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
GRIN1_chr9_137134154_137173756	137145101	GGGGGTCC others(106): Show GGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGGACCGGGGTG AGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTGTGGGGAC CGGGGTGAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19090.hp2 HG00741.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0091 a0001c0001t0001g0106	2	296	0.0068	-113	c.394 others(15): Show c.394-620_394-508del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GTPBP4_chr10_983434_1024932	1015597	GCTGGGGT others(106): Show GCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGC TGAGCACTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCACTGA GCCTGGGAGTGGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0167 a0001c0002t0045g0167	1	218	0.0046	-113	c.160 others(16): Show c.1609-134_1609-22del		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
HINT3_chr6_125951770_125985244	125962199	TATATATA others(106): Show TATATATATATACACATATATATATATATATATATACACATATATATATA TACACACATATATATATATATACATACATATATATATACACATATATATA TATATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	266	0.0038	-113	c.202 others(17): Show c.202-4676_202-4564del		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HRC_chr19_49146198_49160396	49156859	CTCTCTGG others(106): Show CTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCT CTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGT CTCTGTCCCCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0017 a0017	a0017c0054 a0017c0054	a0017c0054t0001 a0017c0054t0001	a0017c0054t0001g0079 a0017c0054t0001g0079	1	402	0.0025	-113	c.-17 others(11): Show c.-1735_-1623del		HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding					1464		chr19	TogoVar
HSD17B11_chr4_87331515_87396188	87378850	ATATATAA others(106): Show ATATATAAATATATATAAATATATATATATAAATATATATATATAAATAT ATATAAATATATATATATAAATATATATAAATATATATATATATATATTT ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp1 HG02615.hp2 others(6): Show HG01192.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008	a0001c0002t0001g0284 a0001c0003t0002g0036 a0001c0003t0004g0350 others(6): Show a0001c0002t0001g0284 a0001c0003t0002g0036 a0001c0003t0004g0350 a0001c0003t0004g0351 a0001c0003t0008g0279 a0001c0003t0008g0280 a0001c0003t0008g0281 a0001c0003t0008g0282 a0001c0003t0008g0283	9	384	0.0234	-113	c.318 others(17): Show c.318+3292_318+3404del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
IDI2_chr10_1013910_1030859	1015597	GCTGGGGT others(106): Show GCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGC TGAGCACTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCACTGA GCCTGGGAGTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0012 a0003c0010t0012	a0003c0010t0012g0067 a0003c0010t0012g0067	1	239	0.0042	-113	c.38 others(11): Show c.3807_*3919del		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding					3312		chr10	TogoVar
IGSF9B_chr11_133891438_133961968	133932575	GAGACAGA others(106): Show GAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGAC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0045 a0009c0030t0045	a0009c0030t0045g0241 a0009c0030t0045g0241	1	318	0.0031	-113	c.968 others(15): Show c.968-475_968-363del		IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19						chr11	TogoVar
INAFM1_chr19_47269885_47280723	47279141	AAATACAA others(106): Show AAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTTGTAGTCCCAGCT ACTCGGGAGGCTGAGGTGAGAGGATTGCTTGGAGGTCAAGGTTGCAGTGA GCTGTGACTGTACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0000 a0007c0006t0001g0000	1	392	0.0026	-113	c.37 others(11): Show c.3794_*3906del		INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding					3419		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79828967	ATGTGGGT others(106): Show ATGTGGGTGTCTATGTGTGCGTGTGTGTAACATGTCCATGATGTGTGCAT GTGTCTGTGTGTGGGTGTCTATGTGTGCGTGTGTGTAACGTGTCTGTGTG TGCATGTGTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(87): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0001c0001t0001g0102 a0001c0009t0001g0166 a0002c0002t0001g0001 others(86): Show a0001c0001t0001g0102 a0001c0009t0001g0166 a0002c0002t0001g0001 a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0114 a0002c0002t0001g0123 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0195 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0268 a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0078 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0113 a0002c0002t0002g0122 a0002c0002t0002g0159 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0238 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0264 a0002c0002t0002g0270 a0002c0002t0002g0283 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0310 a0002c0004t0001g0004 a0002c0004t0001g0039 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0060 a0002c0004t0001g0089 a0002c0004t0001g0137 a0002c0004t0001g0140 a0002c0004t0001g0142 a0002c0004t0001g0151 a0002c0004t0001g0157 a0002c0004t0001g0254 a0002c0004t0001g0287 a0002c0004t0001g0306	90	310	0.2903	-113	c.-11 others(21): Show c.-114-27323_-114-27211del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79885899	GGACAGGG others(106): Show GGACAGGGAGATGGGGATGGGAACATGGGACGTGGGGACAGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGA ACATGGGGACACAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01258.hp1 HG02148.hp2 others(6): Show HG00673.hp1 HG01258.hp1 HG02148.hp2 HG02273.hp2 HG02451.hp1 HG04228.hp1 NA18951.hp1 NA19005.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0004c0008t0004 a0001c0001t0001 a0001c0001t0002 a0004c0008t0004	a0001c0001t0001g0007 a0001c0001t0001g0228 a0001c0001t0001g0256 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0228 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0002g0199 a0004c0008t0004g0017	9	310	0.0290	-113	c.625 others(19): Show c.625-13115_625-13003del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KLHL17_chr1_955584_970719	964575	GGCTGTGG others(106): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG03209.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0009 a0001c0008t0003 a0001c0008t0010 a0001c0001t0009 a0001c0008t0003 a0001c0008t0010	a0001c0001t0009g0014 a0001c0008t0003g0024 a0001c0008t0010g0051 a0001c0001t0009g0014 a0001c0008t0003g0024 a0001c0008t0010g0051	7	397	0.0176	-113	c.170 others(16): Show c.1700+50_1700+162del		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL17_chr1_955584_970719	964631	CGGGTCCG others(106): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG02717.hp2 others(7): Show HG01192.hp2 HG01515.hp2 HG02717.hp2 HG02970.hp1 HG03130.hp1 NA18947.hp1 NA18989.hp2 NA19057.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0004t0004	a0001c0001t0001g0001 a0001c0001t0002g0020 a0001c0001t0004g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0020 a0001c0001t0004g0003 a0001c0002t0003g0002 a0001c0004t0004g0003	10	394	0.0254	-113	c.170 others(17): Show c.1700+102_1700+214del		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11						chr1	TogoVar
KLHL17_chr1_955584_970719	964661	GGGGGGCG others(106): Show GGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGG TCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGG ATGTGCTGCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18994.hp2 HG03831.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	428	0.0047	-113	c.170 others(17): Show c.1700+137_1701-184del		KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
LIPG_chr18_49557057_49604185	49579008	GGGAGAGG others(106): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0105 a0001c0001t0034g0105	1	376	0.0027	-113	c.794 others(17): Show c.794-2404_794-2292del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	960366	CAGACTCA others(106): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0025 a0001c0004t0016g0025	1	292	0.0034	-113	c.194 others(17): Show c.194-5813_194-5701del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LRRC27_chr10_132327193_132386508	132358505	CAGCGTGG others(106): Show CAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTAGGGAGG AGCCGAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01891.hp2 others(16): Show HG00323.hp2 HG00735.hp2 HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03471.hp1 HG03704.hp2 HG06807.hp2 NA19030.hp1 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0007 a0001c0011 others(3): Show a0001c0003 a0001c0007 a0001c0011 a0001c0013 a0002c0004 a0006c0012	a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 others(4): Show a0001c0003t0006 a0001c0003t0007 a0001c0007t0007 a0001c0011t0001 a0001c0013t0007 a0002c0004t0011 a0006c0012t0006	a0001c0003t0006g0001 a0001c0003t0006g0089 a0001c0003t0006g0090 others(15): Show a0001c0003t0006g0001 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0092 a0001c0003t0006g0099 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0006g0107 a0001c0003t0007g0097 a0001c0003t0007g0102 a0001c0003t0007g0104 a0001c0007t0007g0096 a0001c0007t0007g0098 a0001c0011t0001g0110 a0001c0013t0007g0091 a0002c0004t0011g0017 a0002c0004t0011g0018 a0006c0012t0006g0109	19	286	0.0664	-113	c.117 others(19): Show c.1170+2702_1171-2757del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358609	GAGGTGGT others(106): Show GAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAG GAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGT GTGGGGAGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG01243.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0069 a0001c0001t0005g0070	2	272	0.0074	-113	c.117 others(19): Show c.1170+2736_1171-2723del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358814	GGAGCGTG others(106): Show GGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAG GTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAG GAGCCGAGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18966.hp2 HG00741.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0159 a0001c0001t0001g0178	2	286	0.0070	-113	c.117 others(19): Show c.1171-2638_1171-2526del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358847	CGTAGGGA others(106): Show CGTAGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGC CAAGGTGGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0097 a0001c0003t0007g0097	1	248	0.0040	-113	c.117 others(19): Show c.1171-2607_1171-2495del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358899	GAGCAGTG others(106): Show GAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCA AGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGC CGAGGTGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0016 a0002c0004t0011g0016	1	273	0.0037	-113	c.117 others(19): Show c.1171-2554_1171-2442del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358926	TAGAGCAG others(106): Show TAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGA GGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGA GCCGAGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 NA18998.hp2 HG02559.hp1 HG02572.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0011 a0001c0001t0002 a0002c0004t0011	a0001c0001t0002g0186 a0002c0004t0011g0017 a0002c0004t0011g0018 a0001c0001t0002g0186 a0002c0004t0011g0017 a0002c0004t0011g0018	3	286	0.0105	-113	c.117 others(19): Show c.1171-2530_1171-2418del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10						chr10	TogoVar
LRRC27_chr10_132327193_132386508	132359021	GAGGAGCC others(106): Show GAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGC AGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGT GGTGGAGCGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	283	0.0035	-113	c.117 others(19): Show c.1171-2422_1171-2310del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867143	GGGTGTGT others(106): Show GGGTGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGT GTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGGTG TGTGTTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02559.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0006 a0001c0005t0004 a0001c0005t0006	a0001c0005t0004g0191 a0001c0005t0004g0193 a0001c0005t0004g0322 others(1): Show a0001c0005t0004g0191 a0001c0005t0004g0193 a0001c0005t0004g0322 a0001c0005t0006g0085	4	406	0.0099	-113	c.130 others(16): Show c.1309-210_1309-98del		LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRTM4_chr2_76742685_77527376	77135746	TTGAAGGC others(106): Show TTGAAGGCTTAAAAAATATCTTGAAAGCTAGACCCCTGAAACTAACTACT ACAAATGTGAAAACCACAAGGAAATATATAGCAATTCAATGTAAGAAGAA TGTAATAAGTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	128	0.0078	-113	c.155 others(23): Show c.1551+382459_1551+382571del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LUZP2_chr11_24492053_25087638	25030902	TATAATAT others(106): Show TATAATATATATTGTATTATATATATATAATATATATTATATATATTATA TATATAATACAATATATATTATATATATATAATACAATATATATTATATA TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	114	0.0088	-113	c.766 others(19): Show c.766-19135_766-19023del		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11						chr11	TogoVar
MACROD2_chr20_13990516_16058197	14831921	CTTGGGGA others(106): Show CTTGGGGATGCATTCTGACTATATTGGGTCCCCTTGAGACCAGTGTTGCA ACCAAAAGAAGCAGAGAAGATGTAGTCCCTACCCTCCCGCACCTCGACTT CATGCCTTTGCGAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0010 a0001c0001t0001 a0002c0002t0010	a0001c0001t0001g0004 a0002c0002t0010g0007 a0001c0001t0001g0004 a0002c0002t0010g0007	2	24	0.0833	-113	c.418 others(21): Show c.418+146965_418+147077del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2058877	GGGGCTAG others(106): Show GGGGCTAGAGTGGGAGTGTGGCCAGGGGAGAGGCGCAGGGCTGGAGAGGG AGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCTAGAGTGGGAGTGTGGCC AGGGGAGAGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	259	0.0039	-113	c.121 others(21): Show c.1218+10204_1218+10316del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18						chr7	TogoVar
MBTPS1_chr16_84048763_84121942	84050852	CGCATGTG others(106): Show CGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGA GAGCTGCAAGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(26): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG02080.hp1 HG02735.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG06807.hp2 NA18944.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0041 a0001c0002t0003 a0001c0002t0010 a0001c0002t0013 a0001c0003t0042	a0001c0001t0003g0378 a0001c0001t0007g0206 a0001c0001t0007g0207 others(24): Show a0001c0001t0003g0378 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0208 a0001c0001t0012g0226 a0001c0001t0041g0315 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0358 a0001c0002t0003g0359 a0001c0002t0003g0360 a0001c0002t0003g0361 a0001c0002t0003g0362 a0001c0002t0003g0364 a0001c0002t0003g0365 a0001c0002t0003g0366 a0001c0002t0003g0367 a0001c0002t0003g0368 a0001c0002t0003g0371 a0001c0002t0003g0373 a0001c0002t0003g0374 a0001c0002t0003g0380 a0001c0002t0010g0234 a0001c0002t0013g0173 a0001c0002t0013g0174 a0001c0002t0013g0175 a0001c0003t0042g0316	29	422	0.0687	-113	c.34 others(11): Show c.3484_*3596del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2910		chr16	TogoVar
MGAM_chr7_141990879_142111747	142043314	ATTATATA others(106): Show ATTATATATACATATAATATCTAAATATAATATCTATATTATATATACAT ATAATATCTAAATATAATATCTATATTATATATACATATAATATCTAAAT ATAATATCTATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00609.hp2 others(43): Show HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01516.hp1 HG01928.hp1 HG02071.hp2 HG02300.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18951.hp1 NA18957.hp1 NA18957.hp2 NA18983.hp2 NA18986.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19007.hp1 NA19058.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0012 others(4): Show a0001 a0002 a0012 a0014 a0015 a0030 a0031	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0021 a0001c0048 a0001c0057 a0002c0008 a0002c0016 a0002c0020 a0012c0029 a0014c0034 a0015c0031 a0030c0033 a0031c0036	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0021t0001 a0001c0048t0001 a0001c0057t0001 a0002c0008t0001 a0002c0016t0001 a0002c0020t0001 a0012c0029t0001 a0014c0034t0001 a0015c0031t0001 a0030c0033t0001 a0031c0036t0001	a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0130 others(43): Show a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0205 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0117 a0001c0002t0001g0176 a0001c0002t0001g0188 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0003t0001g0270 a0001c0006t0001g0051 a0001c0006t0001g0071 a0001c0006t0001g0165 a0001c0006t0001g0167 a0001c0006t0001g0172 a0001c0006t0001g0177 a0001c0021t0001g0126 a0001c0021t0001g0127 a0001c0048t0001g0215 a0001c0057t0001g0222 a0002c0008t0001g0152 a0002c0016t0001g0106 a0002c0016t0001g0173 a0002c0016t0001g0185 a0002c0020t0001g0131 a0012c0029t0001g0291 a0012c0029t0001g0292 a0014c0034t0001g0179 a0015c0031t0001g0267 a0030c0033t0001g0101 a0031c0036t0001g0183	46	296	0.1554	-113	c.249 others(19): Show c.2498+2469_2498+2581del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70						chr7	TogoVar
MINK1_chr17_4828340_4903061	4879032	GGGAGCCG others(106): Show GGGAGCCGCTGCAGCAGGGAGTGAGGTGGCCTGACCACTGCTCACACTTG GATTGTGGGAGCCGCTGCAGCAGGGAGTGAGGTGGCCTGACCACTGCTGA CACTTGGATTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18979.hp2 NA18980.hp1 HG02155.hp2 NA18979.hp2 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0011 a0003c0003t0003g0027 a0003c0003t0003g0073 a0003c0003t0003g0011 a0003c0003t0003g0027 a0003c0003t0003g0073	3	358	0.0084	-113	c.123 others(15): Show c.123+692_123+804del		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MTMR1_chrX_150688396_150770108	150769674	TGCCTGCG others(106): Show TGCCTGCGCCACCAGGCCTCGGCTGCTCCCCGACCCCAGCAAGCCTTTCC GGACCTCCTCATTGGCATCCCGTGGGCACAGGTCATATCTGCCTCGAGCA GTTGGGCACTCTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00642.hp1 others(34): Show HG00408.hp2 HG00544.hp2 HG00642.hp1 HG01074.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG03491.hp2 HG03492.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18960.hp1 NA18965.hp1 NA18975.hp1 NA18980.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19055.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0120 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0143	37	266	0.1391	-113	c.69 others(11): Show c.6946_*7058del		MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding					4567		chrX	TogoVar
NCAPG2_chr7_158626169_158709804	158667870	CCTTACCC others(106): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTG GGTCCCTCCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	371	0.0027	-113	c.148 others(19): Show c.1480-3233_1480-3121del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668083	ACTGGGTC others(106): Show ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGC CTTCCTTACCGACC	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	336	0.0030	-113	c.147 others(19): Show c.1479+3318_1480-3334del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668100	TCCTTACC others(106): Show TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCC TCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTG GGTCCCTCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03225.hp2 HG02630.hp2 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0227 a0001c0005t0001g0229 a0001c0005t0001g0231 a0001c0005t0001g0227 a0001c0005t0001g0229 a0001c0005t0001g0231	3	163	0.0184	-113	c.147 others(19): Show c.1479+3301_1480-3351del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668126	CCCTCCTT others(106): Show CCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTC CCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACT ACTGGGTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01069.hp2 HG01071.hp1 HG01496.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0001 a0001c0001t0001 a0010c0017t0001	a0001c0001t0001g0006 a0010c0017t0001g0355 a0001c0001t0001g0006 a0010c0017t0001g0355	3	371	0.0081	-113	c.147 others(19): Show c.1479+3275_1480-3377del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241807299	CTCCCGCC others(106): Show CTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACC CGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG02148.hp1 others(2): Show HG00733.hp2 HG01106.hp1 HG02148.hp1 HG02809.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0004t0001g0111 a0001c0004t0001g0160 others(2): Show a0001c0001t0001g0001 a0001c0004t0001g0111 a0001c0004t0001g0160 a0002c0003t0002g0140 a0002c0003t0002g0173	5	316	0.0158	-113	c.-19 others(11): Show c.-1978_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1893		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807332	CCTTCCCT others(106): Show CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCC CCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01975.hp1 HG01261.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0004 a0001c0002t0001g0079	2	317	0.0063	-113	c.-19 others(11): Show c.-1945_-1833del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1860		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807335	TCCCTCCC others(106): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0036	1	316	0.0032	-113	c.-19 others(11): Show c.-1942_-1830del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1857		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807693	TCCCTCCC others(106): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	317	0.0032	-113	c.-15 others(11): Show c.-1584_-1472del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1499		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807962	CGCAGGCC others(106): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTA GCCCAGGGACCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	194	0.0052	-113	c.-13 others(11): Show c.-1315_-1203del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1230		chr2	TogoVar
NFE2L3_chr7_26147198_26192137	26176780	AGGCAGAG others(106): Show AGGCAGAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCT CCTCACTTCCCAGACGATGGGTGGCCGGGCAGAGGCACTCCTCACCTCCC AGACGGGGCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01169.hp1 others(2): Show HG00738.hp1 HG01069.hp1 HG01169.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0172 a0001c0001t0001g0001 a0001c0001t0001g0172	5	398	0.0126	-113	c.571 others(17): Show c.571-1144_571-1032del		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NLRP8_chr19_55942832_55993629	55993494	CCCTCCCC others(106): Show CCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCT CCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0128	1	343	0.0029	-113	c.55 others(11): Show c.5582_*5694del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4866		chr19	TogoVar
NPIPB11_chr16_29376310_29411711	29383304	TCGGCAGT others(106): Show TCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGC	T T	frameshift_variant frameshift_variant	HIGH	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0362 a0004c0004t0003g0362	1	426	0.0023	-113	c.151 others(9): Show c.1515_1627del	p.Pro others(5): Show p.Pro506fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4374/6369	1515/3486	505/1161			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30223954	TCGGCAGG others(106): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGC	T T	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02486.hp1 HG02896.hp2 HG03834.hp1 NA18939.hp2 NA18943.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19003.hp1 NA19062.hp1 NA19079.hp1 NA19088.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0008 a0038	a0001c0001 a0001c0002 a0001c0017 others(5): Show a0001c0001 a0001c0002 a0001c0017 a0003c0018 a0007c0009 a0007c0020 a0008c0008 a0038c0034	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0017t0001 a0003c0018t0022 a0007c0009t0001 a0007c0020t0002 a0008c0008t0003 a0038c0034t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0049 others(28): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0010g0011 a0001c0001t0013g0016 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0003g0096 a0001c0002t0017g0025 a0001c0002t0018g0043 a0001c0002t0019g0042 a0001c0017t0001g0047 a0003c0018t0022g0143 a0007c0009t0001g0060 a0007c0020t0002g0116 a0008c0008t0003g0112 a0008c0008t0003g0113 a0038c0034t0001g0039	31	144	0.2153	-113	c.237 others(9): Show c.2379_2491del	p.Pro others(5): Show p.Pro794fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5234/6292	2379/3417	793/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835391	TCGGCAGG others(106): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGC	T T	frameshift_variant frameshift_variant	HIGH	HG02451.hp2 HG02451.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0039 a0015c0014t0001g0039	1	204	0.0049	-113	c.288 others(9): Show c.2883_2995del	p.Pro others(5): Show p.Pro962fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3210/4020	2883/3669	961/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835517	TCGGCAGG others(106): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGC	T T	frameshift_variant frameshift_variant	HIGH	HG01934.hp1 HG01975.hp1 HG02559.hp2 others(4): Show HG01934.hp1 HG01975.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG03017.hp1	a0004 a0014 a0035 others(2): Show a0004 a0014 a0035 a0043 a0044	a0004c0065 a0014c0022 a0014c0056 others(3): Show a0004c0065 a0014c0022 a0014c0056 a0035c0059 a0043c0027 a0044c0039	a0004c0065t0001 a0014c0022t0001 a0014c0056t0001 others(3): Show a0004c0065t0001 a0014c0022t0001 a0014c0056t0001 a0035c0059t0001 a0043c0027t0001 a0044c0039t0001	a0004c0065t0001g0090 a0014c0022t0001g0074 a0014c0022t0001g0075 others(4): Show a0004c0065t0001g0090 a0014c0022t0001g0074 a0014c0022t0001g0075 a0014c0056t0001g0049 a0035c0059t0001g0083 a0043c0027t0001g0078 a0044c0039t0001g0040	7	196	0.0357	-113	c.275 others(9): Show c.2757_2869del	p.Pro others(5): Show p.Pro920fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3084/4020	2757/3669	919/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835643	TCGGCAGG others(106): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGC	T T	frameshift_variant frameshift_variant	HIGH	HG03453.hp2 NA18747.hp1 NA18964.hp1 others(1): Show HG03453.hp2 NA18747.hp1 NA18964.hp1 NA18971.hp1	a0004 a0046 a0004 a0046	a0004c0006 a0004c0015 a0046c0046 a0004c0006 a0004c0015 a0046c0046	a0004c0006t0001 a0004c0015t0001 a0046c0046t0001 a0004c0006t0001 a0004c0015t0001 a0046c0046t0001	a0004c0006t0001g0044 a0004c0006t0001g0094 a0004c0015t0001g0095 others(1): Show a0004c0006t0001g0044 a0004c0006t0001g0094 a0004c0015t0001g0095 a0046c0046t0001g0047	4	201	0.0199	-113	c.263 others(9): Show c.2631_2743del	p.Pro others(5): Show p.Pro878fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2958/4020	2631/3669	877/1222			chr16	TogoVar
NXN_chr17_794310_984776	942705	CATCACAC others(106): Show CATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCAT GAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTG CAGCCATGAACTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	240	0.0042	-113	c.360 others(19): Show c.360+36501_360+36613del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	948933	CCCCCCTG others(106): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGGCTC CTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCC CTGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	235	0.0043	-113	c.360 others(19): Show c.360+30273_360+30385del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPH1_chr7_8428609_8757961	8757454	CAGGTCAG others(106): Show CAGGTCAGGGATAAATGGAGCTATAACGTAATTCAGAATTACTCAAGATT CCTTCACAGGAATCTCATTTCAGGGAAATACTACTGCATGCTTAGGAAAC TTTCAGCAACGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	208	0.0048	-113	c.56 others(11): Show c.5686_*5798del		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding					4494		chr7	TogoVar

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