Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAI2_chr17_74269234_74319884	74301858	GGAAAGAA others(205): Show GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0028 a0002c0008 a0002c0028	a0002c0008t0003 a0002c0028t0003 a0002c0008t0003 a0002c0028t0003	a0002c0008t0003g0219 a0002c0028t0003g0211 a0002c0008t0003g0219 a0002c0028t0003g0211	2	395	0.0051	-212	c.987 others(15): Show c.987+694_987+905del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301862	AGAAGGAA others(205): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 NA20300.hp2 HG02965.hp2 HG02976.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0012 a0006c0013 a0004c0012 a0006c0013	a0004c0012t0003 a0006c0013t0002 a0004c0012t0003 a0006c0013t0002	a0004c0012t0003g0205 a0004c0012t0003g0206 a0006c0013t0002g0337 a0004c0012t0003g0205 a0004c0012t0003g0206 a0006c0013t0002g0337	3	328	0.0091	-212	c.987 others(15): Show c.987+746_987+957del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH7_chr9_137549444_137583925	137566422	ACTCTGTC others(205): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	317	0.0032	-212	c.641 others(17): Show c.641-1480_641-1269del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566542	ACTCTGTC others(205): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18975.hp2 HG04228.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0185 a0001c0001t0001g0165 a0001c0001t0001g0185	2	314	0.0064	-212	c.641 others(17): Show c.641-1600_641-1389del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566959	CTCTGTCT others(205): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG06807.hp1 HG01175.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0191 a0001c0001t0001g0058 a0001c0001t0001g0191	2	260	0.0077	-212	c.641 others(17): Show c.641-2017_641-1806del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567664	ACTCTGTC others(205): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01517.hp2 others(10): Show HG00738.hp2 HG01175.hp2 HG01517.hp2 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG04228.hp1 HG04228.hp2 NA18953.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0070 others(10): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0220 a0006c0008t0001g0054	13	329	0.0395	-212	c.641 others(17): Show c.641-2722_641-2511del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567694	ACTCTGTC others(205): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	322	0.0031	-212	c.641 others(17): Show c.641-2752_641-2541del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DUXA_chr19_57149021_57172485	57169123	AACAAAAA others(205): Show AACAAAAATGATATAAATGATATATATTTTAAATATACAGTTTGAATTTT GAAATACACAAAAGATATAATTACCATAATCAAATCAAGCTGATTGATGT ATTTACCACCTCAAACCACACCCTTTGTGTGTGTGTACATATATATTACA TTATATTATATTTACTCCAATTAAATATTGTATTTACTTTTTAGCTTTAT TGAGGTACAGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(54): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00673.hp1 HG01109.hp2 HG01257.hp2 HG01358.hp2 HG01517.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18971.hp1 NA18971.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA19002.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0304 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0327 a0001c0001t0002g0342 a0001c0001t0003g0302 a0001c0001t0003g0303 a0002c0005t0001g0217	57	438	0.1301	-212	c.-18 others(11): Show c.-1892_-1681del	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		1639		chr19	TogoVar
DUXA_chr19_57149021_57172485	57169454	ACCCTTTG others(205): Show ACCCTTTGTGTGTGTGTACATATATATTACATTATATTATATTTACTCCA ATTAAATATTGTATTTACTTTTTAGCTTTATTGAGGTACAGTTGACAAAA ATGATATAAATGATATATATTTTAAATATACAGTTTGAATTTTGAAATAC ACAAAAGATATAATTACCATAATCAAATCAAGCTGATTGATGTATTTACC ACCTCAAACCACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0370 a0001c0006t0001g0370	1	397	0.0025	-212	c.-22 others(11): Show c.-2223_-2012del	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		1970		chr19	TogoVar
ERC1_chr12_986223_1500931	1121640	GATCTCTA others(205): Show GATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATC TCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTC TATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTATCTCTA TCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATC TATCTCTATCTCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0117 a0002c0002t0029g0117	1	139	0.0072	-212	c.156 others(19): Show c.1569+5636_1569+5847del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238110341	TCTGTCCC others(205): Show TCTGTCCCAGGATCCCATTTAGGGTGCCATATGTTACCGAGTGTCCCTTT TCTGTCCCAGGATATATCCACACCGCCCATTTAGGATGCCATATGTTACC GAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGATGCCATATGTTACC GAGTGTCCCTTTTCTGTCCCAGGATCCCATTTAGGGTGCCACACGTTACC GAGTGTCCCTTTA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0326 a0004c0003t0005g0326	1	406	0.0025	-212	c.855 others(17): Show c.855+2431_855+2642del	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO25_chr8_401958_482967	402463	CCCCCCAG others(205): Show CCCCCCAGACATGAGTTTACCTGTATAGCAAACCTGTACATGTAGGGTGA TGAAATAATCTGTACAACAAACCCCCCAGACATGAGTTTACCTGTATAGC AAACCTGTACATGTAGGGTGATGAAATAATCTGTACAACAAACCCCCCAG ACATGAGTTTACCTGTATAGCAAACCTGTACATGTAGGGTGATGAAATAA TCTGTACAACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0225 a0001c0001t0130g0225	1	410	0.0024	-212	c.-46 others(11): Show c.-4610_-4399del	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding		4494		chr8	TogoVar
FMN1_chr15_32760544_33199714	32777817	TTTATATA others(205): Show TTTATATATTATGTATAATATATAATACATTAATTATATATTATGTATAA TATATAATACATTATATATTATGTATAATATATAATACATTATATATTAT GTATAATATATAATACATTATATATTATGTATAATATATAATACATTTAT TATATATTATGTATAATATATAATACATTTATTATATATTATGTATAATA TATAATACATTTA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02886.hp1 HG02965.hp1 others(2): Show HG01255.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1	a0001 a0008 a0047 a0001 a0008 a0047	a0001c0001 a0001c0002 a0001c0051 others(2): Show a0001c0001 a0001c0002 a0001c0051 a0008c0021 a0047c0078	a0001c0001t0023 a0001c0002t0028 a0001c0051t0075 others(2): Show a0001c0001t0023 a0001c0002t0028 a0001c0051t0075 a0008c0021t0023 a0047c0078t0074	a0001c0001t0023g0109 a0001c0002t0028g0003 a0001c0051t0075g0143 others(2): Show a0001c0001t0023g0109 a0001c0002t0028g0003 a0001c0051t0075g0143 a0008c0021t0023g0138 a0047c0078t0074g0031	5	150	0.0333	-212	c.413 others(18): Show c.4131-1110_4131-899del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GET4_chr7_871554_901436	889708	GAGCGGAG others(205): Show GAGCGGAGGGAGTGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGAGGGAGCGAGAGCG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGA CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01433.hp2 others(2): Show HG01106.hp1 HG01175.hp2 HG01433.hp2 HG01517.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0023 a0001c0001t0001g0197 a0001c0001t0001g0210	5	382	0.0131	-212	c.467 others(17): Show c.467-1219_467-1008del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8			chr7	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(205): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02523.hp1 others(11): Show HG01109.hp1 HG02027.hp1 HG02523.hp1 NA18941.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18977.hp1 NA18987.hp2 NA18995.hp1 NA19007.hp1 NA19058.hp1 NA19074.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0004t0004 a0002c0002t0004 a0002c0002t0005	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0104 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0002g0085 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0004g0096 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0004g0091 a0002c0002t0004g0002 a0002c0002t0005g0099	14	274	0.0511	-212	c.149 others(17): Show c.149+1685_149+1896del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HDAC4_chr2_239043168_239406020	239232602	CCCCTCAC others(205): Show CCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGGTGGC CCTTCCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGG TGGCCCTTCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAA GGTGGCCCTTCCCTCTCCAAGCCAAGGGCGGCCCTTCCCCTCACCAAGCC AAGGGTGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0081 a0001c0003t0005g0081	1	238	0.0042	-212	c.94+ others(15): Show c.94+3779_94+3990del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
INPP5A_chr10_132532787_132788480	132771770	AGAGTGGG others(205): Show AGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCC GTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCC GCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCA CCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCA GCCACCCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02280.hp2 HG02717.hp1 HG02886.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0094 a0001c0004t0002g0013 a0001c0004t0002g0014 others(1): Show a0001c0001t0002g0094 a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015	4	202	0.0198	-212	c.978 others(17): Show c.978-5891_978-5680del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771780	GGACACTC others(205): Show GGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAAGAGTG GGGCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCCGCGAAGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAG AGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCAC GAGGAGTGGGACA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	193	0.0052	-212	c.978 others(17): Show c.978-5872_978-5661del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR2DL3_chr19_54733513_54758052	54755233	TGCCGATA others(205): Show TGCCGATAGGAACCTGGAGGGGAGATAGGAGCCTGGAGTGGAGATATGGG CCTGGAGGTGGAGTTATAGGCCTATAGTAGAGATATGGGCCTGGAGTGGA GATTTGGGCCAGGAGTGGAGATATGGGCCTAGAGGTGGATATCTGGGCCT AGAGTGGAAATATGGGCCTAGGATGGAGATATGGGCCTGGTTGTGGAGAT ATGGGACTGGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18967.hp2 HG02976.hp2 NA18967.hp2	a0007 a0020 a0007 a0020	a0007c0006 a0020c0016 a0007c0006 a0020c0016	a0007c0006t0005 a0020c0016t0010 a0007c0006t0005 a0020c0016t0010	a0007c0006t0005g0045 a0020c0016t0010g0040 a0007c0006t0005g0045 a0020c0016t0010g0040	2	312	0.0064	-212	c.27 others(11): Show c.2715_*2926del	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		2182		chr19	TogoVar
LMF1_chr16_848634_975984	953462	CGTCCACA others(205): Show CGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGA CACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCT CCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACA GACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAAC CAGCCTCCTACAT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0151 a0001c0011t0001g0151	1	262	0.0038	-212	c.503 others(15): Show c.503+683_503+894del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRFN5_chr14_41601876_41909549	41808349	TGAAGGAA others(205): Show TGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAGGAAGGAAGGAAAGGAA GAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGAATCGAGGGAGGGAGGG AGGACCTATAAGATTAGTTCTGGAAAAAGTATACCCAATTGTGGCCAGAC AAGGAAGGAAGGGAGGAAGGAAGGGAGGGATGGAGGAAGGAAGGGAGGGA TGAAGGAAGGAAG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02257.hp2 HG02280.hp2 others(9): Show HG01358.hp2 HG02257.hp2 HG02280.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA18942.hp1 NA18999.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004	a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0003g0263 others(9): Show a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0004g0123 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0003t0004g0133 a0001c0003t0004g0135	12	242	0.0496	-212	c.-21 others(19): Show c.-21+41346_-21+41557del	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRTM4_chr2_76742685_77527376	77307662	AATATAAA others(205): Show AATATAAATATATAGATATATCTATATATTATAGAAATATAAATATATAG ATATACCTATATATTATAGAAATATAAATATATAGATATACCTATATATT ATAGAAATATAAATATATAGATATACCTATATATTATAGAAATATAAATA TATAGATATATCTATATATTATAGAAATATAAATATATAGATATATCTAT ATATTATAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	128	0.0156	-212	c.155 others(23): Show c.1551+210444_1551+210655del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736805	CGTGTGAC others(205): Show CGTGTGACCGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTG TGACCGTCCATGTGAGCATCCGTGAGCGTGTGACCGTCCGTGTGTGACCG TCTGTGTGAGTGACCATCCATGTGAGCATCCGTGACCGTCCATGTGAGCG TGTGACCGTCCGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGTGAC CGTCCGTGTGAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(94): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0002c0002 a0002c0013 a0002c0023 a0005c0030 a0006c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0029 a0001c0004t0004 a0001c0004t0006 a0001c0004t0012 a0001c0004t0026 a0001c0005t0005 a0001c0005t0006 a0001c0005t0012 a0001c0006t0003 a0001c0009t0002 a0001c0011t0003 a0001c0012t0004 a0001c0020t0003 a0001c0021t0003 a0002c0002t0001 a0002c0002t0005 a0002c0013t0006 a0002c0023t0001 a0005c0030t0005 a0006c0018t0003	a0001c0001t0002g0245 a0001c0001t0002g0291 a0001c0001t0002g0292 others(90): Show a0001c0001t0002g0245 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0003g0199 a0001c0001t0027g0193 a0001c0003t0003g0017 a0001c0003t0003g0019 a0001c0003t0003g0132 a0001c0003t0003g0134 a0001c0003t0003g0177 a0001c0003t0003g0209 a0001c0003t0003g0210 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0217 a0001c0003t0003g0219 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0226 a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0239 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0252 a0001c0003t0003g0256 a0001c0003t0003g0266 a0001c0003t0003g0270 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0005g0004 a0001c0003t0005g0025 a0001c0003t0009g0265 a0001c0003t0009g0269 a0001c0003t0009g0271 a0001c0003t0009g0306 a0001c0003t0014g0047 a0001c0003t0015g0228 a0001c0003t0029g0268 a0001c0004t0004g0015 a0001c0004t0004g0026 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0173 a0001c0004t0004g0211 a0001c0004t0004g0284 a0001c0004t0004g0308 a0001c0004t0006g0003 a0001c0004t0006g0023 a0001c0004t0006g0031 a0001c0004t0012g0005 a0001c0004t0012g0029 a0001c0004t0026g0005 a0001c0005t0005g0194 a0001c0005t0006g0027 a0001c0005t0012g0022 a0001c0006t0003g0155 a0001c0006t0003g0181 a0001c0006t0003g0261 a0001c0009t0002g0030 a0001c0009t0002g0033 a0001c0009t0002g0034 a0001c0011t0003g0024 a0001c0011t0003g0032 a0001c0012t0004g0038 a0001c0012t0004g0039 a0001c0020t0003g0215 a0001c0021t0003g0281 a0002c0002t0001g0225 a0002c0002t0001g0255 a0002c0002t0001g0267 a0002c0002t0005g0227 a0002c0002t0005g0250 a0002c0013t0006g0003 a0002c0013t0006g0020 a0002c0023t0001g0222 a0005c0030t0005g0283 a0006c0018t0003g0221	97	327	0.2966	-212	c.603 others(17): Show c.603-6518_603-6307del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRM3_chr17_777353_797509	790707	ACCCCCCC others(205): Show ACCCCCCCACCCGCTGATTGGCCACCTCAACTGTGCCACCACACCCCCAC CGGCTGATTGGCTGGCTCACCTCCTGTGCCGCCACAGCGCCACCGCTGAT TGGCCGGCTCACCCCCTGTGCCGCCACAGCACCACCAGTGATTGGCAGGC TCACCTGTGCCACCACACCCCCACCCGCTGATTGGCCAGCTCACCTCCTG TGCCACCACACCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02451.hp2 HG02896.hp2 HG00558.hp1 HG02451.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0002c0002t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0042 a0002c0002t0001g0001	3	389	0.0077	-212	c.728 others(15): Show c.728-714_728-503del	MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MTG1_chr10_133389157_133427520	133403129	CGAGCGTT others(205): Show CGAGCGTTCCCGTCACCCCCAGTCCCTGCTCCTCCTTCGTGAAATCAAGG AAACGAGCGTTCCCGTCACCCCCAGTCCCTGCTCCTCCTTCGTGAAATCA AGGAAACGAGCGTTCCCGTCACCCCCAGTCCCTGCTCCTCCTTCGTGAAA TCAAGGAAACGAGCGTTCCCGTCACCCCCAGTCCCTGCTCCTCCTTCGTG AAATCAAGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01891.hp1 others(16): Show HG00642.hp2 HG00733.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03516.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 others(6): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0026 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048	a0001c0001t0003g0210 a0001c0001t0011g0038 a0001c0001t0011g0113 others(10): Show a0001c0001t0003g0210 a0001c0001t0011g0038 a0001c0001t0011g0113 a0001c0001t0012g0018 a0001c0001t0012g0059 a0001c0001t0014g0056 a0001c0001t0014g0212 a0001c0001t0014g0263 a0001c0001t0017g0028 a0001c0001t0026g0261 a0001c0001t0046g0211 a0001c0001t0047g0050 a0001c0001t0048g0050	19	426	0.0446	-212	c.752 others(15): Show c.752+409_752+620del	MTG1	ENSG00000148824.19	transcript	ENST00000317502.11	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(205): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp2 others(47): Show HG00323.hp2 HG00544.hp1 HG00597.hp2 HG01081.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp1 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0001c0002 a0002c0012 others(5): Show a0001c0001 a0001c0002 a0002c0012 a0003c0003 a0005c0005 a0005c0013 a0006c0009 a0010c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0002c0012t0018 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0014 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0004 a0005c0005t0008 a0005c0013t0008 a0006c0009t0007 a0010c0025t0004	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0012 others(46): Show a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0012 a0001c0001t0006g0045 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0014 a0001c0002t0001g0123 a0001c0002t0003g0109 a0002c0012t0018g0044 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0002g0085 a0003c0003t0003g0001 a0003c0003t0004g0078 a0003c0003t0004g0084 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0088 a0003c0003t0004g0091 a0003c0003t0004g0183 a0003c0003t0004g0202 a0003c0003t0004g0203 a0003c0003t0004g0297 a0003c0003t0004g0298 a0003c0003t0004g0322 a0003c0003t0014g0079 a0005c0005t0001g0089 a0005c0005t0002g0062 a0005c0005t0002g0067 a0005c0005t0002g0071 a0005c0005t0002g0073 a0005c0005t0002g0116 a0005c0005t0002g0234 a0005c0005t0003g0069 a0005c0005t0003g0090 a0005c0005t0004g0007 a0005c0005t0004g0129 a0005c0005t0008g0118 a0005c0005t0008g0119 a0005c0005t0008g0185 a0005c0013t0008g0120 a0005c0013t0008g0121 a0006c0009t0007g0060 a0006c0009t0007g0070 a0010c0025t0004g0093	50	155	0.3226	-212	c.628 others(17): Show c.628+4190_628+4401del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085762	CGTGATCT others(205): Show CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0351 a0003c0001t0001g0351	1	382	0.0026	-212	c.164 others(17): Show c.1644+382_1644+593del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086002	GTGATCTC others(205): Show GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGT GGCCCCACTGTCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02922.hp1 HG03579.hp2 others(2): Show HG01123.hp1 HG02922.hp1 HG03579.hp2 NA18966.hp1 NA19043.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0038 a0002c0006 a0002c0025 others(2): Show a0001c0038 a0002c0006 a0002c0025 a0002c0041 a0010c0056	a0001c0038t0001 a0002c0006t0001 a0002c0025t0001 others(2): Show a0001c0038t0001 a0002c0006t0001 a0002c0025t0001 a0002c0041t0001 a0010c0056t0001	a0001c0038t0001g0076 a0002c0006t0001g0392 a0002c0025t0001g0300 others(2): Show a0001c0038t0001g0076 a0002c0006t0001g0392 a0002c0025t0001g0300 a0002c0041t0001g0391 a0010c0056t0001g0089	5	348	0.0144	-212	c.164 others(17): Show c.1644+638_1644+849del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2035975	CAACAATC others(205): Show CAACAATCTCCATCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACT TCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCC TAACTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0104 a0001c0002t0024g0104	1	102	0.0098	-212	c.-15 others(21): Show c.-158+17791_-158+18002del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NDST3_chr4_118029486_118263634	118066470	TGTTATAT others(205): Show TGTTATATATTATATATACATTATATATGTTATATATTATATATACATTA TATATGTTATATATTATATATACATTATATATAATATGTTATATATTATA TATACATTATATATAACATGTTATATATTATATATACATTATATATAACA TGTTATATATTATATATACATTATATATAACATGTTATATATTATATATA CATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG01891.hp1 others(16): Show HG00738.hp2 HG01256.hp2 HG01891.hp1 HG02148.hp2 HG02451.hp2 HG02630.hp1 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18948.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0010 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0009t0003 a0001c0009t0021 a0001c0010t0003 a0001c0014t0003	a0001c0001t0001g0192 a0001c0002t0001g0004 a0001c0002t0001g0046 others(16): Show a0001c0001t0001g0192 a0001c0002t0001g0004 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0078 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0105 a0001c0002t0001g0118 a0001c0002t0001g0185 a0001c0002t0001g0197 a0001c0006t0001g0135 a0001c0006t0001g0136 a0001c0009t0003g0055 a0001c0009t0021g0076 a0001c0010t0003g0187 a0001c0010t0003g0188 a0001c0014t0003g0038	19	214	0.0888	-212	c.981 others(19): Show c.981+11580_981+11791del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535620	TGGAGAGG others(205): Show TGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGG GTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0087 a0001c0006t0004g0087	1	306	0.0033	-212	c.140 others(17): Show c.140+8192_140+8403del	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NTM_chr11_131365615_132341822	131789422	AGAAGAAG others(205): Show AGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	86	0.0116	-212	c.83- others(19): Show c.83-122141_83-121930del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
PCGF3_chr4_700832_775089	759178	CTTCTCCT others(205): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0134 a0001c0003t0053g0134	1	308	0.0032	-212	c.463 others(17): Show c.463-2048_463-1837del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759291	CTCCGGAC others(205): Show CTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0346 a0001c0001t0057g0346	1	180	0.0056	-212	c.463 others(17): Show c.463-1889_463-1678del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759513	CGGGTCTT others(205): Show CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCC GGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCT TCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCT CCTTCCGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01081.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0227 a0001c0001t0001g0205 a0001c0001t0001g0227	2	356	0.0056	-212	c.463 others(17): Show c.463-1730_463-1519del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759549	GTTCTCCT others(205): Show GTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTCTTCTCCTTCCGGACTCTGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0359 a0001c0001t0002g0359	1	182	0.0055	-212	c.463 others(17): Show c.463-1677_463-1466del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PEX5_chr12_7184686_7216459	7196714	ATATATGT others(205): Show ATATATGTCACATATAATGTAATAATTATATATGTCACATATAATGTAAT AATTATATATGTCACATATAATGTAATAATTATATATGTCACATAATGTA ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACAT ATAATGTAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	419	0.0024	-212	c.449 others(17): Show c.449-2266_449-2055del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHF2_chr9_93571584_93684587	93671167	AGTAGGTA others(205): Show AGTAGGTACAGGTGTAGATGCAGCTGTGGGTGTGGGAGTAGGCACAGGTG TAGTTGCAGGTGTGTGGGAGTAGGCACAGGTGTAGATGCAGGTGCGGGTG TGGGAGTAGGCACAGGTGCAGATGCAGATGTGGGTGTGGGAGTAGGGTCA GGTGTAGATGCAGATGTGGGTGTGGGAGTAGGGTCAGGTGTAGATGCAGG TGTGGGTGTGGAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00738.hp2 others(17): Show HG00423.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02056.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA18968.hp2 NA18999.hp2 NA19057.hp1 NA19065.hp2 NA19079.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0012 a0001c0004 a0001c0005 a0001c0012	a0001c0004t0005 a0001c0004t0010 a0001c0005t0005 others(3): Show a0001c0004t0005 a0001c0004t0010 a0001c0005t0005 a0001c0005t0010 a0001c0005t0014 a0001c0012t0005	a0001c0004t0005g0003 a0001c0004t0005g0057 a0001c0004t0005g0058 others(15): Show a0001c0004t0005g0003 a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0059 a0001c0004t0005g0061 a0001c0004t0005g0062 a0001c0004t0005g0063 a0001c0004t0005g0065 a0001c0004t0010g0004 a0001c0005t0005g0047 a0001c0005t0005g0050 a0001c0005t0010g0049 a0001c0005t0010g0052 a0001c0005t0010g0054 a0001c0005t0014g0207 a0001c0005t0014g0208 a0001c0012t0005g0010 a0001c0012t0005g0011	20	348	0.0575	-212	c.234 others(19): Show c.2349-2395_2349-2184del	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLD5_chr1_242077986_242529697	242393395	TATATATA others(205): Show TATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTA TATATATGTGTATATATATGAGTATATATATGTGTATATATGAGTATATA TATGTGTATATATGAGTATATATATATGTGTATATATGTGAGTATATATA TGTGTATATATATGAGTATATATGTGTATATATATGAGTATACATATGTG TATATATATGAGC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0015 a0001c0001t0018g0015	1	186	0.0054	-212	c.190 others(19): Show c.190-45365_190-45154del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242435283	AGTGCATG others(205): Show AGTGCATGCGCTCCCAGTTGAGGTCAAACAAGGTGACACTCTGCTCTCTC GTTTCAGCTTGGCTGCCATAATCTTTTTGTGATCTATTAGAATGCTAAAA CCACAAGGCCTTAGCATCTGTGTGTTTTTTGTTGGTAATTATACTGTTTA AAATGCCCCCCAGGTGTAGCATTGAAGTGTGTATAGTGTTCCTAAATGCC AGGAGGCTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02647.hp2 HG02717.hp1 others(1): Show HG01261.hp1 HG02647.hp2 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 others(1): Show a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0081	a0001c0001t0047g0113 a0001c0001t0049g0115 a0001c0001t0053g0112 others(1): Show a0001c0001t0047g0113 a0001c0001t0049g0115 a0001c0001t0053g0112 a0001c0001t0081g0180	4	186	0.0215	-212	c.190 others(19): Show c.190-87253_190-87042del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PPP2R3B_chrX_328933_391907	329142	TCCCCCCT others(205): Show TCCCCCCTCCCTCTCTCCCCGTCCCCCCTCTCCCCGTCCCCCCTCCCCCT CTCCCCGTCCCCCCCTCCCCCTCTCCCCGTCCCCCCCTCCCCCTCTCCCC GTCCCCCCCTCCCCCTCTCCCCGTCCCCCCCTCCCCCTCTCCCCGTCCCC CCCTCCCCCTCTCCCCGTCCCCCCCTCCCCCTCTCCCCGTCCCCCCCTCC CCCTCTCCCCGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0019 a0002c0001t0006g0019	1	24	0.0417	-212	c.50 others(11): Show c.5013_*5224del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		4790		chrX	TogoVar
RB1_chr13_48298751_48486890	48427566	TTGGGGAG others(205): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCTCCTCCA GCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCATTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCA CCTCCAGCATTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACC TCACCTCCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	270	0.0037	-212	c.169 others(21): Show c.1696-25384_1696-25173del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427725	TTGGGGAG others(205): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCA CCTCCAGCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACC TCACCTCCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	289	0.0035	-212	c.169 others(21): Show c.1696-25203_1696-24992del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427990	CTGGGGAG others(205): Show CTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCATTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCATTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCA CCTCCAGCATTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACC TCACCTCCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0251 a0002c0002t0001g0252	2	120	0.0167	-212	c.169 others(21): Show c.1696-24731_1696-24520del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RPH3A_chr12_112786748_112903881	112865584	TGCAGAGG others(205): Show TGCAGAGGGGAAAGTCCTAGGCTCCAGCTGTAGGGGTCACTGGGTCTTGG GGGTGGAGCTTGGATCCTGAAGATCACTTGCCAGGATATGGTTTTTTTCT GGGATGCTTCCATGCCCTACTGTCTTCCAACGTAACCCTGATCCTGGTTC CTCCCTGGAAGCCACTCTGAGCCTTCTGTCTCTTAGAGCTGAGCTCCATC CAGGGTGAACTAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG03195.hp2 HG02572.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0107 a0001c0003t0127 a0001c0003t0082 a0001c0003t0107 a0001c0003t0127	a0001c0003t0082g0241 a0001c0003t0107g0210 a0001c0003t0127g0212 a0001c0003t0082g0241 a0001c0003t0107g0210 a0001c0003t0127g0212	3	264	0.0114	-212	c.360 others(14): Show c.360+43_360+254del	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPTOR_chr17_80539838_80971368	80824945	GTGGGGCA others(205): Show GTGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAGGCC AGCGTGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCGCGTGGCGAG GCCAGTATGGGGCAGCCACATCCCACCTCTCCATCTAGAGGCCACGTGGC GAGGTCAGCGTGGGGCAGCCACATCCCACCTCTCTCTCTAGAGGCCACGT GGCGAGGCCAGTA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0007 a0001c0007t0084g0007	1	194	0.0052	-212	c.113 others(19): Show c.1136+1827_1136+2038del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280967	CCCTCCTG others(205): Show CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCAC CTCCCTCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0088 a0001c0024t0088	a0001c0024t0088g0272 a0001c0024t0088g0272	1	241	0.0041	-212	c.484 others(18): Show c.484+9867_484+10078del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281085	CCCTCCTG others(205): Show CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCAC CTCCCTCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02723.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02723.hp1 HG03471.hp2 NA20129.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0010 a0005c0030 a0005c0031 others(1): Show a0001c0010 a0005c0030 a0005c0031 a0011c0056	a0001c0010t0031 a0005c0030t0014 a0005c0031t0004 others(2): Show a0001c0010t0031 a0005c0030t0014 a0005c0031t0004 a0005c0031t0017 a0011c0056t0078	a0001c0010t0031g0006 a0005c0030t0014g0239 a0005c0031t0004g0255 others(2): Show a0001c0010t0031g0006 a0005c0030t0014g0239 a0005c0031t0004g0255 a0005c0031t0017g0009 a0011c0056t0078g0261	5	267	0.0187	-212	c.484 others(17): Show c.484+9749_484+9960del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281222	TCAGTCAC others(205): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGC CACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCAC CCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCT CCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0240 a0002c0002t0004g0240	1	278	0.0036	-212	c.484 others(17): Show c.484+9612_484+9823del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368474	ATATATAT others(205): Show ATATATATAAAATATATATATATTATATATATATATATAAAATATATATA TATTATATATATATATAAAATATATATATATTATATATATATAAAATATG TTATATATATATATAAAATATGTTATATATATAATATATATGTTATATAT ATATATAATATATATGTTATATATATAAAATATATATATTATATATATAT AAAATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02647.hp1 others(5): Show HG01891.hp2 HG02055.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0072 a0001c0005t0019	a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0006g0033 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0006g0033 a0001c0001t0011g0269 a0001c0001t0011g0270 a0001c0001t0072g0218 a0001c0005t0019g0267 a0001c0005t0019g0268	8	278	0.0288	-212	c.427 others(17): Show c.427+5104_427+5315del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar

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