTGTACAGGGACGGGCCGTCCA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	25	0.0400	-293	c.324 others(17): Show c.324+8876_324+9168del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PTPRH_chr19_55176247_55214501	55208379	TTGGGGGC others(286): Show TTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGCCTGAA GGAGGAGGGACTGGGGGTCTGGACCCCTGAGTCTGAGGGAAGAGGGGCTG GGGGTCTGGACTCCTGAGTCTGAGGGAGGAGGGGTTGGGGGCCTGGACTC TTGGTTTGAGGGAGGAAGGGCTGGGGGCCTGGACTCCCGGGTCTGAGGGA GGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(126): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18965.hp1 NA18969.hp1 NA18974.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0026 a0027 a0028 a0029 a0033 a0035 a0037 a0038 a0042	a0001c0001 a0001c0004 a0001c0014 others(62): Show a0001c0001 a0001c0004 a0001c0014 a0002c0002 a0002c0005 a0002c0013 a0002c0028 a0002c0035 a0002c0036 a0002c0081 a0002c0101 a0003c0003 a0003c0007 a0003c0071 a0003c0072 a0003c0123 a0004c0016 a0004c0022 a0004c0066 a0004c0078 a0004c0114 a0005c0006 a0005c0070 a0005c0082 a0005c0117 a0006c0010 a0006c0060 a0006c0064 a0007c0011 a0007c0073 a0008c0027 a0008c0032 a0008c0080 a0009c0112 a0010c0037 a0010c0059 a0010c0062 a0010c0063 a0010c0103 a0011c0020 a0011c0061 a0012c0067 a0012c0068 a0013c0033 a0013c0034 a0014c0075 a0015c0021 a0016c0019 a0016c0054 a0017c0031 a0018c0030 a0018c0055 a0019c0029 a0019c0053 a0021c0056 a0024c0122 a0026c0092 a0027c0057 a0028c0058 a0029c0074 a0033c0076 a0035c0077 a0037c0120 a0038c0084 a0042c0052	a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 others(63): Show a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 a0002c0002t0002 a0002c0005t0002 a0002c0013t0001 a0002c0028t0001 a0002c0035t0001 a0002c0036t0001 a0002c0081t0001 a0002c0101t0001 a0003c0003t0003 a0003c0007t0003 a0003c0071t0004 a0003c0072t0003 a0003c0123t0001 a0004c0016t0001 a0004c0022t0002 a0004c0066t0003 a0004c0078t0001 a0004c0114t0001 a0005c0006t0001 a0005c0070t0001 a0005c0082t0001 a0005c0117t0001 a0006c0010t0001 a0006c0060t0001 a0006c0064t0001 a0007c0011t0001 a0007c0073t0001 a0008c0027t0001 a0008c0032t0001 a0008c0080t0001 a0009c0112t0003 a0010c0037t0003 a0010c0037t0005 a0010c0059t0005 a0010c0062t0001 a0010c0063t0002 a0010c0103t0002 a0011c0020t0003 a0011c0061t0003 a0012c0067t0001 a0012c0068t0001 a0013c0033t0001 a0013c0034t0001 a0014c0075t0001 a0015c0021t0003 a0016c0019t0003 a0016c0054t0003 a0017c0031t0001 a0018c0030t0001 a0018c0055t0001 a0019c0029t0003 a0019c0053t0004 a0021c0056t0001 a0024c0122t0001 a0026c0092t0001 a0027c0057t0003 a0028c0058t0001 a0029c0074t0003 a0033c0076t0003 a0035c0077t0001 a0037c0120t0001 a0038c0084t0001 a0042c0052t0001	a0001c0001t0001g0144 a0001c0004t0001g0003 a0001c0004t0001g0064 others(107): Show a0001c0001t0001g0144 a0001c0004t0001g0003 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0085 a0001c0004t0001g0090 a0001c0004t0001g0093 a0001c0004t0001g0099 a0001c0004t0001g0104 a0001c0004t0001g0134 a0001c0014t0001g0092 a0001c0014t0001g0132 a0002c0002t0002g0142 a0002c0005t0002g0073 a0002c0005t0002g0074 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0005t0002g0077 a0002c0005t0002g0078 a0002c0005t0002g0105 a0002c0013t0001g0017 a0002c0013t0001g0141 a0002c0028t0001g0151 a0002c0035t0001g0086 a0002c0035t0001g0094 a0002c0036t0001g0095 a0002c0081t0001g0063 a0002c0101t0001g0055 a0003c0003t0003g0149 a0003c0007t0003g0008 a0003c0007t0003g0016 a0003c0007t0003g0065 a0003c0007t0003g0083 a0003c0007t0003g0107 a0003c0007t0003g0108 a0003c0071t0004g0110 a0003c0072t0003g0084 a0003c0123t0001g0116 a0004c0016t0001g0020 a0004c0016t0001g0096 a0004c0016t0001g0136 a0004c0022t0002g0007 a0004c0066t0003g0080 a0004c0078t0001g0097 a0004c0114t0001g0153 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0066 a0005c0006t0001g0071 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0102 a0005c0006t0001g0131 a0005c0070t0001g0101 a0005c0082t0001g0113 a0005c0117t0001g0152 a0006c0010t0001g0019 a0006c0010t0001g0128 a0006c0010t0001g0129 a0006c0010t0001g0130 a0006c0060t0001g0119 a0006c0064t0001g0146 a0007c0011t0001g0018 a0007c0011t0001g0087 a0007c0011t0001g0088 a0007c0011t0001g0140 a0007c0073t0001g0072 a0008c0027t0001g0015 a0008c0032t0001g0133 a0008c0032t0001g0135 a0008c0080t0001g0138 a0009c0112t0003g0103 a0010c0037t0003g0032 a0010c0037t0005g0033 a0010c0059t0005g0127 a0010c0062t0001g0117 a0010c0063t0002g0069 a0010c0103t0002g0150 a0011c0020t0003g0070 a0011c0020t0003g0123 a0011c0061t0003g0114 a0012c0067t0001g0079 a0012c0068t0001g0098 a0013c0033t0001g0137 a0013c0033t0001g0139 a0013c0034t0001g0089 a0013c0034t0001g0118 a0014c0075t0001g0100 a0015c0021t0003g0006 a0016c0019t0003g0057 a0016c0019t0003g0058 a0016c0019t0003g0320 a0016c0054t0003g0059 a0017c0031t0001g0052 a0018c0030t0001g0014 a0018c0055t0001g0148 a0019c0029t0003g0061 a0019c0029t0003g0062 a0019c0053t0004g0056 a0021c0056t0001g0068 a0024c0122t0001g0115 a0026c0092t0001g0145 a0027c0057t0003g0106 a0028c0058t0001g0109 a0029c0074t0003g0111 a0033c0076t0003g0091 a0035c0077t0001g0112 a0037c0120t0001g0143 a0038c0084t0001g0120 a0042c0052t0001g0060	129	378	0.3413	-293	c.51+ others(14): Show c.51+711_51+1003del		PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19						chr19	TogoVar
RNF148_chr7_122696668_122707922	122705700	AATATATC others(286): Show AATATATCATATATTATATAATATATCATATATTATATAATATATAATAT ATATAATATATAATATATGATATATTATATAATATATATCATATATAATA TAATATATATGATATATAATAATATATATTTATATATAATATATATTATA TAACATATTATACATATTATATATAATATAATATAATAAATATAATATAA TATATAATATATTATATAATATAATATATAATATATTATATAATATAATA TATAATATATATATAATATAATATAATATATAATATTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01928.hp2 HG01975.hp2 others(8): Show HG00558.hp1 HG01928.hp2 HG01975.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 NA18612.hp2 NA18955.hp2 NA19005.hp1 NA19012.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	432	0.0255	-293	c.-32 others(11): Show c.-3243_-2951del		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2779		chr7	TogoVar

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