Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01515.hp2 HG01978.hp1 others(8): Show HG01070.hp1 HG01515.hp2 HG01978.hp1 HG02004.hp1 HG02602.hp1 NA18941.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0078 a0001c0001t0001 a0001c0001t0078	a0001c0001t0001g0001 a0001c0001t0078g0144 a0001c0001t0001g0001 a0001c0001t0078g0144	11	368	0.0299	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGAAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115445	G G	GTATATAT others(21): Show GTATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18747.hp1 HG02056.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0119 a0001c0001t0001g0130	2	448	0.0045	28	c.7- others(41): Show c.7-549_*7-548insTATATATATATATACATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NWD1_chr19_16714847_16822953	16736189	C C	CTTCGTTC others(21): Show CTTCGTTCCTTCTTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG03139.hp2 HG02615.hp2 HG03130.hp2 HG03139.hp2	a0004 a0008 a0046 a0004 a0008 a0046	a0004c0005 a0008c0010 a0046c0062 a0004c0005 a0008c0010 a0046c0062	a0004c0005t0006 a0008c0010t0010 a0046c0062t0030 a0004c0005t0006 a0008c0010t0010 a0046c0062t0030	a0004c0005t0006g0225 a0008c0010t0010g0131 a0046c0062t0030g0250 a0004c0005t0006g0225 a0008c0010t0010g0131 a0046c0062t0030g0250	3	300	0.0100	28	c.82- others(41): Show c.82-442_82-441insGTTCCTTCTTTCCTTCCTTCCTTCTTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(21): Show TTTCCTTCTTTCCTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03453.hp2 NA18906.hp2 HG02293.hp1 HG03453.hp2 NA18906.hp2	a0019 a0021 a0033 a0019 a0021 a0033	a0019c0024 a0021c0026 a0033c0052 a0019c0024 a0021c0026 a0033c0052	a0019c0024t0001 a0021c0026t0002 a0033c0052t0001 a0019c0024t0001 a0021c0026t0002 a0033c0052t0001	a0019c0024t0001g0251 a0021c0026t0002g0083 a0033c0052t0001g0254 a0019c0024t0001g0251 a0021c0026t0002g0083 a0033c0052t0001g0254	3	300	0.0100	28	c.82- others(41): Show c.82-434_82-433insTTTCCTTCTTTCCTTCCTTCCTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG00642.hp2 others(53): Show HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18954.hp2 NA18980.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0038 a0039 a0047	a0001c0002 a0002c0001 a0003c0003 others(20): Show a0001c0002 a0002c0001 a0003c0003 a0003c0006 a0003c0059 a0004c0005 a0004c0009 a0005c0004 a0006c0015 a0007c0012 a0008c0010 a0009c0028 a0009c0029 a0009c0068 a0009c0069 a0010c0039 a0012c0017 a0013c0018 a0014c0054 a0016c0019 a0038c0049 a0039c0057 a0047c0055	a0001c0002t0003 a0002c0001t0001 a0002c0001t0003 others(31): Show a0001c0002t0003 a0002c0001t0001 a0002c0001t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0006t0002 a0003c0006t0038 a0003c0059t0015 a0004c0005t0001 a0004c0005t0018 a0004c0005t0023 a0004c0009t0008 a0004c0009t0009 a0005c0004t0002 a0006c0015t0006 a0006c0015t0041 a0007c0012t0001 a0007c0012t0019 a0008c0010t0002 a0009c0028t0002 a0009c0028t0034 a0009c0029t0002 a0009c0068t0040 a0009c0069t0043 a0010c0039t0001 a0012c0017t0002 a0013c0018t0017 a0013c0018t0022 a0014c0054t0025 a0016c0019t0016 a0038c0049t0042 a0039c0057t0026 a0047c0055t0037	a0001c0002t0003g0144 a0001c0002t0003g0163 a0002c0001t0001g0164 others(53): Show a0001c0002t0003g0144 a0001c0002t0003g0163 a0002c0001t0001g0164 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0003g0162 a0003c0003t0001g0210 a0003c0003t0002g0006 a0003c0003t0002g0060 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0085 a0003c0003t0002g0089 a0003c0003t0004g0026 a0003c0003t0004g0062 a0003c0003t0004g0073 a0003c0006t0002g0027 a0003c0006t0002g0061 a0003c0006t0002g0072 a0003c0006t0002g0082 a0003c0006t0002g0086 a0003c0006t0002g0096 a0003c0006t0038g0106 a0003c0059t0015g0037 a0004c0005t0001g0296 a0004c0005t0018g0256 a0004c0005t0023g0094 a0004c0005t0023g0095 a0004c0009t0008g0205 a0004c0009t0009g0052 a0005c0004t0002g0074 a0006c0015t0006g0290 a0006c0015t0006g0293 a0006c0015t0041g0053 a0007c0012t0001g0232 a0007c0012t0019g0292 a0008c0010t0002g0114 a0009c0028t0002g0115 a0009c0028t0034g0258 a0009c0029t0002g0297 a0009c0029t0002g0298 a0009c0068t0040g0116 a0009c0069t0043g0299 a0010c0039t0001g0161 a0012c0017t0002g0038 a0013c0018t0017g0294 a0013c0018t0017g0295 a0013c0018t0022g0124 a0014c0054t0025g0118 a0016c0019t0016g0003 a0016c0019t0016g0004 a0038c0049t0042g0054 a0039c0057t0026g0202 a0047c0055t0037g0088	56	300	0.1867	28	c.82- others(41): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16819379	C C	CACACATA others(21): Show CACACATACATATGTATATATGTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG01358.hp1 others(13): Show HG01167.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01975.hp1 HG02074.hp2 HG02293.hp2 HG03041.hp2 NA18747.hp1 NA18951.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA19070.hp2 NA19074.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0015	a0001c0002 a0002c0001 a0003c0003 others(2): Show a0001c0002 a0002c0001 a0003c0003 a0005c0004 a0015c0020	a0001c0002t0005 a0001c0002t0007 a0002c0001t0001 others(7): Show a0001c0002t0005 a0001c0002t0007 a0002c0001t0001 a0002c0001t0005 a0002c0001t0014 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0005c0004t0002 a0015c0020t0045	a0001c0002t0005g0130 a0001c0002t0005g0192 a0001c0002t0005g0287 others(13): Show a0001c0002t0005g0130 a0001c0002t0005g0192 a0001c0002t0005g0287 a0001c0002t0007g0030 a0001c0002t0007g0041 a0002c0001t0001g0260 a0002c0001t0005g0184 a0002c0001t0005g0241 a0002c0001t0005g0244 a0002c0001t0005g0246 a0002c0001t0014g0238 a0003c0003t0003g0143 a0003c0003t0005g0141 a0003c0003t0007g0064 a0005c0004t0002g0039 a0015c0020t0045g0121	16	300	0.0533	28	c.43 others(39): Show c.4340_*4341insACACATACATATGTATATATGTATATAT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding		1427		chr19	TogoVar
NWD1_chr19_16714847_16822953	16819385	T T	TACATATG others(21): Show TACATATGTATATATGTATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0198 a0001c0002t0012g0198	1	300	0.0033	28	c.43 others(39): Show c.4346_*4347insACATATGTATATATGTATATATACACAC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding		1433		chr19	TogoVar
NWD1_chr19_16714847_16822953	16819413	T T	TACATATG others(21): Show TACATATGTATATATGTATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00639.hp1 others(37): Show HG00280.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02698.hp2 HG03195.hp2 HG03490.hp1 HG03710.hp1 HG03927.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18993.hp2 NA19007.hp2 NA19009.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19080.hp1 NA19087.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0010 a0025 a0029 a0031	a0001c0002 a0001c0033 a0002c0001 others(10): Show a0001c0002 a0001c0033 a0002c0001 a0002c0007 a0003c0003 a0003c0006 a0005c0004 a0005c0016 a0008c0010 a0010c0039 a0025c0034 a0029c0038 a0031c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0012 a0001c0033t0002 a0002c0001t0001 a0002c0001t0002 a0002c0007t0001 a0002c0007t0002 a0003c0003t0002 a0003c0003t0004 a0003c0006t0002 a0005c0004t0002 a0005c0016t0002 a0008c0010t0047 a0010c0039t0001 a0025c0034t0001 a0029c0038t0015 a0031c0030t0001	a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0181 others(37): Show a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0201 a0001c0002t0001g0271 a0001c0002t0001g0291 a0001c0002t0002g0007 a0001c0002t0002g0010 a0001c0002t0002g0031 a0001c0002t0002g0063 a0001c0002t0002g0123 a0001c0002t0011g0105 a0001c0002t0012g0178 a0001c0002t0012g0203 a0001c0033t0002g0012 a0002c0001t0001g0164 a0002c0001t0001g0171 a0002c0001t0001g0180 a0002c0001t0001g0197 a0002c0001t0001g0242 a0002c0001t0002g0043 a0002c0007t0001g0221 a0002c0007t0002g0122 a0003c0003t0002g0068 a0003c0003t0002g0076 a0003c0003t0002g0085 a0003c0003t0002g0089 a0003c0003t0004g0026 a0003c0006t0002g0072 a0003c0006t0002g0082 a0005c0004t0002g0074 a0005c0004t0002g0103 a0005c0004t0002g0120 a0005c0016t0002g0081 a0008c0010t0047g0005 a0010c0039t0001g0161 a0025c0034t0001g0133 a0029c0038t0015g0055 a0031c0030t0001g0158	40	300	0.1333	28	c.43 others(39): Show c.4374_*4375insACATATGTATATATGTATATATACACAC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding		1461		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(21): Show TAATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03239.hp1 HG01192.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0017	2	408	0.0049	28	c.25 others(39): Show c.2557_*2558insTATATATATATATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	408	0.0025	28	c.25 others(39): Show c.2531_*2532insAAAAAAAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	810035	G G	GTGTGAGT others(21): Show GTGTGAGTGGCATGCACGTTACGAGTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02723.hp2 others(1): Show HG01884.hp1 HG02145.hp1 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0175 others(1): Show a0001c0001t0003g0027 a0001c0001t0003g0065 a0001c0001t0003g0175 a0001c0001t0003g0198	4	242	0.0165	28	c.821 others(45): Show c.821-4789_821-4788insGGGACTCGTAACGTGCATGCCACTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810063	C C	CTGTGAGT others(21): Show CTGTGAGTGGCGTGCACGTTACGAGTCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00735.hp1 others(53): Show HG00323.hp2 HG00544.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01192.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02109.hp1 HG02135.hp2 HG02273.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18964.hp2 NA18970.hp1 NA18972.hp2 NA18983.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0002t0004 a0001c0002t0032 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0006t0005 a0001c0007t0001 a0001c0011t0004 a0004c0008t0002	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0025 others(53): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0003g0130 a0001c0001t0006g0172 a0001c0001t0007g0023 a0001c0001t0007g0040 a0001c0001t0016g0001 a0001c0001t0019g0004 a0001c0001t0022g0151 a0001c0001t0024g0011 a0001c0001t0029g0134 a0001c0001t0033g0241 a0001c0002t0004g0016 a0001c0002t0004g0043 a0001c0002t0004g0228 a0001c0002t0032g0242 a0001c0004t0001g0235 a0001c0004t0002g0232 a0001c0004t0007g0233 a0001c0006t0005g0080 a0001c0007t0001g0089 a0001c0011t0004g0234 a0004c0008t0002g0150	56	242	0.2314	28	c.821 others(45): Show c.821-4844_821-4817dupCGGACTCGTAACGTGCACGCCACTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810107	C C	CGTTACGA others(21): Show CGTTACGAGTCCGTGTGAGTGGCGTGCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	242	0.0041	28	c.821 others(45): Show c.821-4861_821-4860insATGCACGCCACTCACACGGACTCGTAAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	810112	C C	CGAGTCCG others(21): Show CGAGTCCGTGTGAGTGGCGTGCACGTTAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	242	0.0041	28	c.821 others(45): Show c.821-4866_821-4865insATAACGTGCACGCCACTCACACGGACTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	884223	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	242	0.0041	28	c.361 others(47): Show c.361-58146_361-58145insATTTATTTATTTATTTATTTATTTAT TT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0241 a0001c0001t0033g0241	1	242	0.0041	28	c.-39 others(39): Show c.-3934_-3933insGTGTGTATATATATATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE3_chr3_101774211_101833231	101805867	A A	AAATTATT others(21): Show AAATTATTATTGTACAATAATAATTATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	380	0.0026	28	c.849 others(45): Show c.849-1176_849-1149dupTGTACAATAATAATTATATAATTATTAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(21): Show TATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	380	0.0026	28	c.922 others(45): Show c.922+1730_922+1731insATATATATATACACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(21): Show TATATATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02523.hp2 HG02300.hp1 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0012 a0001c0002t0002 a0002c0003t0012	a0001c0002t0002g0319 a0002c0003t0012g0174 a0001c0002t0002g0319 a0002c0003t0012g0174	2	380	0.0053	28	c.922 others(45): Show c.922+1730_922+1731insATATATATATATACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH2_chr2_138664157_138785390	138707096	A A	AAAAAAAA others(21): Show AAAAAAAAAAACAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0315 a0001c0003t0002g0315	1	350	0.0029	28	c.52- others(45): Show c.52-35432_52-35431insGTTTTTTTTTTTTTTTTGTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225518546	A A	ATATATAT others(21): Show ATATATATATATAAATTAGCTTGTGAGCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	192	0.0052	28	c.523 others(45): Show c.523+4886_523+4887insAATTAGCTTGTGAGCTTATATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01081.hp2 others(1): Show HG00280.hp2 HG01081.hp1 HG01081.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0032 a0001c0003t0003 a0001c0001t0001 a0001c0001t0032 a0001c0003t0003	a0001c0001t0001g0024 a0001c0001t0001g0102 a0001c0001t0032g0124 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0102 a0001c0001t0032g0124 a0001c0003t0003g0033	4	192	0.0208	28	c.161 others(47): Show c.1618+6482_1618+6483insAATATATATATATATATATATATATA TA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02970.hp2 HG02165.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0002 a0001c0001t0021 a0001c0004t0002	a0001c0001t0021g0172 a0001c0004t0002g0139 a0001c0001t0021g0172 a0001c0004t0002g0139	2	192	0.0104	28	c.161 others(47): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT AT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02723.hp2 HG02055.hp1 HG02451.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0019 a0001c0003t0003g0033 a0001c0003t0005g0190 a0001c0003t0003g0019 a0001c0003t0003g0033 a0001c0003t0005g0190	3	192	0.0156	28	c.161 others(49): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OAT_chr10_124392303_124423923	124402048	G G	GTTATTTA others(21): Show GTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	382	0.0026	28	c.901 others(43): Show c.901-210_901-209insATAAATAAATAAATAAATAAATAAATAA	OAT	ENSG00000065154.12	transcript	ENST00000368845.6	protein_coding	7/9			chr10	TogoVar
OBSCN_chr1_228203044_228383876	228331407	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	320	0.0031	28	c.185 others(49): Show c.18524-1431_18524-1404dupTATATATATATATATATATATATA TATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBSCN_chr1_228203044_228383876	228364158	C C	CACAGTGC others(21): Show CACAGTGCCCTCCCCAAGGACTGCACGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp1 others(115): Show HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18964.hp1 NA18970.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0008 others(58): Show a0003 a0004 a0008 a0012 a0015 a0018 a0019 a0023 a0024 a0025 a0026 a0027 a0028 a0030 a0031 a0038 a0039 a0040 a0041 a0043 a0045 a0048 a0062 a0064 a0066 a0074 a0076 a0081 a0087 a0088 a0089 a0090 a0093 a0094 a0096 a0113 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0150 a0151 a0155 a0163 a0164 a0167	a0003c0003 a0003c0029 a0003c0127 others(75): Show a0003c0003 a0003c0029 a0003c0127 a0003c0128 a0003c0129 a0003c0130 a0004c0006 a0004c0013 a0004c0123 a0004c0150 a0004c0151 a0008c0027 a0008c0035 a0008c0085 a0008c0086 a0012c0018 a0012c0163 a0015c0007 a0018c0019 a0019c0017 a0023c0024 a0023c0066 a0024c0037 a0024c0154 a0025c0014 a0026c0012 a0027c0016 a0028c0196 a0028c0197 a0030c0038 a0031c0160 a0031c0184 a0038c0033 a0039c0034 a0040c0028 a0041c0026 a0043c0023 a0045c0158 a0048c0183 a0062c0180 a0064c0161 a0066c0164 a0074c0173 a0076c0169 a0081c0060 a0087c0064 a0088c0063 a0089c0065 a0090c0067 a0093c0153 a0094c0077 a0096c0079 a0113c0106 a0123c0068 a0124c0121 a0125c0155 a0126c0072 a0127c0075 a0128c0071 a0129c0074 a0130c0073 a0139c0084 a0140c0081 a0141c0082 a0142c0087 a0143c0083 a0144c0131 a0145c0126 a0146c0091 a0147c0143 a0148c0089 a0149c0090 a0150c0088 a0151c0144 a0155c0149 a0163c0053 a0164c0049 a0167c0048	a0003c0003t0001 a0003c0029t0001 a0003c0127t0001 others(76): Show a0003c0003t0001 a0003c0029t0001 a0003c0127t0001 a0003c0128t0001 a0003c0129t0003 a0003c0130t0001 a0004c0006t0001 a0004c0006t0003 a0004c0013t0001 a0004c0123t0001 a0004c0150t0001 a0004c0151t0001 a0008c0027t0003 a0008c0035t0001 a0008c0085t0003 a0008c0086t0003 a0012c0018t0002 a0012c0163t0002 a0015c0007t0004 a0018c0019t0002 a0019c0017t0002 a0023c0024t0001 a0023c0066t0001 a0024c0037t0001 a0024c0154t0001 a0025c0014t0001 a0026c0012t0001 a0027c0016t0003 a0028c0196t0002 a0028c0197t0002 a0030c0038t0002 a0031c0160t0002 a0031c0184t0002 a0038c0033t0003 a0039c0034t0001 a0040c0028t0003 a0041c0026t0003 a0043c0023t0001 a0045c0158t0002 a0048c0183t0002 a0062c0180t0002 a0064c0161t0002 a0066c0164t0002 a0074c0173t0002 a0076c0169t0002 a0081c0060t0002 a0087c0064t0001 a0088c0063t0001 a0089c0065t0001 a0090c0067t0001 a0093c0153t0001 a0094c0077t0001 a0096c0079t0004 a0113c0106t0001 a0123c0068t0003 a0124c0121t0001 a0125c0155t0004 a0126c0072t0003 a0127c0075t0003 a0128c0071t0003 a0129c0074t0003 a0130c0073t0003 a0139c0084t0003 a0140c0081t0003 a0141c0082t0003 a0142c0087t0003 a0143c0083t0003 a0144c0131t0001 a0145c0126t0001 a0146c0091t0001 a0147c0143t0001 a0148c0089t0001 a0149c0090t0001 a0150c0088t0001 a0151c0144t0001 a0155c0149t0001 a0163c0053t0001 a0164c0049t0001 a0167c0048t0001	a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 others(114): Show a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0029t0001g0147 a0003c0029t0001g0208 a0003c0127t0001g0156 a0003c0128t0001g0157 a0003c0129t0003g0305 a0003c0130t0001g0225 a0004c0006t0001g0137 a0004c0006t0001g0142 a0004c0006t0001g0143 a0004c0006t0003g0005 a0004c0006t0003g0115 a0004c0013t0001g0141 a0004c0013t0001g0145 a0004c0013t0001g0146 a0004c0123t0001g0140 a0004c0150t0001g0010 a0004c0151t0001g0283 a0008c0027t0003g0297 a0008c0027t0003g0300 a0008c0035t0001g0166 a0008c0035t0001g0228 a0008c0085t0003g0306 a0008c0086t0003g0308 a0012c0018t0002g0048 a0012c0018t0002g0049 a0012c0018t0002g0101 a0012c0163t0002g0102 a0015c0007t0004g0006 a0015c0007t0004g0117 a0015c0007t0004g0118 a0018c0019t0002g0280 a0018c0019t0002g0281 a0018c0019t0002g0282 a0019c0017t0002g0066 a0019c0017t0002g0067 a0019c0017t0002g0109 a0023c0024t0001g0074 a0023c0024t0001g0112 a0023c0066t0001g0075 a0024c0037t0001g0013 a0024c0037t0001g0014 a0024c0154t0001g0016 a0025c0014t0001g0127 a0025c0014t0001g0153 a0025c0014t0001g0219 a0026c0012t0001g0238 a0026c0012t0001g0239 a0026c0012t0001g0240 a0027c0016t0003g0302 a0027c0016t0003g0312 a0027c0016t0003g0313 a0028c0196t0002g0041 a0028c0197t0002g0036 a0030c0038t0002g0051 a0030c0038t0002g0052 a0031c0160t0002g0113 a0031c0184t0002g0081 a0038c0033t0003g0005 a0038c0033t0003g0116 a0039c0034t0001g0165 a0039c0034t0001g0229 a0040c0028t0003g0294 a0040c0028t0003g0307 a0041c0026t0003g0296 a0041c0026t0003g0310 a0043c0023t0001g0173 a0043c0023t0001g0174 a0045c0158t0002g0050 a0048c0183t0002g0247 a0062c0180t0002g0243 a0064c0161t0002g0170 a0066c0164t0002g0279 a0074c0173t0002g0068 a0076c0169t0002g0018 a0081c0060t0002g0061 a0087c0064t0001g0078 a0088c0063t0001g0073 a0089c0065t0001g0077 a0090c0067t0001g0076 a0093c0153t0001g0015 a0094c0077t0001g0245 a0096c0079t0004g0120 a0113c0106t0001g0261 a0123c0068t0003g0293 a0124c0121t0001g0169 a0125c0155t0004g0171 a0126c0072t0003g0287 a0127c0075t0003g0311 a0128c0071t0003g0291 a0129c0074t0003g0292 a0130c0073t0003g0288 a0139c0084t0003g0290 a0140c0081t0003g0303 a0141c0082t0003g0298 a0142c0087t0003g0309 a0143c0083t0003g0295 a0144c0131t0001g0159 a0145c0126t0001g0158 a0146c0091t0001g0207 a0147c0143t0001g0128 a0148c0089t0001g0234 a0149c0090t0001g0007 a0150c0088t0001g0275 a0151c0144t0001g0178 a0155c0149t0001g0177 a0163c0053t0001g0122 a0164c0049t0001g0121 a0167c0048t0001g0125	118	320	0.3688	28	c.217 others(47): Show c.21713-819_21713-818insTGCCCTCCCCAAGGACTGCACGGGAC AG	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	91/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG01934.hp1 others(2): Show HG01167.hp2 HG01891.hp1 HG01934.hp1 HG01993.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0003 a0001c0008 a0002c0003	a0001c0008t0004 a0002c0003t0001 a0001c0008t0004 a0002c0003t0001	a0001c0008t0004g0052 a0002c0003t0001g0096 a0002c0003t0001g0142 others(1): Show a0001c0008t0004g0052 a0002c0003t0001g0096 a0002c0003t0001g0142 a0002c0003t0001g0145	5	408	0.0123	28	c.113 others(45): Show c.1138+509_1138+510insCCTTCCTTCCTTCCTTTCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01943.hp2 HG01168.hp2 HG01169.hp2 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0061 a0002c0003t0001g0035 a0002c0003t0001g0061	3	408	0.0074	28	c.113 others(45): Show c.1138+509_1138+510insCCTTCCTTCCTTCCTTCCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0034 a0002c0003t0001g0034	2	408	0.0049	28	c.113 others(45): Show c.1138+482_1138+509dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0055 a0005c0018t0001g0082 a0005c0018t0001g0055 a0005c0018t0001g0082	2	110	0.0182	28	c.243 others(49): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0094 a0001c0005t0001g0094	1	110	0.0091	28	c.243 others(49): Show c.2432+20356_2432+20357insTATATATATATATATATAGAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0074 a0001c0003t0001g0075	2	110	0.0182	28	c.243 others(49): Show c.2432+20356_2432+20357insTATATATATATATAGAGAGAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03139.hp1 HG03195.hp2 HG00423.hp2 HG03139.hp1 HG03195.hp2	a0001 a0012 a0001 a0012	a0001c0005 a0001c0031 a0012c0021 a0001c0005 a0001c0031 a0012c0021	a0001c0005t0001 a0001c0031t0001 a0012c0021t0001 a0001c0005t0001 a0001c0031t0001 a0012c0021t0001	a0001c0005t0001g0105 a0001c0031t0001g0029 a0012c0021t0001g0050 a0001c0005t0001g0105 a0001c0031t0001g0029 a0012c0021t0001g0050	3	110	0.0273	28	c.243 others(49): Show c.2432+20356_2432+20357insTATATATATATAGAGAGAGAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02738.hp1 HG02451.hp1 HG02723.hp2 HG02738.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0015 a0004c0017 a0001c0005 a0002c0015 a0004c0017	a0001c0005t0001 a0002c0015t0001 a0004c0017t0001 a0001c0005t0001 a0002c0015t0001 a0004c0017t0001	a0001c0005t0001g0092 a0002c0015t0001g0044 a0004c0017t0001g0104 a0001c0005t0001g0092 a0002c0015t0001g0044 a0004c0017t0001g0104	3	110	0.0273	28	c.243 others(49): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	110	0.0091	28	c.243 others(49): Show c.2432+20356_2432+20357insTATAGAGAGAGAGAGAGAGAGAGA GAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27829301	A A	ATAGATAG others(21): Show ATAGATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp1 HG02055.hp2 HG03098.hp1	a0001 a0015 a0001 a0015	a0001c0046 a0015c0037 a0001c0046 a0015c0037	a0001c0046t0001 a0015c0037t0001 a0001c0046t0001 a0015c0037t0001	a0001c0046t0001g0088 a0015c0037t0001g0080 a0001c0046t0001g0088 a0015c0037t0001g0080	2	110	0.0182	28	c.243 others(49): Show c.2432+15657_2432+15658insACTATCTATCTATCTATCTATCTA TCTA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	28	c.-78 others(37): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	444	0.0023	28	c.-78 others(37): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCSTAMP_chr20_46535946_46555654	46543305	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG03492.hp2 others(3): Show HG02735.hp1 HG03491.hp1 HG03492.hp2 HG03831.hp1 HG04204.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0065 a0001c0002t0003g0170 others(1): Show a0001c0002t0003g0059 a0001c0002t0003g0065 a0001c0002t0003g0170 a0001c0002t0003g0212	6	442	0.0136	28	c.104 others(47): Show c.1048-1379_1048-1378insAAAGAAAGAAAGAAAGAAAGGAAGGA AG	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46543305	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	442	0.0023	28	c.104 others(47): Show c.1048-1379_1048-1378insAAAGAAAGAAAGAAAGAAAGAAAGGA AG	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00597.hp1 others(50): Show HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18987.hp1 NA18991.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19060.hp2 NA19067.hp2 NA19081.hp2 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0023 others(27): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0127 a0001c0002t0004g0118 a0001c0007t0001g0036 a0001c0007t0001g0117	53	442	0.1199	28	c.44+ others(41): Show c.44+710_44+711insCACACACACACACACACACACACACACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27924000	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0268 a0010c0016t0001g0268	1	304	0.0033	28	c.249 others(49): Show c.2495+11009_2495+11010insCTCTCTCTCTCTCTCTCTCTCTCT CTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27924008	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp2 NA18943.hp1 others(1): Show HG00621.hp2 HG01993.hp2 NA18943.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0274 a0001c0002t0002g0282 a0001c0002t0002g0284 others(1): Show a0001c0002t0002g0274 a0001c0002t0002g0282 a0001c0002t0002g0284 a0002c0003t0002g0185	4	304	0.0132	28	c.249 others(49): Show c.2495+11001_2495+11002insCTCTTTCTTTCTTTCTTTCTTTCT TTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27924048	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01258.hp2 HG01934.hp2 others(13): Show HG00597.hp1 HG01258.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp2 HG03017.hp2 HG03688.hp1 NA18946.hp2 NA18952.hp1 NA18961.hp2 NA18975.hp2 NA18994.hp1 NA18994.hp2 NA19066.hp2 NA19074.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0002c0003 a0003c0004 others(1): Show a0001c0002 a0002c0003 a0003c0004 a0006c0005	a0001c0002t0002 a0002c0003t0002 a0003c0004t0001 others(2): Show a0001c0002t0002 a0002c0003t0002 a0003c0004t0001 a0006c0005t0002 a0006c0005t0003	a0001c0002t0002g0208 a0001c0002t0002g0252 a0002c0003t0002g0172 others(13): Show a0001c0002t0002g0208 a0001c0002t0002g0252 a0002c0003t0002g0172 a0003c0004t0001g0029 a0003c0004t0001g0048 a0003c0004t0001g0100 a0003c0004t0001g0221 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0228 a0003c0004t0001g0232 a0003c0004t0001g0243 a0006c0005t0002g0043 a0006c0005t0002g0229 a0006c0005t0002g0234 a0006c0005t0003g0242	16	304	0.0526	28	c.249 others(49): Show c.2495+10961_2495+10962insTTCTTTCTTTCTTTCTTTCTTTCT TTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425515	A A	ATATGTAT others(21): Show ATATGTATATATGTATATATGTGTGTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA21309.hp2 HG01099.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0319 a0001c0001t0001g0165 a0001c0001t0001g0319	2	398	0.0050	28	c.963 others(43): Show c.963+601_963+628dupCATACACACATATATACATATATACATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG03491.hp2 others(11): Show HG00621.hp1 HG02135.hp1 HG03491.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp2 NA18974.hp1 NA18977.hp2 NA18983.hp2 NA19004.hp1 NA19057.hp1 NA19064.hp2 NA19070.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0033 others(10): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0122	14	406	0.0345	28	c.-46 others(39): Show c.-4656_-4655insATATATATATATATATATATATATATAT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470012	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	346	0.0029	28	c.669 others(43): Show c.669+660_669+661insTATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470014	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	346	0.0029	28	c.669 others(43): Show c.669+662_669+663insTATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	346	0.0029	28	c.669 others(43): Show c.669+664_669+665insTATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar

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