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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LRRTM4_chr2_76742685_77527376	77307682	TCTATATA others(98): Show TCTATATATTATAGAAATATAAATATATAGATATACCTATATATTATAGA AATATAAATATATAGATATACCTATATATTATAGAAATATAAATATATAG ATATAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	103	0.0097	-105	c.155 others(23): Show c.1551+210531_1551+210635del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LSS_chr21_46183446_46233774	46183621	TGGGGGAG others(98): Show TGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCC TGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCA GCTTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	356	0.0028	-105	c.73 others(11): Show c.7378_*7482del		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding					4824		chr21	TogoVar
LUZP2_chr11_24492053_25087638	25047311	TTAAGAAT others(98): Show TTAAGAATAGTATTGTTTTTATTTTTTTTATTTTTTTTTTTTTTACTTTT TAATTTTCTTTTTTTTATTTTTTTTAATTTTTTTTAATTTTTTTTTTATT ATACTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01106.hp1 others(45): Show HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp1 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18981.hp2 NA19030.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0034 a0001c0001t0038 a0002c0002t0009 a0002c0007t0028 a0004c0005t0002 a0005c0006t0029	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 others(45): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0095 a0001c0001t0003g0114 a0001c0001t0004g0105 a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0051 a0001c0001t0006g0086 a0001c0001t0007g0035 a0001c0001t0007g0047 a0001c0001t0007g0115 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0008g0103 a0001c0001t0012g0082 a0001c0001t0012g0107 a0001c0001t0016g0033 a0001c0001t0016g0088 a0001c0001t0034g0053 a0001c0001t0038g0034 a0002c0002t0009g0116 a0002c0007t0028g0068 a0004c0005t0002g0087 a0005c0006t0029g0058	48	116	0.4138	-105	c.766 others(17): Show c.766-2719_766-2615del		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6E_chr8_143013529_143027409	143014928	GGAGGAGG others(98): Show GGAGGAGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGG GAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTC CTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	-105	c.-37 others(11): Show c.-3715_-3611del		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3600		chr8	TogoVar
LYPD8_chr1_248734415_248760759	248742599	TCGGGGGA others(98): Show TCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATG CTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGATGT TGGCAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	367	0.0027	-105	c.475 others(17): Show c.475+2438_475+2542del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
MAGEC1_chrX_141898894_141914374	141905825	TTGAGTAT others(98): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGG TTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCA CTTTAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19009.hp1 NA19009.hp1	a0104 a0104	a0104c0065 a0104c0065	a0104c0065t0001 a0104c0065t0001	a0104c0065t0001g0001 a0104c0065t0001g0001	1	356	0.0028	-105	c.484 others(7): Show c.484_588del	p.Val others(13): Show p.Val162_Ser196del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	770/4256	484/3429	162/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905984	CCCCAGTC others(98): Show CCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTT ATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA18998.hp2	a0103 a0103	a0103c0134 a0103c0134	a0103c0134t0001 a0103c0134t0001	a0103c0134t0001g0002 a0103c0134t0001g0002	1	356	0.0028	-105	c.591 others(7): Show c.591_695del	p.Leu others(13): Show p.Leu198_Pro232del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	877/4256	591/3429	197/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906098	CCTCTCCA others(98): Show CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCT TTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCC AGTCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG02074.hp1 HG02080.hp2 others(5): Show HG00438.hp2 HG02074.hp1 HG02080.hp2 HG02293.hp2 HG03491.hp1 NA18992.hp1 NA19056.hp1 NA20129.hp2	a0007 a0072 a0113 a0007 a0072 a0113	a0007c0007 a0072c0119 a0113c0070 a0007c0007 a0072c0119 a0113c0070	a0007c0007t0001 a0072c0119t0002 a0113c0070t0005 a0007c0007t0001 a0072c0119t0002 a0113c0070t0005	a0007c0007t0001g0001 a0072c0119t0002g0006 a0113c0070t0005g0003 a0007c0007t0001g0001 a0072c0119t0002g0006 a0113c0070t0005g0003	8	351	0.0228	-105	c.722 others(7): Show c.722_826del	p.Ser others(13): Show p.Ser241_Ser275del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906126	CCTCCTCC others(98): Show CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	-105	c.736 others(7): Show c.736_840del	p.Leu others(13): Show p.Leu246_Leu280del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1022/4256	736/3429	246/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906140	CTGAGTCT others(98): Show CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19065.hp1 NA19065.hp1	a0107 a0107	a0107c0099 a0107c0099	a0107c0099t0001 a0107c0099t0001	a0107c0099t0001g0002 a0107c0099t0001g0002	1	293	0.0034	-105	c.755 others(7): Show c.755_859del	p.Phe others(13): Show p.Phe252_Ser286del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906380	ACTCACAG others(98): Show ACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTAT GACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTG AGAGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG02257.hp2 HG01070.hp2 HG01071.hp1 HG02257.hp2	a0036 a0069 a0036 a0069	a0036c0033 a0069c0088 a0036c0033 a0069c0088	a0036c0033t0001 a0069c0088t0001 a0036c0033t0001 a0069c0088t0001	a0036c0033t0001g0001 a0069c0088t0001g0001 a0036c0033t0001g0001 a0069c0088t0001g0001	3	357	0.0084	-105	c.981 others(8): Show c.981_1085del	p.His others(13): Show p.His327_Ala361del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1267/4256	981/3429	327/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906700	AAGTGCTT others(98): Show AAGTGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCT CCTCTTTCTCCTACACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGA ACTCAC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp2 HG02257.hp2	a0069 a0069	a0069c0088 a0069c0088	a0069c0088t0001 a0069c0088t0001	a0069c0088t0001g0001 a0069c0088t0001g0001	1	357	0.0028	-105	c.130 others(9): Show c.1300_1404del	p.Ala others(13): Show p.Ala434_Ser468del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1586/4256	1300/3429	434/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAX_chr14_65070127_65107517	65092985	GCAGATGT others(98): Show GCAGATGTTTTCTCCAAATTCCAGGGAGTGACCCTAACCCATAGGCTTTT ACTCAAAGCTTCTAATTTTGTTTTTCAAATGTAGAAACAGCTGGTGCCTA GCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	380	0.0026	-105	c.171 others(15): Show c.171+618_171+722del		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4						chr14	TogoVar
MBD3L4_chr19_7032749_7045179	7034936	ATAATTAT others(98): Show ATAATTATATTTATATATTATATTTATATAATTATATGTAATATATTTAA TTATATAATATAATTATATAATATATACGTATATTACATAATTATGATAT ATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(32): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02922.hp1 HG02976.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18983.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	35	262	0.1336	-105	c.28 others(11): Show c.2820_*2924del		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					2812		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035882	ATATAATA others(98): Show ATATAATATAATTCTATAACATATAAATTATATTATATATAATATAATTA TATAACATATAAATTATATTATATATAATATAATTATATAACATATAAAT TATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	237	0.0042	-105	c.18 others(11): Show c.1874_*1978del		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1866		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034936	ATAATTAT others(98): Show ATAATTATATTTATATATTATATTTATATAATTATATGTAATATATTTAA TTATATAATATAATTATATAATATATACGTATATTACATAATTATGATAT ATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02015.hp2 others(25): Show HG00544.hp1 HG00609.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02273.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03669.hp2 HG04184.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA19011.hp2 NA19058.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 a0001c0001 a0001c0020 a0002c0002	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0001c0001t0001 a0001c0020t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0020t0001g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0020t0001g0002 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0044	28	248	0.1129	-105	c.20 others(11): Show c.2043_*2147del		MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding					1926		chr19	TogoVar
MECOM_chr3_169078507_169668712	169472475	AAGGAAAG others(98): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAA AAGAAAAGAAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGA GAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02965.hp2 others(1): Show HG02451.hp1 HG02622.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0012t0001	a0001c0001t0001g0137 a0001c0001t0002g0036 a0001c0001t0015g0050 others(1): Show a0001c0001t0001g0137 a0001c0001t0002g0036 a0001c0001t0015g0050 a0001c0012t0001g0136	4	160	0.0250	-105	c.38- others(17): Show c.38-91056_38-90952del		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MECOM_chr3_169078507_169668712	169472547	GGAAAAGA others(98): Show GGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGAAAAGGAAAGGAAA GGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	155	0.0065	-105	c.38- others(17): Show c.38-91128_38-91024del		MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16						chr3	TogoVar
MGRN1_chr16_4619826_4695972	4648738	ACTCTTCC others(98): Show ACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTC CCGGGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0045 a0001c0001t0022g0045	1	307	0.0033	-105	c.89- others(15): Show c.89-1597_89-1493del		MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
MLPH_chr2_237482251_237560322	237543612	TGGGGGAC others(98): Show TGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGG TGAGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	184	0.0054	-105	c.153 others(18): Show c.1539+958_1539+1062del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545037	GTGAGTGG others(98): Show GTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATT ATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAA TAGTTA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA20752.hp1 HG01071.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0195 a0001c0001t0001g0200	2	284	0.0070	-105	c.154 others(19): Show c.1540-1552_1540-1448del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787586	CATATATA others(98): Show CATATATATATTATATATTATATATATCATATATACATATATATTATATA TATTATATATATCATATATACATATATATTATATATATTATATATACATA TATATT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0089 a0089	a0089c0114 a0089c0114	a0089c0114t0001 a0089c0114t0001	a0089c0114t0001g0041 a0089c0114t0001g0041	1	322	0.0031	-105	c.277 others(17): Show c.277-1902_277-1798del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195775576	CATACCTT others(98): Show CATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCC ACACCG	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	248	0.0040	-105	c.129 others(21): Show c.12944-1376_12944-1272del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775637	ATACCTTC others(98): Show ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCGATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCA CACCCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 NA18948.hp1 others(4): Show HG02895.hp2 HG03579.hp2 NA18948.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA19055.hp2	a0001 a0079 a0094 others(3): Show a0001 a0079 a0094 a0104 a0112 a0116	a0001c0086 a0001c0091 a0079c0133 others(4): Show a0001c0086 a0001c0091 a0079c0133 a0094c0043 a0104c0084 a0112c0042 a0116c0039	a0001c0086t0001 a0001c0091t0001 a0079c0133t0001 others(4): Show a0001c0086t0001 a0001c0091t0001 a0079c0133t0001 a0094c0043t0001 a0104c0084t0001 a0112c0042t0001 a0116c0039t0001	a0001c0086t0001g0118 a0001c0091t0001g0138 a0079c0133t0001g0016 others(4): Show a0001c0086t0001g0118 a0001c0091t0001g0138 a0079c0133t0001g0016 a0094c0043t0001g0033 a0104c0084t0001g0102 a0112c0042t0001g0131 a0116c0039t0001g0112	7	248	0.0282	-105	c.129 others(21): Show c.12944-1437_12944-1333del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775967	ATACCTTC others(98): Show ATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACATCCATACCTTCCACGGCCATAACTTCCACACCCATACCTTCCA CACCCT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03831.hp2 HG02083.hp1 HG03831.hp2	a0005 a0011 a0005 a0011	a0005c0016 a0011c0059 a0005c0016 a0011c0059	a0005c0016t0001 a0011c0059t0001 a0005c0016t0001 a0011c0059t0001	a0005c0016t0001g0085 a0011c0059t0001g0079 a0005c0016t0001g0085 a0011c0059t0001g0079	2	248	0.0081	-105	c.129 others(21): Show c.12944-1767_12944-1663del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195776426	ACACCCAT others(98): Show ACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACC CATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACACCCATAC CTTCCG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03710.hp1 NA18990.hp1 others(1): Show HG02523.hp1 HG03710.hp1 NA18990.hp1 NA19004.hp2	a0001 a0005 a0025 others(1): Show a0001 a0005 a0025 a0096	a0001c0001 a0005c0016 a0025c0081 others(1): Show a0001c0001 a0005c0016 a0025c0081 a0096c0115	a0001c0001t0001 a0005c0016t0001 a0025c0081t0001 others(1): Show a0001c0001t0001 a0005c0016t0001 a0025c0081t0001 a0096c0115t0001	a0001c0001t0001g0199 a0005c0016t0001g0045 a0025c0081t0001g0127 others(1): Show a0001c0001t0001g0199 a0005c0016t0001g0045 a0025c0081t0001g0127 a0096c0115t0001g0140	4	226	0.0177	-105	c.129 others(21): Show c.12943+1772_12943+1876del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195777242	ATACCTTC others(98): Show ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01069.hp1 others(12): Show HG00140.hp2 HG00558.hp1 HG01069.hp1 HG01071.hp2 HG01433.hp1 HG02015.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02698.hp1 NA18971.hp1 NA18984.hp1 NA18988.hp1 NA19003.hp1	a0001 a0009 a0012 others(4): Show a0001 a0009 a0012 a0017 a0107 a0113 a0114	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0001c0019 a0001c0062 a0001c0091 a0009c0038 a0012c0013 a0017c0015 a0107c0057 a0113c0080 a0114c0083	a0001c0001t0001 a0001c0003t0001 a0001c0007t0002 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0002 a0001c0019t0002 a0001c0062t0001 a0001c0091t0001 a0009c0038t0001 a0012c0013t0001 a0017c0015t0001 a0107c0057t0001 a0113c0080t0001 a0114c0083t0001	a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0003t0001g0025 others(12): Show a0001c0001t0001g0072 a0001c0001t0001g0114 a0001c0003t0001g0025 a0001c0003t0001g0048 a0001c0007t0002g0038 a0001c0019t0002g0136 a0001c0019t0002g0137 a0001c0062t0001g0069 a0001c0091t0001g0138 a0009c0038t0001g0076 a0012c0013t0001g0090 a0017c0015t0001g0065 a0107c0057t0001g0086 a0113c0080t0001g0103 a0114c0083t0001g0099	15	248	0.0605	-105	c.129 others(20): Show c.12943+956_12943+1060del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(98): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03831.hp2 HG00738.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0031 a0001c0001t0010g0034 a0001c0001t0002g0031 a0001c0001t0010g0034	2	312	0.0064	-105	c.628 others(17): Show c.628+4213_628+4317del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA7_chr17_76674566_76715965	76706222	CCCACTCT others(98): Show CCCACTCTGCCGTCACAGAGGCCCACTCTGCCATCACAGAGGCCCACGCT GCCGTCACAGAGGCCCACGCTGCCGTCACAGAGGCCCACGCTGCCATCAC AAAGGA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	414	0.0024	-105	c.342 others(17): Show c.342+4278_342+4382del		MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3						chr17	TogoVar
MXRA7_chr17_76674566_76715965	76706233	GTCACAGA others(98): Show GTCACAGAGGCCCACTCTGCCATCACAGAGGCCCACGCTGCCGTCACAGA GGCCCACGCTGCCGTCACAGAGGCCCACGCTGCCATCACAAAGGACCACG CTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03669.hp2 NA18522.hp2 others(1): Show HG02132.hp2 HG03669.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0266 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0266 a0001c0001t0008g0265	4	361	0.0111	-105	c.342 others(17): Show c.342+4267_342+4371del		MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3						chr17	TogoVar
MYT1L_chr2_1784113_2336275	2035628	CGGGTGCA others(98): Show CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCCCCCTC CAATGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0065 a0001c0013t0005g0065	1	102	0.0098	-105	c.-15 others(21): Show c.-158+18245_-158+18349del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
NBPF10_chr1_146059711_146149804	146149235	GATCAGAG others(98): Show GATCAGAGACCTAAAGGTAGGTGGTAAAATTATAAATCACTTAGAAATAG TAAATCTTTGTAATGTGGGATAAGCAAAGTTTTCACAAATATGACTGAAA GCACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0112 a0008c0006t0002g0112	1	282	0.0035	-105	c.-45 others(11): Show c.-4571_-4467del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding					4432		chr1	TogoVar
NELL2_chr12_44503278_44881315	44683318	GGCTGAGA others(98): Show GGCTGAGACAATGGGGTTTTCTAGATATACTATCATGTCGTCTGCAAACA GGGACAATTTGACTTCCTCTTTTCCTGATTGAATACCCTTTATTTCCTTC TCCTGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02055.hp1 others(11): Show HG01109.hp1 HG01884.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0063 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0144 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0002t0004g0020	14	156	0.0897	-105	c.131 others(21): Show c.1319-17814_1319-17710del		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	12/19						chr12	TogoVar
NEU4_chr2_241804193_241822413	241805561	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	278	0.0036	-105	c.-37 others(11): Show c.-3716_-3612del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3631		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805674	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	278	0.0036	-105	c.-36 others(11): Show c.-3603_-3499del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3518		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806140	GACCTCCG others(98): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	306	0.0033	-105	c.-31 others(11): Show c.-3137_-3033del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3052		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806157	CTCCCCCC others(98): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG01358.hp1 others(10): Show HG00438.hp1 HG01168.hp2 HG01358.hp1 HG02165.hp2 HG02809.hp1 NA18612.hp1 NA18952.hp1 NA18952.hp2 NA18982.hp1 NA18995.hp2 NA19000.hp2 NA19057.hp2 NA19064.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0016 others(1): Show a0001c0001 a0001c0004 a0001c0016 a0010c0010	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0016t0001 a0010c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0003g0011 a0001c0001t0003g0188 a0001c0004t0001g0006 a0001c0004t0001g0015 a0001c0004t0001g0111 a0001c0016t0001g0070 a0010c0010t0001g0001	13	305	0.0426	-105	c.-31 others(11): Show c.-3120_-3016del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3035		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806196	CCCCTCAG others(98): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	306	0.0033	-105	c.-30 others(11): Show c.-3081_-2977del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2996		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806650	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG04228.hp2 HG01346.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0002t0001g0004 a0001c0001t0001g0009 a0001c0002t0001g0004	2	291	0.0069	-105	c.-26 others(11): Show c.-2627_-2523del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(98): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01346.hp1 NA18940.hp2 HG01168.hp2 HG01346.hp1 NA18940.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0005c0009t0001 a0001c0001t0001 a0001c0001t0003 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0003g0188 a0005c0009t0001g0003 a0001c0001t0001g0009 a0001c0001t0003g0188 a0005c0009t0001g0003	3	285	0.0105	-105	c.-23 others(11): Show c.-2359_-2255del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2274		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656377	AAGCCCAC others(98): Show AAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTC CGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGAAGCCCACCTTC TCCCGC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0165 a0001c0001t0149g0165	1	353	0.0028	-105	c.-16 others(21): Show c.-163-18143_-163-18039del		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	233012958	AATGGATG others(98): Show AATGGATGGGTGGTAATCTCCTTTCCTACCTGTCCTAGCGGTAGCCTCTG TTCCTTCTCTTGTTTTATCTCATTTTATTTTTTTAAAAAATACCAAAACC ATTCTC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0359 a0001c0002t0034g0359	1	360	0.0028	-105	c.-75 others(13): Show c.-75+5_-75+109del		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993509	CCCCCTCC others(98): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCTC CCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	333	0.0030	-105	c.55 others(11): Show c.5597_*5701del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4881		chr19	TogoVar
NPHP4_chr1_5857811_5997425	5971739	CGCCACTG others(98): Show CGCCACTGCCATACATTTGGAAAGGAACATTCTCTACATCAACTGAAACT GCACTATTAAAAGGTTAAGTCAAGCCCATCAAATCGCCTGCAGGGCAAGG TCACTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0005 a0014c0022t0005	a0014c0022t0005g0207 a0014c0022t0005g0207	1	208	0.0048	-105	c.280 others(17): Show c.280-2585_280-2481del		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
NXNL1_chr19_17450425_17465926	17463798	AAGGAGAA others(98): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0033 a0003c0003t0003g0033	1	406	0.0025	-105	c.-30 others(11): Show c.-3034_-2930del		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2873		chr19	TogoVar
OPCML_chr11_132409981_133537501	133140910	AGAAGAAG others(98): Show AGAAGAAGAAGACGACGACGACGAAGAAGAAGAAGACGACGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAC GACGAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	55	0.0182	-105	c.62- others(19): Show c.62-198005_62-197901del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140990	AAGAAGAA others(98): Show AAGAAGAAGACGACGACGACGACGACGACGACGACGACGACGACGACGAC GACGACGACGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	42	0.0238	-105	c.62- others(19): Show c.62-198085_62-197981del		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510932	TGTATATC others(98): Show TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTATA TCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTATA TGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0016 a0001c0002t0026g0016	1	244	0.0041	-105	c.894 others(17): Show c.894-7219_894-7115del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PAH_chr12_102831889_102922244	102848267	AGGACACC others(98): Show AGGACACCAGGAGACTGGAGAGGTTAAGTGTAGACAGGACACCAGGAGAC TGGAGAGGTGGAGGGTAGACAGGATACCAGGAGACTGAAGAGGTGGAGGG TAGACG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02145.hp2 others(16): Show HG01496.hp1 HG01891.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0006t0002 a0001c0006t0004 a0001c0008t0001 a0001c0008t0018 a0001c0014t0003	a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(16): Show a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0025g0229 a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 a0001c0006t0004g0292 a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 a0001c0008t0018g0210 a0001c0014t0003g0256	19	312	0.0609	-105	c.913 others(17): Show c.913-1421_913-1317del		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	8/12						chr12	TogoVar
PDE1A_chr2_182135041_182432036	182385704	GCTCTCCC others(98): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG02647.hp2 others(5): Show HG01081.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019	a0001c0001t0003g0048 a0001c0001t0008g0023 a0001c0001t0008g0261 others(5): Show a0001c0001t0003g0048 a0001c0001t0008g0023 a0001c0001t0008g0261 a0001c0001t0013g0046 a0001c0001t0015g0008 a0001c0001t0015g0047 a0001c0001t0015g0049 a0001c0001t0019g0234	8	43	0.1860	-105	c.53+ others(17): Show c.53+40769_53+40873del		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14						chr2	TogoVar

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