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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	27	c.48 others(38): Show c.4818_*4819insAAAAAAAAAAAAAAAAAATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	413	0.0024	27	c.48 others(38): Show c.4818_*4819insAAAAAAAAAAAATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	413	0.0024	27	c.48 others(38): Show c.4818_*4819insAAAAAAAAAATATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	413	0.0024	27	c.48 others(38): Show c.4818_*4819insAAAAAAAATATATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	413	0.0048	27	c.48 others(38): Show c.4818_*4819insAAAAAATATATATATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME5_chr5_138110175_138144428	138122441	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	388	0.0026	27	c.437 others(44): Show c.437-3532_437-3506dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding	4/5						chr5	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19070.hp2 NA19088.hp1 NA18995.hp2 NA19070.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0035 a0001c0001t0001g0070 a0002c0008t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0070 a0002c0008t0001g0007	3	388	0.0077	27	c.-17 others(38): Show c.-1796_-1795insGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03688.hp1 NA19082.hp2 HG03239.hp1 HG03688.hp1 NA19082.hp2	a0005 a0006 a0005 a0006	a0005c0006 a0005c0014 a0006c0011 a0005c0006 a0005c0014 a0006c0011	a0005c0006t0002 a0005c0014t0002 a0006c0011t0002 a0005c0006t0002 a0005c0014t0002 a0006c0011t0002	a0005c0006t0002g0311 a0005c0014t0002g0303 a0006c0011t0002g0283 a0005c0006t0002g0311 a0005c0014t0002g0303 a0006c0011t0002g0283	3	388	0.0077	27	c.-17 others(38): Show c.-1796_-1795insGAAGAGGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02300.hp2 others(11): Show HG01109.hp1 HG02258.hp1 HG02300.hp2 HG03831.hp2 NA18747.hp1 NA18942.hp2 NA18957.hp1 NA18962.hp1 NA18971.hp2 NA18986.hp2 NA18998.hp2 NA19065.hp1 NA19076.hp2 NA19087.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0008 a0002c0009 others(2): Show a0002c0002 a0002c0008 a0002c0009 a0002c0020 a0007c0017	a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 others(2): Show a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 a0002c0020t0001 a0007c0017t0001	a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0181 others(11): Show a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0181 a0002c0002t0001g0206 a0002c0002t0001g0217 a0002c0008t0001g0018 a0002c0008t0001g0209 a0002c0008t0001g0233 a0002c0008t0001g0239 a0002c0009t0001g0195 a0002c0009t0001g0244 a0002c0020t0001g0196 a0007c0017t0001g0137 a0007c0017t0001g0229	14	388	0.0361	27	c.-17 others(38): Show c.-1784_-1783insGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAGGAAG others(20): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0128 a0003c0003t0001g0128	1	388	0.0026	27	c.-17 others(38): Show c.-1784_-1783insGAGGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18955.hp2 NA19000.hp1 NA18949.hp1 NA18955.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0253 a0001c0001t0004g0263 a0001c0001t0004g0242 a0001c0001t0004g0253 a0001c0001t0004g0263	3	388	0.0077	27	c.-17 others(38): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0168 a0004c0005t0001g0168	1	388	0.0026	27	c.-17 others(38): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGGAGACGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37848327	G G	GAAGAAGA others(20): Show GAAGAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	388	0.0026	27	c.-64 others(36): Show c.-642_-641insAAGAAGAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					269		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAACAACA others(20): Show GAACAACAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0179 a0002c0008t0001g0179	1	388	0.0026	27	c.-62 others(36): Show c.-624_-623insAACAACAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAACAAGA others(20): Show GAACAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0216 a0002c0009t0001g0216	1	388	0.0026	27	c.-62 others(36): Show c.-624_-623insAACAAGAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAAGA others(20): Show GAAGAAGAAGAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA19005.hp1 NA18950.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0240 a0002c0002t0001g0020 a0002c0002t0001g0240	2	388	0.0052	27	c.-62 others(36): Show c.-624_-623insAAGAAGAAGAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	258	0.0039	27	c.86- others(44): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTTTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMT2_chr10_15100770_15173693	15102403	C C	CTCTACTC others(20): Show CTCTACTCATTTGGCTCAGATGTGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	276	0.0036	27	c.67 others(38): Show c.6791_*6792insACTTCACATCTGAGCCAAATGAGTAGA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding					3366		chr10	TogoVar
NMT2_chr10_15100770_15173693	15136223	A A	AAAGGGAA others(20): Show AAAGGGAAAGGGAAAGGGAAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG03225.hp2 others(2): Show HG02258.hp2 HG02647.hp1 HG03225.hp2 HG03471.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0008 a0001c0002 a0001c0005 a0002c0008	a0001c0002t0010 a0001c0005t0010 a0002c0008t0010 a0001c0002t0010 a0001c0005t0010 a0002c0008t0010	a0001c0002t0010g0011 a0001c0002t0010g0012 a0001c0002t0010g0090 others(2): Show a0001c0002t0010g0011 a0001c0002t0010g0012 a0001c0002t0010g0090 a0001c0005t0010g0045 a0002c0008t0010g0013	5	276	0.0181	27	c.247 others(42): Show c.247-832_247-806dupCCCTTCCTTTCCCTTTCCCTTTCCCTT		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	2/11						chr10	TogoVar
NOL10_chr2_10565754_10694975	10607750	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0249 a0001c0002t0002g0249	1	372	0.0027	27	c.102 others(44): Show c.1027-440_1027-439insTAATAATAATAATAATAATAATAATAA		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20						chr2	TogoVar
NOL4_chr18_33846100_34229913	34024192	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	168	0.0060	27	c.773 others(44): Show c.773-4592_773-4591insATATATATATATATATATATATATATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00280.hp1 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0046 a0001c0001t0001g0054	2	168	0.0119	27	c.773 others(44): Show c.773-4594_773-4593insATATATATATATATATATATATATATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	337	0.0030	27	c.180 others(44): Show c.1806+486_1806+487insATATATATATATATATATATATATTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19065.hp2 NA18982.hp1 NA19065.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0039 a0001c0008t0001g0040	2	337	0.0059	27	c.180 others(44): Show c.1806+486_1806+487insATATATATATATATATATATATTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG02683.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0167 a0001c0001t0001g0049 a0001c0001t0001g0167	2	337	0.0059	27	c.180 others(44): Show c.1806+486_1806+487insATATATATATATATATATATTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2955175	G G	GCCACGGC others(20): Show GCCACGGCGCCCCCTCTAGTCACCTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	422	0.0024	27	c.473 others(42): Show c.473-639_473-613dupTCCAGGTGACTAGAGGGGGCGCCGTGG		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	3/17						chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(20): Show ATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0074 a0001c0002t0009g0074	1	182	0.0055	27	c.105 others(46): Show c.105+11493_105+11494insATATATTTTTTTTTTTTTTTTTTTTT T		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 NA18906.hp1 HG01109.hp2 HG01169.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0022 a0001c0004t0003g0058 a0001c0004t0003g0172 a0001c0002t0001g0022 a0001c0004t0003g0058 a0001c0004t0003g0172	3	182	0.0165	27	c.177 others(46): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT T		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162321731	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0096 a0001c0001t0016g0096	1	182	0.0055	27	c.345 others(46): Show c.345-11285_345-11284insAAATATATATATATATATATATATAT A		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS3_chr7_150986017_151019588	150997169	A A	AGAAGTCT others(20): Show AGAAGTCTAGACCTGCTGCAGGGGTGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02647.hp1 others(3): Show HG02615.hp2 HG02622.hp2 HG02647.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0254 a0001c0002t0001g0255 others(3): Show a0001c0002t0001g0127 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258	6	382	0.0157	27	c.582 others(42): Show c.582+317_582+343dupAGGGGTGAGGAAGTCTAGACCTGCTGC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	5/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168834507	G G	GCAGCGCG others(20): Show GCAGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0262 a0001c0005t0003g0262	1	326	0.0031	27	c.504 others(42): Show c.504+184_504+185insGCGCGCGCGCGCGCACACACACACACA		NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390703	T T	TTCGGACC others(20): Show TTCGGACCGTAGCGCCAGGGCCTGAGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02965.hp1 others(1): Show HG02258.hp2 HG02280.hp1 HG02965.hp1 HG03130.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0019 a0003c0003 a0012c0010 a0001c0019 a0003c0003 a0012c0010	a0001c0019t0010 a0003c0003t0010 a0012c0010t0010 a0001c0019t0010 a0003c0003t0010 a0012c0010t0010	a0001c0019t0010g0253 a0003c0003t0010g0250 a0003c0003t0010g0252 others(1): Show a0001c0019t0010g0253 a0003c0003t0010g0250 a0003c0003t0010g0252 a0012c0010t0010g0251	4	260	0.0154	27	c.-83 others(34): Show c.-83_-57dupCGGACCGTAGCGCCAGGGCCTGAGCCT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5				56	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(20): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG01071.hp1 HG02165.hp2 others(9): Show HG00408.hp2 HG01071.hp1 HG02165.hp2 HG02886.hp1 NA18952.hp1 NA18981.hp1 NA18982.hp2 NA18992.hp2 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19078.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0004 a0007c0006t0005 others(3): Show a0007c0006t0001 a0007c0006t0004 a0007c0006t0005 a0007c0006t0006 a0007c0006t0025 a0007c0006t0036	a0007c0006t0001g0154 a0007c0006t0001g0160 a0007c0006t0001g0184 others(9): Show a0007c0006t0001g0154 a0007c0006t0001g0160 a0007c0006t0001g0184 a0007c0006t0001g0202 a0007c0006t0001g0227 a0007c0006t0004g0217 a0007c0006t0004g0220 a0007c0006t0005g0208 a0007c0006t0006g0088 a0007c0006t0006g0131 a0007c0006t0025g0247 a0007c0006t0036g0110	12	260	0.0462	27	c.18_ others(32): Show c.18_44dupCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly7_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18965.hp2 NA18612.hp2 NA18965.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0150 a0005c0004t0001g0121 a0001c0001t0001g0150 a0005c0004t0001g0121	2	164	0.0122	27	c.74- others(44): Show c.74-11073_74-11072insATATATATATATATATATTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	164	0.0061	27	c.74- others(44): Show c.74-11073_74-11072insATATATATATATTTTTTTTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041057	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0006 a0001c0003t0011g0006	1	168	0.0060	27	c.74- others(44): Show c.74-11071_74-11070insATATATATATATATATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041065	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	168	0.0060	27	c.74- others(44): Show c.74-11079_74-11078insATATATATATATATATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOX3_chr6_155390368_155460839	155416744	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG01109.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0144 a0001c0003t0001g0051 a0001c0003t0001g0144	2	362	0.0055	27	c.130 others(46): Show c.1309-5385_1309-5384insAAAAAAAAAAAAAAAAAAAAAAAAAA A		NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	10/13						chr6	TogoVar
NOX5_chr15_69009695_69067762	69045599	T T	TTCCCTTT others(20): Show TTCCCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	396	0.0025	27	c.164 others(46): Show c.1648-1222_1648-1221insCCCTTTCTTTCTTTTTTCTTTCTTTC T		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXA1_chr9_137418393_137439406	137428226	G G	GGGAGCGC others(20): Show GGGAGCGCCTCTGGCCGAAGCTCTTGGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	404	0.0025	27	c.369 others(41): Show c.369+87_369+113dupGAGCGCCTCTGGCCGAAGCTCTTGGTG		NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
NPAP1_chr15_24670775_24688393	24680712	C C	CCTGTATG others(20): Show CCTGTATGTATCATCAGCTGTACCCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02895.hp2 others(8): Show HG02055.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0002 a0007c0011 a0008c0009 a0001c0002 a0007c0011 a0008c0009	a0001c0002t0042 a0001c0002t0043 a0007c0011t0017 others(4): Show a0001c0002t0042 a0001c0002t0043 a0007c0011t0017 a0007c0011t0032 a0008c0009t0017 a0008c0009t0032 a0008c0009t0044	a0001c0002t0042g0000 a0001c0002t0043g0000 a0007c0011t0017g0000 others(4): Show a0001c0002t0042g0000 a0001c0002t0043g0000 a0007c0011t0017g0000 a0007c0011t0032g0000 a0008c0009t0017g0000 a0008c0009t0032g0000 a0008c0009t0044g0000	11	444	0.0248	27	c.13 others(38): Show c.1377_*1378insTATGTATCATCAGCTGTACCCTCTCTG		NPAP1	ENSG00000185823.5	transcript	ENST00000329468.5	protein_coding	1/1				1378	INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG03579.hp1 others(4): Show HG02055.hp1 HG02818.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0002c0002t0028 a0002c0006t0017	a0001c0001t0002g0038 a0001c0001t0005g0033 a0001c0001t0010g0055 others(4): Show a0001c0001t0002g0038 a0001c0001t0005g0033 a0001c0001t0010g0055 a0001c0001t0013g0022 a0001c0001t0018g0026 a0002c0002t0028g0031 a0002c0006t0017g0024	7	92	0.0761	27	c.-79 others(36): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATTA others(20): Show ATATATTATATATATATATAAAATTATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	92	0.0109	27	c.469 others(46): Show c.469-15293_469-15292insATATTATATATATATATAAAATTATG T		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATTA others(20): Show ATATATTATATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02897.hp1 HG06807.hp1 HG01243.hp2 HG02897.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0024 a0001c0001t0001 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0069 a0001c0001t0011g0016 a0001c0001t0024g0009 a0001c0001t0001g0069 a0001c0001t0011g0016 a0001c0001t0024g0009	3	92	0.0326	27	c.469 others(46): Show c.469-15293_469-15292insATATTATATATATATATATAATTATG T		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPDC1_chr9_137034463_137051177	137039664	C C	CCAAAAGC others(20): Show CCAAAAGCACACAGCATCAAAACATGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	402	0.0025	27	c.81 others(35): Show c.81_*107dupAACATGTTTTGATGCTGTGTGCTTTTG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding	9/9				107		chr9	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19002.hp1 NA18981.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0332 a0001c0001t0002g0219 a0001c0001t0002g0332	2	342	0.0059	27	c.255 others(44): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPEPPS_chr17_47526108_47628276	47606744	A A	AGCTTCTA others(20): Show AGCTTCTATGTCTTTTCTTCATTGATTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0002c0005 a0003c0010 a0004c0007 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0001c0004t0003 a0001c0006t0003 a0001c0011t0001 a0002c0005t0001 a0003c0010t0001 a0004c0007t0001 a0005c0008t0003 a0006c0009t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(333): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0082 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0155 a0001c0001t0004g0292 a0001c0001t0005g0001 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0291 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0007g0338 a0001c0001t0008g0335 a0001c0001t0009g0094 a0001c0001t0010g0186 a0001c0001t0011g0285 a0001c0001t0012g0083 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0264 a0001c0002t0001g0269 a0001c0002t0001g0299 a0001c0002t0003g0266 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0004t0003g0059 a0001c0004t0003g0060 a0001c0004t0003g0080 a0001c0006t0003g0339 a0001c0006t0003g0340 a0001c0011t0001g0311 a0002c0005t0001g0008 a0002c0005t0001g0020 a0003c0010t0001g0110 a0004c0007t0001g0248 a0005c0008t0003g0050 a0006c0009t0002g0114	338	342	0.9883	27	c.209 others(46): Show c.2095+1192_2095+1193insGCTTCTATGTCTTTTCTTCATTGATT C		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	17/22						chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAGAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0053 a0001c0001t0016g0053	1	368	0.0027	27	c.8-5 others(40): Show c.8-5821_8-5820insTTTCTTTCTCTCTTTCTTTCTTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAGAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01074.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	368	0.0054	27	c.8-5 others(40): Show c.8-5821_8-5820insTTTCTTTCTTTCTCTCTTTCTTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPHP4_chr1_5857811_5997425	5882233	T T	TCTCTCAG others(20): Show TCTCTCAGTGGCGCGCTTACCCAGCCAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG02896.hp2 HG03453.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0022 a0001c0003 a0010c0022	a0001c0003t0002 a0010c0022t0005 a0001c0003t0002 a0010c0022t0005	a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(1): Show a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 a0010c0022t0005g0207	4	208	0.0192	27	c.248 others(46): Show c.2486-1995_2486-1994insTTGGCTGGGTAAGCGCGCCACTGAGA G		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29						chr1	TogoVar

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