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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NID2_chr14_51999809_52074059	52030490	AAAGAAAG others(31): Show AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0353 a0004c0006t0002g0353	1	372	0.0027	-38	c.225 others(55): Show c.2258-838_2258-801delCTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NKAIN1_chr1_31174745_31244887	31240770	AGCATCAC others(31): Show AGCATCACCCAAGTGGAATTTCCTAGGTCATCCTCCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	338	0.0030	-38	c.-12 others(49): Show c.-1261_-1224delCCTGGAGGATGACCTAGGAAATTCCACTTGGGTG ATGC	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding		884		chr1	TogoVar
NKAIN2_chr6_123798865_124830640	124028857	CTATATAT others(31): Show CTATATATACACATATATGTATATATATGTGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 NA18522.hp1 NA18964.hp1 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0002t0018 a0001c0003t0003 a0002c0004t0017	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0008g0051 a0001c0001t0010g0053 a0001c0001t0020g0005 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0005g0020 a0001c0002t0007g0047 a0001c0002t0014g0022 a0001c0002t0018g0007 a0001c0003t0003g0037 a0002c0004t0017g0013	28	66	0.4242	-38	c.54+ others(57): Show c.54+224650_54+224687delCACATATATGTATATATATGTGTATA TATATATATATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62345474	CACATATA others(31): Show CACATATATGTATATATACACACATATATACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00738.hp1 others(21): Show HG00323.hp2 HG00544.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG02135.hp2 HG02258.hp1 HG02559.hp1 HG02922.hp2 HG03225.hp2 HG03704.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18966.hp1 NA18966.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19064.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(19): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0043 a0001c0001t0048 a0001c0001t0078 a0001c0001t0099 a0001c0002t0002 a0001c0002t0003 a0001c0002t0024 a0001c0002t0045 a0001c0002t0046 a0001c0002t0073 a0001c0002t0087 a0002c0003t0010 a0002c0003t0026 a0002c0003t0037 a0002c0003t0081 a0003c0005t0095	a0001c0001t0006g0121 a0001c0001t0009g0012 a0001c0001t0011g0016 others(21): Show a0001c0001t0006g0121 a0001c0001t0009g0012 a0001c0001t0011g0016 a0001c0001t0015g0036 a0001c0001t0021g0085 a0001c0001t0022g0084 a0001c0001t0043g0009 a0001c0001t0048g0050 a0001c0001t0078g0082 a0001c0001t0099g0083 a0001c0002t0002g0126 a0001c0002t0003g0015 a0001c0002t0003g0034 a0001c0002t0024g0104 a0001c0002t0024g0113 a0001c0002t0045g0020 a0001c0002t0046g0019 a0001c0002t0073g0118 a0001c0002t0087g0124 a0002c0003t0010g0038 a0002c0003t0026g0041 a0002c0003t0037g0014 a0002c0003t0081g0123 a0003c0005t0095g0081	24	144	0.1667	-38	c.54+ others(55): Show c.54+96351_54+96388delTATATGTATATATACACACATATATACA CATATATACA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX2-5_chr5_173227109_173240206	173237843	CCAAAAAG others(31): Show CCAAAAAGGTCTTGGTGTTGCAGGAGAGAGGAGATGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	430	0.0023	-38	c.-27 others(49): Show c.-2798_-2761delCCCCATCTCCTCTCTCCTGCAACACCAAGACCTT TTTG	NKX2-5	ENSG00000183072.10	transcript	ENST00000329198.5	protein_coding		2638		chr5	TogoVar
NLGN4X_chrX_5885042_6233867	5925843	TACATACA others(31): Show TACATACACATATATATATATATATATATACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00621.hp1 others(5): Show HG00140.hp1 HG00408.hp2 HG00621.hp1 HG00741.hp2 HG03927.hp2 NA18950.hp2 NA18956.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0001 a0001c0002t0003 a0001c0008t0001	a0001c0002t0003g0021 a0001c0002t0003g0024 a0001c0002t0003g0046 others(5): Show a0001c0002t0003g0021 a0001c0002t0003g0024 a0001c0002t0003g0046 a0001c0002t0003g0057 a0001c0002t0003g0063 a0001c0002t0003g0081 a0001c0002t0003g0106 a0001c0008t0001g0032	8	128	0.0625	-38	c.626 others(57): Show c.626-16642_626-16605delGTGTGTATGTATATATATATATATAT ATATGTGTATGT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6021039	TCTCTCTC others(31): Show TCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03654.hp1 HG04204.hp1 others(3): Show HG01358.hp1 HG03654.hp1 HG04204.hp1 NA19088.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0002g0014 a0001c0001t0002g0027	6	128	0.0469	-38	c.625 others(55): Show c.625+8203_625+8240delGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAGAG	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6116566	GCCTCAGC others(31): Show GCCTCAGCCCCCGCCTCCCAGGTTCAAGTGATTCTTCTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01981.hp2 others(5): Show HG00741.hp1 HG01099.hp1 HG01981.hp2 HG02071.hp1 HG02258.hp1 HG02572.hp1 NA18959.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0008 a0001c0001t0001 a0001c0001t0004 a0001c0003t0008	a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0004g0007 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0037 a0001c0001t0004g0050 a0001c0001t0004g0065 a0001c0003t0008g0052	8	128	0.0625	-38	c.472 others(57): Show c.472+34391_472+34428delTAGAAGAATCACTTGAACCTGGGAGG CGGGGGCTGAGG	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRP7_chr19_54918515_54952530	54934288	GTTGGTCT others(31): Show GTTGGTCTCGAACTCCTGAACTCAGATGATCCGCCCACC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0186 a0023c0029t0001g0186	1	419	0.0024	-38	c.247 others(55): Show c.2471+163_2471+200delGGTGGGCGGATCATCTGAGTTCAGGAGT TCGAGACCAA	NLRP7	ENSG00000167634.12	transcript	ENST00000592784.6	protein_coding	7/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986440	GCACTCTC others(31): Show GCACTCTCTCTCTCACACACACACTCTCTCACATACACA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0011 a0000c0002t0011	a0000c0002t0011g0033 a0000c0002t0011g0033	1	350	0.0029	-38	c.304 others(57): Show c.3048-1370_3048-1333delTCTCTCTCTCACACACACACTCTCTC ACATACACACAC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME1_chr17_51148559_51167168	51150834	CGTCTCAA others(31): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAACTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0041 a0005c0006t0005g0041	1	384	0.0026	-38	c.-28 others(49): Show c.-2832_-2795delGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAA CTAT	NME1	ENSG00000239672.8	transcript	ENST00000393196.8	protein_coding		2724		chr17	TogoVar
NME7_chr1_169127531_169372797	169342959	ATATATAT others(31): Show ATATATATATATACAAGTACATATATATACTTGTATTAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG00639.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0292 a0001c0002t0001g0293	2	302	0.0066	-38	c.4-1 others(53): Show c.4-18497_4-18460delCTAATACAAGTATATATATGTACTTGTATA TATATATA	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37848214	AGAAGAAG others(31): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	388	0.0026	-38	c.-75 others(47): Show c.-754_-717delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGA AG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		382		chr7	TogoVar
NME8_chr7_37843597_37905397	37848217	AGAAGAAG others(31): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	388	0.0026	-38	c.-75 others(47): Show c.-751_-714delGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGA AG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		379		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389814	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18979.hp2 NA18977.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0065 a0001c0001t0005g0047 a0001c0001t0003g0065 a0001c0001t0005g0047	2	258	0.0078	-38	c.85+ others(55): Show c.85+28331_85+28368delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	322	0.0031	-38	c.110 others(57): Show c.110-17899_110-17862delTATATATATATATATATATATATATA TATATATATATA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NMT2_chr10_15100770_15173693	15112202	ATATATAT others(31): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0074 a0001c0001t0024g0074	1	276	0.0036	-38	c.133 others(55): Show c.1338+556_1338+593delAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NOC4L_chr12_132139457_132157468	132156553	AACCACTA others(31): Show AACCACTACACACACCACTACACACACACCACTACATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01106.hp1 others(64): Show HG00738.hp1 HG01069.hp1 HG01106.hp1 HG01934.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18950.hp1 NA18951.hp1 NA18956.hp1 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18991.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0010 a0013 a0015 a0018	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0015 a0001c0024 a0001c0041 a0002c0002 a0002c0037 a0004c0031 a0004c0032 a0010c0040 a0013c0036 a0015c0019 a0018c0022	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0015t0001 a0001c0024t0001 a0001c0041t0001 a0002c0002t0001 a0002c0037t0001 a0004c0031t0001 a0004c0032t0001 a0010c0040t0001 a0013c0036t0001 a0015c0019t0001 a0018c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0157 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0004t0001g0049 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0005t0001g0215 a0001c0007t0001g0192 a0001c0007t0001g0193 a0001c0007t0001g0195 a0001c0015t0001g0058 a0001c0024t0001g0075 a0001c0041t0001g0194 a0002c0002t0001g0042 a0002c0002t0001g0092 a0002c0037t0001g0041 a0004c0031t0001g0063 a0004c0032t0001g0068 a0010c0040t0001g0196 a0013c0036t0001g0080 a0015c0019t0001g0071 a0018c0022t0001g0072	67	294	0.2279	-38	c.41 others(49): Show c.4153_*4190delACCACTACACACACCACTACACACACACCACTAC ATAC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4086		chr12	TogoVar
NOP10_chr15_34336719_34348136	34345011	CTGTTTAA others(31): Show CTGTTTAAAAAAAAAAATTTAAATCTAAGTAGTTAATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	449	0.0022	-38	c.-19 others(49): Show c.-1976_-1939delAAATTAACTACTTAGATTTAAATTTTTTTTTTTA AACA	NOP10	ENSG00000182117.7	transcript	ENST00000328848.6	protein_coding		1876		chr15	TogoVar
NOS1_chr12_117203142_117366626	117322278	TTCTTCCT others(31): Show TTCTTCCTTCCCTCCTTCCTTCCCTCCCTCTGTCCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0122 a0001c0006t0122	a0001c0006t0122g0096 a0001c0006t0122g0096	1	294	0.0034	-38	c.725 others(55): Show c.725+8029_725+8066delGGAGGGACAGAGGGAGGGAAGGAAGGAG GGAAGGAAGA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0003 a0012c0018t0003	a0012c0018t0003g0133 a0012c0018t0003g0133	1	294	0.0034	-38	c.-42 others(57): Show c.-421+1598_-421+1635delTATATATATATATATATATATATATA TATATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOTUM_chr17_81947507_81966187	81952398	GAGGAGGG others(31): Show GAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03669.hp1 HG01361.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0041 a0001c0002t0001g0005 a0001c0002t0001g0041	2	384	0.0052	-38	c.52 others(47): Show c.525_*562delTCCTCCTCTCCCTCCCCTCCTCCTCTCCCTCCCCTC CT	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		108		chr17	TogoVar
NPAS3_chr14_32933879_33809173	33498931	AGAGAGTG others(31): Show AGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	92	0.0109	-38	c.469 others(57): Show c.469-61188_469-61151delAGAGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPNT_chr4_105890471_105976671	105898290	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0129 a0003c0003t0015g0129	1	236	0.0042	-38	c.172 others(53): Show c.172+311_172+348delGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTCT	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPR3_chr5_32706321_32796720	32728829	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	320	0.0031	-38	c.892 others(55): Show c.892+4011_892+4048delGTGTGTGTATATATATATATATATATAT ATATATATAT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NQO2_chr6_2994894_3024755	3018012	AGTGCACA others(31): Show AGTGCACATTGACTAAGTTCATTCCTTGCTTTTGTTGTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	446	0.0022	-38	c.519 others(55): Show c.519+1030_519+1067delGCACATTGACTAAGTTCATTCCTTGCTT TTGTTGTTGT	NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NR3C1_chr5_143272934_143408686	143345025	TGTGTGTG others(31): Show TGTGTGTGATACGGTAACTGGCATGTCTGAAGGGTCCCA	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	266	0.0038	-38	c.118 others(59): Show c.1185-30895_1185-30858delTGGGACCCTTCAGACATGCCAGTT ACCGTATCACACAC	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	2/8			chr5	TogoVar
NRCAM_chr7_108142649_108461436	108459813	TGGGAATA others(31): Show TGGGAATAAGGTCTGTGTCCTCATCATGTGATAATAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	208	0.0048	-38	c.-39 others(49): Show c.-3940_-3903delTATTATTATCACATGATGAGGACACAGACCTTAT TCCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding		3378		chr7	TogoVar
NRN1_chr6_5992999_6011925	5994907	GCCCCTGG others(31): Show GCCCCTGGGTCGGGGCGGTAGACAGCTCCAGAGGATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	-38	c.40 others(49): Show c.4031_*4068delTCCATCCTCTGGAGCTGTCTACCGCCCCGACCCA GGGG	NRN1	ENSG00000124785.9	transcript	ENST00000244766.7	protein_coding		3091		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50239662	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02717.hp1 others(3): Show HG01884.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0017 a0001c0001t0055 others(2): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0055 a0001c0002t0006 a0001c0002t0047	a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0017g0066 others(3): Show a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0017g0066 a0001c0001t0055g0031 a0001c0002t0006g0108 a0001c0002t0047g0102	6	116	0.0517	-38	c.336 others(57): Show c.3365-2730_3365-2693delTATATATATATATATATATATATATA TATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78943619	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03453.hp1 others(1): Show HG01243.hp1 HG01884.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0008 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0011 a0001c0008t0004	a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0002t0011g0016 others(1): Show a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0002t0011g0016 a0001c0008t0004g0014	4	24	0.1667	-38	c.227 others(59): Show c.2276-13621_2276-13584delAATATATATATATATATATATATA TATATATATATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79740710	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0004 a0001c0001t0002 a0001c0008t0004	a0001c0001t0002g0018 a0001c0008t0004g0014 a0001c0001t0002g0018 a0001c0008t0004g0014	2	24	0.0833	-38	c.401 others(59): Show c.4014+42775_4014+42812delTTATATATATATATATATATATAT ATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01928.hp1 HG01361.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0046 a0001c0001t0011g0051 a0001c0001t0001g0046 a0001c0001t0011g0051	2	130	0.0154	-38	c.201 others(55): Show c.2013+284_2013+321delCACACACACACACACACACACACACACA CACACACACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSDHL_chrX_152826063_152874729	152872647	TGTTTGTG others(31): Show TGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG01884.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0187 a0001c0001t0009g0186 a0001c0001t0006g0187 a0001c0001t0009g0186	2	324	0.0062	-38	c.35 others(49): Show c.3532_*3569delGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGT GTGG	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2919		chrX	TogoVar
NSMCE2_chr8_125086860_125372120	125149376	TACTTTGG others(31): Show TACTTTGGAATCATCTGTGGTATTATTCTTCAGAGTAGA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	244	0.0041	-38	c.158 others(55): Show c.158-1793_158-1756delCTTTGGAATCATCTGTGGTATTATTCTT CAGAGTAGAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMF_chr9_137442570_137464334	137454033	AGGGAGGA others(31): Show AGGGAGGAGCCTGGGCCGGGCTGGGGGCGTGGCTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(163): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0002g0018 a0001c0001t0002g0154 a0001c0001t0003g0049 a0001c0001t0006g0059 a0001c0001t0013g0060 a0001c0001t0014g0061 a0001c0001t0015g0097 a0001c0001t0017g0150 a0001c0001t0024g0098 a0001c0001t0026g0064 a0001c0001t0027g0102 a0001c0001t0028g0172 a0001c0005t0001g0166	166	414	0.4010	-38	c.833 others(53): Show c.833-251_833-214delCTCCCAGCCACGCCCCCAGCCCGGCCCAGG CTCCTCCC	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	7/15			chr9	TogoVar
NSMF_chr9_137442570_137464334	137454221	GAGGGGAG others(31): Show GAGGGGAGGAGCCTGGGCCGGGCTGGGGAAGTGGCTGGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0058 a0001c0004t0006g0058	1	414	0.0024	-38	c.832 others(53): Show c.832+132_832+169delTCCAGCCACTTCCCCAGCCCGGCCCAGGCT CCTCCCCT	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	7/15			chr9	TogoVar
NTM_chr11_131365615_132341822	131392222	CAGGGATG others(31): Show CAGGGATGGGAGTCCTGTGTGCAACCACAGAGCCCCTGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG03516.hp1 others(4): Show HG01243.hp1 HG03130.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0002g0053 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0002g0053 a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0007g0059 a0001c0002t0003g0041	7	86	0.0814	-38	c.82+ others(55): Show c.82+21381_82+21418delGAGTCCTGTGTGCAACCACAGAGCCCCT GAAGGGATGG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789598	GAAGAAGA others(31): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	86	0.0116	-38	c.83- others(57): Show c.83-121933_83-121896delGAAGAAAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTPCR_chr1_232945611_232988882	232976701	TTGACGCA others(31): Show TTGACGCAGCCAGGACCGGTAGAAATGGGATCACGGGAC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	376	0.0027	-38	c.505 others(55): Show c.505-1445_505-1408delGGTAGAAATGGGATCACGGGACTGACGC AGCCAGGACC	NTPCR	ENSG00000135778.12	transcript	ENST00000366628.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTSR1_chr20_62703836_62767771	62757917	ACTGAGCC others(31): Show ACTGAGCCCACGCCTCTGTGCCTCAGGTGCAGTGGGTCT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	316	0.0032	-38	c.917 others(53): Show c.917-299_917-262delCCTCTGTGCCTCAGGTGCAGTGGGTCTCTG AGCCCACG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62758060	CGTCTCTG others(31): Show CGTCTCTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03139.hp2 NA20300.hp1 HG01081.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0179 a0001c0001t0015g0289 a0001c0001t0015g0290 a0001c0001t0015g0179 a0001c0001t0015g0289 a0001c0001t0015g0290	3	316	0.0095	-38	c.917 others(53): Show c.917-168_917-131delTGTCTCTGTGCCTCAGGTGCAGTGGGTCTC TGAGCCCA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62758179	GTGTGCCT others(31): Show GTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(222): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0007 a0009	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0001c0016 a0005c0013 a0006c0014 a0007c0011 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0007t0003 a0001c0012t0006 a0001c0016t0002 a0005c0013t0006 a0006c0014t0001 a0007c0011t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(210): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0014 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0003g0048 a0001c0001t0003g0061 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0004g0174 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0272 a0001c0001t0006g0034 a0001c0001t0006g0042 a0001c0001t0006g0045 a0001c0001t0006g0077 a0001c0001t0006g0139 a0001c0001t0006g0162 a0001c0001t0006g0182 a0001c0001t0006g0226 a0001c0001t0009g0026 a0001c0001t0009g0046 a0001c0001t0009g0051 a0001c0001t0009g0125 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0180 a0001c0001t0009g0203 a0001c0001t0011g0029 a0001c0001t0011g0178 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0014g0009 a0001c0001t0014g0074 a0001c0001t0020g0206 a0001c0001t0020g0207 a0001c0001t0022g0197 a0001c0001t0026g0124 a0001c0001t0030g0269 a0001c0001t0032g0210 a0001c0001t0036g0198 a0001c0001t0037g0105 a0001c0001t0038g0276 a0001c0001t0039g0037 a0001c0001t0040g0247 a0001c0001t0052g0036 a0001c0001t0053g0166 a0001c0001t0054g0118 a0001c0001t0055g0237 a0001c0001t0058g0087 a0001c0001t0059g0231 a0001c0007t0003g0239 a0001c0007t0003g0240 a0001c0007t0003g0248 a0001c0012t0006g0218 a0001c0016t0002g0211 a0005c0013t0006g0059 a0006c0014t0001g0133 a0007c0011t0001g0028 a0009c0009t0001g0115	225	316	0.7120	-38	c.917 others(51): Show c.917-52_917-15delCCTCTGTGCCTCAGGTGCAGTGGGTCTCTGAG CCCACG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767377	AGAGAGAA others(31): Show AGAGAGAAAGAGAGATAGAGAAGAAAGAAAGAAAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0223 a0001c0003t0017g0223	1	316	0.0032	-38	c.71 others(49): Show c.7111_*7148delGAGAGAAAGAGAGATAGAGAAGAAAGAAAGAAAA GAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4607		chr20	TogoVar
NUDT12_chr5_103543855_103567789	103566739	GAGCCAAG others(31): Show GAGCCAAGAGATCGCACCACTGCACTCCAGCCTGGGTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	438	0.0023	-38	c.-40 others(49): Show c.-4081_-4044delTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCTT GGCT	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding		3951		chr5	TogoVar
NUDT2_chr9_34324569_34348699	34346382	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(47): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG03453.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18997.hp2 NA18998.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0193	50	436	0.1147	-38	c.29 others(49): Show c.2943_*2980delTATATATATATATATATATATATATATATATATA TATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2684		chr9	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(31): Show CACATACACACACACACACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03490.hp2 HG03492.hp2 HG00140.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032	3	322	0.0093	-38	c.126 others(55): Show c.126+3133_126+3170delATATATATATATATATGTGTGTGTGTGT GTGTGTATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP160_chr11_47773118_47853350	47850823	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02451.hp1 HG01243.hp2 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0073 a0001c0001t0001g0214 a0001c0001t0001g0215	3	338	0.0089	-38	c.-25 others(49): Show c.-2543_-2506delATATATATATATATATATATATATATATATATAT ATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2474		chr11	TogoVar
NUP210L_chr1_153987690_154160073	154125720	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAAATGTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	290	0.0035	-38	c.132 others(55): Show c.1326+565_1326+602delAAAAAACATTTCCCTCCCTCCCTTCCTT CCTTCCTTCC	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13311530	TACAGTGG others(31): Show TACAGTGGCTCCATCACAGCTCACTGCAGCCTCAAACTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02615.hp2 others(8): Show HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG06807.hp1	a0003 a0008 a0021 a0003 a0008 a0021	a0003c0006 a0008c0009 a0021c0018 a0003c0006 a0008c0009 a0021c0018	a0003c0006t0006 a0008c0009t0001 a0021c0018t0006 a0003c0006t0006 a0008c0009t0001 a0021c0018t0006	a0003c0006t0006g0051 a0003c0006t0006g0052 a0003c0006t0006g0053 others(7): Show a0003c0006t0006g0051 a0003c0006t0006g0052 a0003c0006t0006g0053 a0003c0006t0006g0055 a0003c0006t0006g0056 a0003c0006t0006g0058 a0003c0006t0006g0059 a0008c0009t0001g0004 a0008c0009t0001g0194 a0021c0018t0006g0054	11	326	0.0337	-38	c.61 others(49): Show c.6113_*6150delGAGTTTGAGGCTGCAGTGAGCTGTGATGGAGCCA CTGT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4704		chr3	TogoVar

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