Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(212): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0256 a0001c0002t0064g0256	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(212): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02615.hp2 HG04228.hp1 others(3): Show HG02273.hp2 HG02615.hp2 HG04228.hp1 NA18948.hp2 NA18980.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0014 a0001c0001t0002g0258 a0001c0001t0003g0266 others(3): Show a0001c0001t0001g0014 a0001c0001t0002g0258 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0009g0185 a0001c0001t0013g0257	6	308	0.0195	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(212): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02027.hp2 HG02155.hp2 others(5): Show HG01168.hp2 HG02027.hp2 HG02155.hp2 HG02738.hp1 HG02922.hp1 HG03704.hp1 NA18943.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0067	a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0254 others(5): Show a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0002g0251 a0001c0001t0002g0279 a0001c0001t0005g0211 a0001c0001t0009g0225 a0001c0001t0067g0218	8	308	0.0260	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(212): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTCCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20129.hp2 HG01884.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0023 a0001c0002t0014 a0001c0002t0023	a0001c0002t0014g0126 a0001c0002t0023g0066 a0001c0002t0014g0126 a0001c0002t0023g0066	2	308	0.0065	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTCCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0116 a0001c0006t0016g0116	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(212): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0260 a0001c0001t0013g0260	1	308	0.0033	219	c.-25 others(238): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(212): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGG AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTA TTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	260	0.0039	219	c.625 others(236): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTCGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(212): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	260	0.0039	219	c.625 others(236): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507698	G G	GGGGGGGT others(212): Show GGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTG GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18966.hp2 NA18962.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0144 a0001c0001t0001g0146	2	260	0.0077	219	c.625 others(236): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTCGGTG GGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LINGO2_chr9_27932617_29218601	28848061	A A	ATAGTGTG others(212): Show ATAGTGTGTATATATATTATATATATACACTATATATAGTGTGTATATAT ATTATATATATACACACTATATATAGTGTATATATATACTATATATACAC TATATATAGTGTGTATATATATAATATATATACACACTATATATAGTGTA TATATATATAATATATATACACACTATATATAGTGTGTATATATACTATA TACACACTATATATAGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	62	0.0161	219	c.-39 others(240): Show c.-395+99756_-395+99757insCACACTATATATAGTGTGTATATA GTATATATACACACTATATATAGTGTGTATATATATTATATATATATACA CTATATATAGTGTGTATATATATTATATATATACACACTATATATAGTGT ATATATAGTATATATATACACTATATATAGTGTGTATATATATAATATAT ATACACACTATATATAGTGTATATATATAATATATATACACACTA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(212): Show GGGGGCGGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGG GCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT GGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGG GCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT GGGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0146 a0146	a0146c0182 a0146c0182	a0146c0182t0004 a0146c0182t0004	a0146c0182t0004g0286 a0146c0182t0004g0286	1	310	0.0032	219	c.143 others(236): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LUC7L_chr16_183990_234449	187172	G G	GGGAGGAA others(212): Show GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	350	0.0029	219	c.20 others(230): Show c.2025_*2026insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1817		chr16	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(212): Show GGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGAGGGAACAGCAACACGGGGG GAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	350	0.0029	219	c.20 others(230): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTTGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1930077	T T	TCCCCACT others(212): Show TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACAA CCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGC CACGTCCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	264	0.0038	219	c.180 others(238): Show c.1807+6609_1807+6610insGACGGGGCGAGGGGGACGTGGCAGTG TGGACGTGGTGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGG CAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MADCAM1_chr19_491486_510343	497123	G G	GTGGAGGG others(212): Show GTGGAGGGGGCGCGGGAGAGAGGAGGGGGCGCGGGAGAGGGGAGGGGGCT CGGGGGAGAGGAAGGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGA AGGGAGTTAGGAGGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGG GGGGCTCAGGAGAGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAG AGGAGGGGGCGCAGGAGAGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	364	0.0028	219	c.52+ others(232): Show c.52+572_52+573insTGGAGGGGGCGCGGGAGAGAGGAGGGGGCGCG GGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGGGAG GGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGGCTCAGGAGAGGGGAGG GGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGGAGGGACGCAGGAGAGA GGAGGGGCGCAGGGGAGAGGAGGGGGCGCAGGAGAGT	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4			chr19	TogoVar
MBP_chr18_76973833_77137783	77118093	C C	CAGTGGGT others(212): Show CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAG TGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAGT GGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGG GTTGGGGTGGGATGGGGGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0381 a0001c0002t0007g0381	1	396	0.0025	219	c.-25 others(238): Show c.-25-12808_-25-12807insCTCCCCCATCCCACCCCAACCCACTG TCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTC CCCATCCCACCCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCC CCATCCCACCCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCC CATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118093	C C	CAGTGGGT others(212): Show CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAG TGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGGGTGGGATGGGGACAGT GGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGG GTTGGGGTGGGATGGGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01074.hp1 others(29): Show HG00408.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp1 HG02698.hp2 HG03704.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18948.hp1 NA18960.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0021 a0005c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0157 a0001c0001t0001g0158 others(29): Show a0001c0001t0001g0120 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0003g0151 a0001c0001t0003g0169 a0001c0001t0003g0186 a0001c0001t0004g0168 a0001c0001t0006g0325 a0001c0001t0007g0374 a0001c0001t0008g0335 a0001c0001t0008g0371 a0001c0002t0001g0110 a0001c0002t0001g0136 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0007g0360 a0001c0002t0007g0383 a0001c0002t0021g0293 a0005c0007t0001g0153	32	396	0.0808	219	c.-25 others(238): Show c.-25-12808_-25-12807insCTCCCCCATCCCACCCCAACCCACTG TCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTC CCCATCCCACCCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCC CCATCCCACCCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCC CATCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACCCACT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
METTL26_chr16_629430_641305	632057	A A	ACTCCTCC others(212): Show ACTCCTCCCACCCTCTCCTCCCATCCACTTCTCCCACCCCATCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTC TTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCT CCCATCCACTTTTTCCATCCTCTTCTCCCACCCCGTCATTGCCTCTCCTT CCATCCTCTCCTCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	219	c.25 others(230): Show c.2539_*2540insAGGGTGGGAGGAGAGGATGGAAGGAGAGGCAATG ACGGGGTGGGAGAAGAGGATGGAAAAAGTGGATGGGAGGAGTGGATAGGA GAGGATGGAAGGAGAGGCAGTGATGGGGTGGGAGAAGAGGATGGAAGAAG TGGATGGGAGGAGTGGATAGGAGAGGATGGAAGGAGAGGCAGTGATGGGG TGGGAGAAGTGGATGGGAGGAGAGGGTGGGAGGAG	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2372		chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446445	G G	GGAAGGAT others(212): Show GGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAG GAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGT GAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGA GAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAG GGAGAGGAGGAACAGGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02922.hp1 HG01243.hp2 HG01884.hp2 HG02922.hp1	a0014 a0023 a0014 a0023	a0014c0033 a0014c0070 a0023c0069 a0014c0033 a0014c0070 a0023c0069	a0014c0033t0001 a0014c0070t0001 a0023c0069t0001 a0014c0033t0001 a0014c0070t0001 a0023c0069t0001	a0014c0033t0001g0028 a0014c0070t0001g0252 a0023c0069t0001g0037 a0014c0033t0001g0028 a0014c0070t0001g0252 a0023c0069t0001g0037	3	280	0.0107	219	c.641 others(234): Show c.641+267_641+268insTCCTCCTGTTCCTCCTCTCCCTTCTCTCCC TCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTCTTCTCT CCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCCTTCTCC TCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTCTCTTCC TCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MIER2_chr19_300573_349796	304172	A A	ACTCAATA others(212): Show ACTCAATACACCAAAGCACATTCTCATCAGACTCAATACACCAAAGCACA TTCTCATCAGACACCTCAATACACCAAAGCACATCCTCATCGGACTCAAT ACACCAAAGCACATCCTCATCAGACTCCTCAATACACCAAAGCACATCCT CATCAGACTCAATACACCAAAGCACATCCTCATCAGACTCAATACACCAA AGCACATTCTCATCAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01109.hp1 others(34): Show HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG04115.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021 a0009c0026	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0002 a0001c0005t0002 a0001c0021t0014 a0009c0026t0002	a0001c0001t0002g0022 a0001c0001t0002g0150 a0001c0001t0004g0061 others(32): Show a0001c0001t0002g0022 a0001c0001t0002g0150 a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0013g0296 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0005t0002g0012 a0001c0005t0002g0109 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0021t0014g0088 a0009c0026t0002g0108	37	384	0.0964	219	c.25 others(230): Show c.2517_*2518insGTGTCTGATGAGAATGTGCTTTGGTGTATTGAGT CTGATGAGGATGTGCTTTGGTGTATTGAGTCTGATGAGGATGTGCTTTGG TGTATTGAGGAGTCTGATGAGGATGTGCTTTGGTGTATTGAGTCCGATGA GGATGTGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCTTTGGTGTA TTGAGTCTGATGAGAATGTGCTTTGGTGTATTGAG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		1400		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543381	G G	GTGAATGG others(212): Show GTGAATGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAATGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACA GTGGTGAGTGGGGACAGTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0119 a0006c0006t0003g0119	1	286	0.0035	219	c.153 others(236): Show c.1539+725_1539+726insATGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACA GTGGTGAATGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCATG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTAATGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499936	A A	AGGTGGTG others(212): Show AGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGA TGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18968.hp2 HG02129.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0114 a0001c0004t0002g0132 a0001c0004t0001g0114 a0001c0004t0002g0132	2	250	0.0080	219	c.748 others(236): Show c.748+1602_748+1603insATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTG ATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500184	A A	ATGGTGGA others(212): Show ATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGT GGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTG ATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGAGGTGGTGGT GATGGTGGAGGTGGTAGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0227 a0001c0004t0001g0227	1	250	0.0040	219	c.748 others(236): Show c.748+1839_748+1840insGAGGTGGTGGTGGTGGTGAGGGAGGTGG TGATGGGGGTGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTG GTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGG TGATGGAGGTGGTGGTGATGGTGGAGGTGGTAGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYDGF_chr19_4652545_4675342	4663121	A A	ATCCTCAT others(212): Show ATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCA TTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTCTA CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATC TACCCTCCCCATCCACCCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	410	0.0024	219	c.287 others(236): Show c.287+1754_287+1755insCGGGGTGGATGGGGAGGGTAGATTGGAG GCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGT AGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGA GGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGACA GGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543978	C C	CTGGTGGT others(212): Show CTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTG CTGGTGGTGGTGGTGGTGGTGATGGTGGTGCTGGTGGTGGTGCTGGTGGT GCTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	342	0.0029	219	c.152 others(236): Show c.1524+318_1524+319insCCACCACCACCACCACCAGCACCACCAG CACCACCACCAGCACCACCATCACCACCACCACCACCACCAGCACCACCA CCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCACCAGCAC CACCACCACCACCAGCACCACCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYT1L_chr2_1784113_2336275	2115771	G G	GTGCTGTG others(212): Show GTGCTGTGCAGTTGAGGAAGCTGAGGCTGAGAAGTAGGATGCACCACGTC CAGTCGATGAAAACAGGACGAGCCTGCTGTGCAGTTGAGGAAGCTGAGGT TGAGAAGTAGGATGCACCACGTCCAGTCGATGAAAACAGGACGAGCCTGC TGTGCAGTTGAGGAAGCTGAGGCTGAGAAGTAGGATGCACCACGTCCAGT CGATGAAAACAGGACGAGCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0066 a0001c0004t0012g0066	1	104	0.0096	219	c.-30 others(240): Show c.-304+57100_-304+57101insGGCTCGTCCTGTTTTCATCGACTG GACGTGGTGCATCCTACTTCTCAGCCTCAGCTTCCTCAACTGCACAGCAG GCTCGTCCTGTTTTCATCGACTGGACGTGGTGCATCCTACTTCTCAACCT CAGCTTCCTCAACTGCACAGCAGGCTCGTCCTGTTTTCATCGACTGGACG TGGTGCATCCTACTTCTCAGCCTCAGCTTCCTCAACTGCACAGCA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
NEU4_chr2_241804193_241822413	241806988	A A	ACTCTCCC others(212): Show ACTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	319	0.0031	219	c.-22 others(230): Show c.-2290_-2289insCTCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79427478	C C	CGCTGGCC others(212): Show CGCTGGCCTCTGTGCGGTGGGTCGGGGGAAGCTGGACGGCTGGCCTCTGT GCAGTGGGTGGGGGGAGCTGGATGGCTGGCCTCTGTGCAGTGGGTCGGGG GGAGCTGGATGGCTGGCCTCTGTGCAGTGGGTGGGGGGAGCTGGATGGCT GGCCTCTGTGCAGTGGGTGGGGGGAGCTGGATGGCTGGCCTCTGTGCAGT GGGTCGGGGGGAGCTGGATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0002g0300 a0001c0004t0002g0301	2	322	0.0062	219	c.122 others(238): Show c.1227-6101_1227-6100insGCTGGCCTCTGTGCGGTGGGTCGGGG GAAGCTGGACGGCTGGCCTCTGTGCAGTGGGTGGGGGGAGCTGGATGGCT GGCCTCTGTGCAGTGGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTGCAG TGGGTGGGGGGAGCTGGATGGCTGGCCTCTGTGCAGTGGGTGGGGGGAGC TGGATGGCTGGCCTCTGTGCAGTGGGTCGGGGGGAGCTGGATG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9			chr18	TogoVar
NHERF2_chr16_2021902_2044026	2034314	G G	GCGTCCCA others(212): Show GCGTCCCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGG ACTCCTGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTG CTCCACCTCCCCTCCCGAACTGGACTCCTGTCCCCACGCCTTCCCTCCGT CCCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGACTC CTGTCCCCACGCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG02132.hp1 HG01106.hp2 HG01168.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0154 a0001c0001t0015g0059 a0001c0001t0001g0154 a0001c0001t0015g0059	3	422	0.0071	219	c.415 others(236): Show c.415-1960_415-1742dupACTCCTGTCCCCACGCCTTCCCTCCGTC CCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGACTCC TGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTGCTCCA CCTCCCCTCCCGAACTGGACTCCTGTCCCCACGCCTTCCCTCCGTCCCAG GCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGG	NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NHERF2_chr16_2021902_2044026	2034364	A A	ACTCCTGT others(212): Show ACTCCTGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTG CTCCACCTCCCCTCCCGAACTGGACTCCTGTCCCCACGCCTTCCCTCCGT CCCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGACTC CTGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTGCTCC ACCTCCCCTCCCGAACTGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG02922.hp2 others(1): Show HG02717.hp1 HG02896.hp2 HG02922.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0038 a0004c0005t0005	a0001c0001t0002g0207 a0001c0001t0005g0208 a0001c0001t0038g0206 others(1): Show a0001c0001t0002g0207 a0001c0001t0005g0208 a0001c0001t0038g0206 a0004c0005t0005g0211	4	422	0.0095	219	c.415 others(236): Show c.415-1814_415-1596dupACTCCTGTCCCCACGCCTTCCCTCCGTC CCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGGCTCC TGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTGCTCCA CCTCCCCTCCCGAACTGGACTCCTGTCCCCACGCCTTCCCTCCGTCCCAG GCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGG	NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NHS_chrX_17370200_17740994	17589650	A A	AGTGAGTA others(212): Show AGTGAGTATCTTTTTCTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0162 a0003c0006t0001g0162	1	164	0.0061	219	c.566 others(238): Show c.566-98077_566-98076insTTTTTTTTTTTTTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGAGTATCTTTTTC	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NLGN1_chr3_173392744_174299372	173857671	T T	TATTGGGC others(212): Show TATTGGGCTACATTGAGCATCTTCAGGGTGTTACTCTTTCCTTATTTTAC TATCCAAGAGCTCCAGAATCCCTTTATTCCCCATCCCAAGGCCACTTAAA AAATTACTAAGTGAACAATTACTAAAAATTGCTACTAGAATGAATATATT TAAAAATATGCTTAAATTTCAGTATTGTCCTATACAAAACCATTTCTCTT CGTAGGAAGAGAACTATTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0019 a0001c0001t0038g0019	1	44	0.0227	219	c.706 others(238): Show c.706+50060_706+50278dupTTGGGCTACATTGAGCATCTTCAGGG TGTTACTCTTTCCTTATTTTACTATCCAAGAGCTCCAGAATCCCTTTATT CCCCATCCCAAGGCCACTTAAAAAATTACTAAGTGAACAATTACTAAAAA TTGCTACTAGAATGAATATATTTAAAAATATGCTTAAATTTCAGTATTGT CCTATACAAAACCATTTCTCTTCGTAGGAAGAGAACTATTTCA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(212): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGACAGAAAGAAAGAA AGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAG ACAGAAAGAAAGACAGAAAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0086 a0002c0007t0001g0086	1	440	0.0023	219	c.319 others(234): Show c.319+282_319+283insCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CTGTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993496	C C	CCCTCTCC others(212): Show CCCTCTCCCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCCTCT CCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0011 a0006c0041t0011	a0006c0041t0011g0077 a0006c0041t0011g0077	1	350	0.0029	219	c.55 others(230): Show c.5583_*5584insCCTCTCCCCCCCCTCCCCCACCTCTCCCCCCTCT CCCCCCCTCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCC CCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4868		chr19	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(212): Show AAAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0112 a0001c0004t0002g0112	1	208	0.0048	219	c.-10 others(240): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(212): Show AAAAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	208	0.0048	219	c.-10 others(240): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRXN3_chr14_78165373_79873291	79257448	A A	ATGGTGGT others(212): Show ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0010 a0001c0007t0002g0010	1	24	0.0417	219	c.326 others(242): Show c.3263-209753_3263-209752insATGGTGGTGGTGGTGGTGGTAG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUP93_chr16_56725129_56855286	56808256	T T	TATATAGT others(212): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	378	0.0027	219	c.489 others(236): Show c.489+2634_489+2635insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808256	T T	TATATAGT others(212): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	378	0.0027	219	c.489 others(236): Show c.489+2634_489+2635insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808281	T T	TATATAGT others(212): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 NA18953.hp1 HG02056.hp2 HG02071.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0339 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0339	3	378	0.0079	219	c.489 others(236): Show c.489+2659_489+2660insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808331	T T	TATATAGT others(212): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	378	0.0027	219	c.489 others(236): Show c.489+2709_489+2710insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808356	T T	TATATAGT others(212): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01515.hp2 HG01517.hp1 others(2): Show HG00735.hp1 HG01515.hp2 HG01517.hp1 HG03098.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	5	378	0.0132	219	c.489 others(236): Show c.489+2734_489+2735insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(212): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0158 a0001c0017t0001g0158	1	378	0.0027	219	c.489 others(236): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ODF3_chr11_191761_205258	196530	G G	GGGGACAT others(212): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTTG GTGAGGGGACCTGGTGAGGGGAACCTGGTGAGGGGAACCTGGTGAGGGGA CATGGTGAGGGGAGCATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0001 a0008c0011t0004g0001	1	388	0.0026	219	c.-52 others(228): Show c.-525_-524insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACCTGGTGAGGGGAA CCTGGTGAGGGGACATGGTGAGGGGAGCATGGT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		230		chr11	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(212): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	426	0.0024	219	c.33 others(230): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTTTTTTGACAATAAA GTTTTCATTGTGATCACACTACAGAAAAAAATACCTTCTGTTCTTTGCAA AAAATGTGCGAAGGCCAAATCTGTGTTTTTCTTTTCTAAAAAAAAGGATG TTGCATGAGTTACAATGCAACCAGTATCTTTTTGTTTCTGCACTTGTTAA AAAATCATTTGATTTTTTAACAATTTGCCATTTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar

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