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
NAALAD2_chr11_90129663_90197894	90155665	TTATTGTA others(42): Show TTATTGTATGTATGTAATACATACATACATATGTATGTATTATTATTGTA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02055.hp2 others(4): Show HG01074.hp1 HG01243.hp1 HG02055.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0337 a0001c0002t0004g0268 a0001c0002t0004g0269 others(4): Show a0001c0002t0001g0337 a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0273	7	364	0.0192	-49	c.797 others(66): Show c.797-2478_797-2430delATTGTATGTATGTAATACATACATACAT ATGTATGTATTATTATTGTAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175132063	AGGGGCGG others(42): Show AGGGGCGGCTGGCCAGGCGGGGGGCTGATTCCACCACCTCCCGCCCGGAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 NA18906.hp2 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0002 a0006c0009 a0007c0014 a0004c0002 a0006c0009 a0007c0014	a0004c0002t0006 a0006c0009t0025 a0007c0014t0004 a0004c0002t0006 a0006c0009t0025 a0007c0014t0004	a0004c0002t0006g0039 a0006c0009t0025g0035 a0007c0014t0004g0040 a0004c0002t0006g0039 a0006c0009t0025g0035 a0007c0014t0004g0040	3	64	0.0469	-49	c.545 others(68): Show c.545+34786_545+34834delAGGCGGGGGGCTGATTCCACCACCTC CCGCCCGGATGGGGCGGCTGGCC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132555	GGGGGGCT others(42): Show GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp2 HG03209.hp2 HG03579.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0010 a0004c0008t0027 a0004c0008t0010 a0004c0008t0027	a0004c0008t0010g0036 a0004c0008t0027g0051 a0004c0008t0010g0036 a0004c0008t0027g0051	2	64	0.0313	-49	c.545 others(68): Show c.545+35292_545+35340delAGACGGGGCGGCTGGCCGGGCAGGGG GCTGACCCCCCCACCTCCCTCCC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132591	CGGCTGGC others(42): Show CGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0010 a0006c0009t0010	a0006c0009t0010g0010 a0006c0009t0010g0010	1	64	0.0156	-49	c.545 others(68): Show c.545+35313_545+35361delAGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175132618	CCCACCTC others(42): Show CCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0003 a0011c0021t0003	a0011c0021t0003g0042 a0011c0021t0003g0042	1	64	0.0156	-49	c.545 others(68): Show c.545+35349_545+35397delTGGCTGGCCGGGCGGGGGGCTGACCC CTCCACCTCCCTCCCGGACGGGG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAGK_chr2_71063648_71084808	71081011	ATTATTTT others(42): Show ATTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0015 a0001c0015t0015	a0001c0015t0015g0065 a0001c0015t0015g0065	1	442	0.0023	-49	c.25 others(60): Show c.2504_*2552delTTATTTTATTTTATTTTATTTTATTTATTTTATT TTATTTTATTTTATT	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1204		chr2	TogoVar
NALF1_chr13_107158510_107872496	107203984	CCCAGGTG others(42): Show CCCAGGTGAGCTGGAGGCAGAGAGGGGCGCCCACAAGCTCTCCCTGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00738.hp1 others(28): Show HG00323.hp1 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(26): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0069 a0001c0001t0075 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0091 a0001c0002t0004 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0049 a0001c0002t0050 a0001c0002t0067 a0001c0002t0072 a0001c0005t0076 a0002c0003t0077 a0003c0004t0016	a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0004g0029 others(28): Show a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0004g0029 a0001c0001t0005g0059 a0001c0001t0013g0068 a0001c0001t0042g0044 a0001c0001t0047g0069 a0001c0001t0048g0056 a0001c0001t0056g0062 a0001c0001t0059g0036 a0001c0001t0060g0064 a0001c0001t0063g0034 a0001c0001t0069g0031 a0001c0001t0075g0096 a0001c0001t0081g0098 a0001c0001t0083g0116 a0001c0001t0085g0101 a0001c0001t0091g0115 a0001c0002t0004g0070 a0001c0002t0034g0022 a0001c0002t0036g0021 a0001c0002t0037g0073 a0001c0002t0038g0071 a0001c0002t0049g0074 a0001c0002t0050g0080 a0001c0002t0067g0075 a0001c0002t0072g0083 a0001c0005t0076g0106 a0002c0003t0077g0125 a0003c0004t0016g0111 a0003c0004t0016g0113	31	128	0.2422	-49	c.108 others(68): Show c.1087+6551_1087+6599delAGAGCAGGGAGAGCTTGTGGGCGCCC CTCTCTGCCTCCAGCTCACCTGG	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	2/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107783031	CGCCCGGC others(42): Show CGCCCGGCCAGCCGCCCCGACCGGGAGGGAGGTGGGGGGGTCAGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02976.hp2 HG03209.hp1 HG00642.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0055 a0001c0001t0070 a0001c0001t0029 a0001c0001t0055 a0001c0001t0070	a0001c0001t0029g0006 a0001c0001t0055g0067 a0001c0001t0070g0048 a0001c0001t0029g0006 a0001c0001t0055g0067 a0001c0001t0070g0048	3	128	0.0234	-49	c.915 others(68): Show c.915+82602_915+82650delAGGGGGCTGACCCCCCCACCTCCCTC CCGGTCGGGGCGGCTGGCCGGGC	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NCOA3_chr20_47496887_47661872	47525605	GCGGGGGG others(42): Show GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02630.hp1 HG01361.hp1 HG02630.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0038 a0001c0016t0037 a0001c0016t0038	a0001c0016t0037g0109 a0001c0016t0038g0296 a0001c0016t0037g0109 a0001c0016t0038g0296	2	316	0.0063	-49	c.-99 others(68): Show c.-99+23594_-99+23642delCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGACGGGGGG	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47525858	TTCCCGGA others(42): Show TTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03540.hp1 HG02615.hp1 HG02809.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310	3	316	0.0095	-49	c.-99 others(68): Show c.-99+23896_-99+23944delTGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA6_chr20_34709774_34830651	34817160	AATGTATA others(42): Show AATGTATATAAATGGGTACTACGGAACTGATATTCAACAGATTCAATATC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp1 HG01517.hp2 others(8): Show HG00621.hp1 HG01099.hp1 HG01517.hp2 HG02451.hp2 HG03834.hp1 NA18964.hp1 NA19007.hp2 NA19060.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0149 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0005c0009t0001g0101	11	290	0.0379	-49	c.-16 others(68): Show c.-164+8263_-164+8311delGATATTGAATCTGTTGAATATCAGTT CCGTAGTACCCATTTATATACAT	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCOR1_chr17_16024157_16220534	16095474	GTCCGGGA others(42): Show GTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	282	0.0036	-49	c.282 others(68): Show c.2820+2844_2820+2892delTGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCTACCTCCCTCCCGGA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NDC1_chr1_53760478_53843296	53832266	GTATAAGT others(42): Show GTATAAGTAGAATCATATAATATTTGTCCTAAAAAGTCTAAAAATATTTT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0128 a0003c0004t0001g0128	1	196	0.0051	-49	c.280 others(64): Show c.280+175_280+223delAAAATATTTTTAGACTTTTTAGGACAAATA TTATATGATTCTACTTATA	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	3/17			chr1	TogoVar
NDC80_chr18_2566557_2621635	2614559	GGAAGGGA others(42): Show GGAAGGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	402	0.0025	-49	c.179 others(68): Show c.1792-1874_1792-1826delGGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDUFAF1_chr15_41382353_41407496	41382590	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0002t0001g0244 a0001c0001t0001g0057 a0001c0002t0001g0244	2	354	0.0057	-49	c.48 others(60): Show c.4805_*4853delCGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGA	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4762		chr15	TogoVar
NDUFAF1_chr15_41382353_41407496	41382636	GCCGTCCG others(42): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0283 a0002c0003t0003g0283	1	354	0.0028	-49	c.47 others(60): Show c.4759_*4807delGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGG	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4716		chr15	TogoVar
NDUFAF1_chr15_41382353_41407496	41383101	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA18959.hp2 HG03540.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0024 a0001c0001t0001g0089	2	354	0.0057	-49	c.42 others(60): Show c.4294_*4342delGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4251		chr15	TogoVar
NEK5_chr13_52028611_52134073	52064161	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG03139.hp2 HG02258.hp1 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0299 a0001c0004t0019g0300 a0001c0004t0019g0301 a0001c0004t0019g0299 a0001c0004t0019g0300 a0001c0004t0019g0301	3	334	0.0090	-49	c.197 others(68): Show c.1975+1274_1975+1322delGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGAC	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	21/23			chr13	TogoVar
NEK5_chr13_52028611_52134073	52080216	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0018 a0001c0003t0013g0018	1	334	0.0030	-49	c.157 others(68): Show c.1572+2995_1572+3043delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCC	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	17/23			chr13	TogoVar
NEU1_chr6_31852659_31867821	31854310	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	419	0.0024	-49	c.53 others(60): Show c.5360_*5408delACCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3348		chr6	TogoVar
NF2_chr22_29598633_29703598	29643910	GGGCGGGG others(42): Show GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0312	1	344	0.0029	-49	c.447 others(66): Show c.447+1645_447+1693delAACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCCCCC	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NF2_chr22_29598633_29703598	29643930	AACCTCCC others(42): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp1 HG02056.hp2 others(11): Show HG01070.hp2 HG01106.hp1 HG02056.hp2 HG02080.hp1 HG02258.hp2 HG02559.hp1 HG02647.hp1 HG02683.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp2 NA18747.hp1 NA18948.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 others(2): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0050 a0001c0001t0054	a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0076 others(11): Show a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0011g0079 a0001c0001t0011g0080 a0001c0001t0011g0082 a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0021g0066 a0001c0001t0021g0075 a0001c0001t0021g0081 a0001c0001t0050g0046 a0001c0001t0054g0282	14	344	0.0407	-49	c.447 others(66): Show c.447+1678_447+1726delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCTGGC	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFATC3_chr16_68080370_68234259	68201820	CGATGGTG others(42): Show CGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGGCATAGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00738.hp2 others(43): Show HG00438.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02132.hp2 HG02602.hp2 HG03098.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18940.hp1 NA18941.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19010.hp2 NA19060.hp2 NA19064.hp2 NA19081.hp1 NA19090.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0004c0005t0004 a0004c0005t0022	a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 others(43): Show a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0004g0131 a0001c0001t0004g0138 a0001c0001t0004g0142 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0019g0170 a0001c0001t0019g0172 a0001c0001t0021g0158 a0001c0001t0023g0134 a0001c0001t0024g0168 a0001c0001t0025g0130 a0001c0001t0026g0159 a0004c0005t0004g0144 a0004c0005t0022g0143	46	188	0.2447	-49	c.310 others(70): Show c.3106+10046_3106+10094delGATGGTGCATGCCTGTAGTCCCAG CTACTTGGGAGGCTGGCATAGGAGA	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	9/9			chr16	TogoVar
NGB_chr14_77260483_77276206	77269667	TTTCTCTC others(42): Show TTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	366	0.0027	-49	c.90- others(62): Show c.90-390_90-342delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269678	CTCTCTCT others(42): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02071.hp2 HG02109.hp2 others(5): Show HG01978.hp2 HG02071.hp2 HG02109.hp2 HG02280.hp2 HG02895.hp1 HG03834.hp2 HG03942.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0109 a0001c0001t0001g0116 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0164 a0001c0001t0001g0213 a0001c0001t0001g0225	8	366	0.0219	-49	c.90- others(62): Show c.90-401_90-353delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232906161	GGGAGGTG others(42): Show GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG02738.hp1 others(4): Show HG01192.hp1 HG01261.hp1 HG02738.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0003t0010	a0001c0001t0001g0125 a0001c0001t0006g0207 a0001c0001t0008g0161 others(4): Show a0001c0001t0001g0125 a0001c0001t0006g0207 a0001c0001t0008g0161 a0001c0001t0008g0230 a0001c0001t0014g0130 a0001c0001t0016g0238 a0001c0003t0010g0148	7	362	0.0193	-49	c.829 others(68): Show c.829-11294_829-11246delTTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906383	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCACCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0248 a0001c0005t0016g0248	1	362	0.0028	-49	c.829 others(68): Show c.829-11516_829-11468delAGACGGGGTGGCTGACCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLRP5_chr19_55994726_56066810	56005576	CACACACG others(42): Show CACACACGCACACACGCAGGTGGCATGCCTGTACACACATATATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01943.hp2 HG02040.hp1 others(10): Show HG00673.hp1 HG01943.hp2 HG02040.hp1 HG02293.hp2 NA18969.hp2 NA18990.hp2 NA18998.hp2 NA19056.hp1 NA19065.hp2 NA19077.hp1 NA19082.hp1 NA19088.hp2 NA20129.hp1	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0009 a0011 a0015	a0001c0009 a0001c0123 a0001c0124 others(5): Show a0001c0009 a0001c0123 a0001c0124 a0005c0034 a0006c0128 a0009c0054 a0011c0033 a0015c0117	a0001c0009t0001 a0001c0123t0001 a0001c0124t0001 others(5): Show a0001c0009t0001 a0001c0123t0001 a0001c0124t0001 a0005c0034t0001 a0006c0128t0002 a0009c0054t0001 a0011c0033t0001 a0015c0117t0002	a0001c0009t0001g0332 a0001c0009t0001g0333 a0001c0009t0001g0335 others(10): Show a0001c0009t0001g0332 a0001c0009t0001g0333 a0001c0009t0001g0335 a0001c0009t0001g0341 a0001c0123t0001g0342 a0001c0124t0001g0331 a0005c0034t0001g0334 a0005c0034t0001g0337 a0005c0034t0001g0338 a0006c0128t0002g0339 a0009c0054t0001g0326 a0011c0033t0001g0340 a0015c0117t0002g0336	13	396	0.0328	-49	c.442 others(66): Show c.442+1488_442+1536delGCACACACGCAGGTGGCATGCCTGTACA CACATATATATTTATACACAC	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME6_chr3_48287317_48306367	48306204	CTTCTAGA others(42): Show CTTCTAGATTCCTAGAAATATGCCAGAGCTTTTCAAAAGCTCCATGGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	324	0.0031	-49	c.-49 others(60): Show c.-4908_-4860delTGTCCATGGAGCTTTTGAAAAGCTCTGGCATATT TCTAGGAATCTAGAA	NME6	ENSG00000172113.10	transcript	ENST00000442597.6	protein_coding		4838		chr3	TogoVar
NMNAT2_chr1_183243237_183423380	183389804	GAAAGAAA others(42): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0051 a0001c0001t0052g0051	1	258	0.0039	-49	c.85+ others(66): Show c.85+28330_85+28378delTCTTTTTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NOC2L_chr1_939203_964256	939436	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	422	0.0024	-49	c.52 others(60): Show c.5209_*5257delAGATCATGCCAGGGTGGGTCCTCACCGTGGCTGG GGAGGTGATGAGGGG	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding		4766		chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535623	AGAGGGGA others(42): Show AGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02970.hp2 others(3): Show HG01109.hp1 HG02647.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp2 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0025 a0004c0021	a0001c0001t0002 a0001c0001t0013 a0001c0004t0004 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0004t0004 a0001c0008t0013 a0001c0025t0016 a0004c0021t0004	a0001c0001t0002g0166 a0001c0001t0013g0030 a0001c0004t0004g0165 others(3): Show a0001c0001t0002g0166 a0001c0001t0013g0030 a0001c0004t0004g0165 a0001c0008t0013g0167 a0001c0025t0016g0168 a0004c0021t0004g0029	6	324	0.0185	-49	c.140 others(66): Show c.140+8352_140+8400delGACCCACCCTGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCTC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPBWR2_chr20_64098802_64112565	64104492	TACAGGGG others(42): Show TACAGGGGAGCACAGGCCATGGAGAGGACCGTCAGACACAGCAGGGGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0106 a0001c0002t0106	a0001c0002t0106g0078 a0001c0002t0106g0078	1	355	0.0028	-49	c.12 others(60): Show c.1289_*1337delGCCCCCCTGCTGTGTCTGACGGTCCTCTCCATGG CCTGTGCTCCCCTGT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	1289		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64104811	CCACAGCA others(42): Show CCACAGCAGGGGGGTACAGGGGAGCACAGGCCATGGAGAGGACCGTCGGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0133 a0001c0002t0090g0133	1	355	0.0028	-49	c.97 others(59): Show c.970_*1018delTCCGACGGTCCTCTCCATGGCCTGTGCTCCCCTGT ACCCCCCTGCTGTG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	970		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5884448	GACAACCA others(42): Show GACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp1 others(97): Show HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0008 a0009 a0012 a0014	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0017 a0001c0024 a0001c0025 a0001c0029 a0001c0036 a0004c0009 a0004c0016 a0006c0012 a0008c0037 a0009c0013 a0012c0019 a0014c0027	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0015t0001 a0001c0017t0001 a0001c0024t0001 a0001c0025t0001 a0001c0029t0001 a0001c0036t0001 a0004c0009t0001 a0004c0016t0001 a0006c0012t0001 a0008c0037t0001 a0009c0013t0001 a0012c0019t0001 a0014c0027t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0003t0001g0119 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0004t0001g0044 a0001c0004t0001g0058 a0001c0004t0001g0158 a0001c0004t0001g0174 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0194 a0001c0011t0001g0032 a0001c0011t0001g0035 a0001c0015t0001g0012 a0001c0017t0001g0188 a0001c0024t0001g0039 a0001c0025t0001g0079 a0001c0029t0001g0073 a0001c0036t0001g0040 a0004c0009t0001g0186 a0004c0009t0001g0192 a0004c0016t0001g0184 a0006c0012t0001g0023 a0006c0012t0001g0069 a0008c0037t0001g0006 a0009c0013t0001g0042 a0012c0019t0001g0176 a0014c0027t0001g0071	100	208	0.4808	-49	c.248 others(68): Show c.2485+2789_2485+2837delGGAGTAGGACGGGGGCTCGGCTGGGA GCTTGGGCAGTGATCTTGGTTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988744	GCCTTGGC others(42): Show GCCTTGGCCCAGGGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCAT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	208	0.0048	-49	c.-38 others(66): Show c.-38-2466_-38-2418delATGCAGCGTCTGGGTGCACTGTGGGTGG AGGCGGGACCCTGGGCCAAGG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPM1_chr5_171382849_171415900	171403641	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01081.hp1 others(21): Show HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01346.hp2 HG01496.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG04228.hp1 NA18940.hp2 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18963.hp1 NA18982.hp2 NA18984.hp1 NA19001.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0217	24	402	0.0597	-49	c.670 others(66): Show c.670-1638_670-1590delGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPM1_chr5_171382849_171415900	171404078	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02451.hp1 others(5): Show HG00639.hp1 HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0098 a0003c0004t0001g0083	8	402	0.0199	-49	c.670 others(66): Show c.670-1192_670-1144delCGGCACGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCCCGGA	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPM1_chr5_171382849_171415900	171404110	CGGCACGG others(42): Show CGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	402	0.0025	-49	c.670 others(66): Show c.670-1178_670-1130delAGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGCACGGCTGGCC	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NRGN_chr11_124734942_124752210	124748102	TACCTTCG others(42): Show TACCTTCGGAACAGAAAAGTAAACTTTATTAAATATGAGGAGGGGCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-49	c.17 others(60): Show c.1723_*1771delACCTTCGGAACAGAAAAGTAAACTTTATTAAATA TGAGGAGGGGCAGGG	NRGN	ENSG00000154146.13	transcript	ENST00000284292.11	protein_coding		893		chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978593	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03471.hp1 HG02922.hp2 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0008 a0001c0001t0024g0284 a0001c0001t0024g0285 a0001c0001t0006g0008 a0001c0001t0024g0284 a0001c0001t0024g0285	3	406	0.0074	-49	c.49 others(60): Show c.4903_*4951delGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1982		chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978885	GTCCGGGA others(42): Show GTCCGGGAGGGTTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0275 a0001c0001t0026g0275	1	406	0.0025	-49	c.46 others(60): Show c.4611_*4659delTGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCAACCCTCCCGGA	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1690		chr11	TogoVar
NRXN2_chr11_64601174_64728197	64701942	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02723.hp1 HG01109.hp1 HG02486.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017	3	308	0.0097	-49	c.731 others(66): Show c.731-4199_731-4151delCGGACGGGGCAGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78943614	AAAAAAAA others(42): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03225.hp2 HG03453.hp2 others(3): Show HG01081.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0010 a0001c0001t0013 a0001c0003t0004 others(3): Show a0001c0001t0010 a0001c0001t0013 a0001c0003t0004 a0001c0004t0001 a0001c0004t0005 a0001c0007t0002	a0001c0001t0010g0006 a0001c0001t0013g0007 a0001c0003t0004g0015 others(3): Show a0001c0001t0010g0006 a0001c0001t0013g0007 a0001c0003t0004g0015 a0001c0004t0001g0005 a0001c0004t0005g0003 a0001c0007t0002g0020	6	24	0.2500	-49	c.227 others(70): Show c.2276-13626_2276-13578delAAAAAAATATATATATATATATAT ATATATATATATATATATATATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSL1_chr1_212721153_212796777	212779513	GGTCAGCC others(42): Show GGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02559.hp1 others(4): Show HG01109.hp1 HG01891.hp2 HG02559.hp1 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0025 a0002c0002t0093 a0002c0002t0094 others(1): Show a0002c0002t0025 a0002c0002t0093 a0002c0002t0094 a0003c0003t0027	a0002c0002t0025g0118 a0002c0002t0025g0119 a0002c0002t0025g0120 others(4): Show a0002c0002t0025g0118 a0002c0002t0025g0119 a0002c0002t0025g0120 a0002c0002t0093g0117 a0002c0002t0094g0116 a0003c0003t0027g0304 a0003c0003t0027g0305	7	364	0.0192	-49	c.499 others(66): Show c.499+2810_499+2858delACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCGGGGGGCTGAC	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212779537	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCACCCGGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 NA19043.hp1 HG02559.hp2 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0022 a0001c0001t0035	a0001c0001t0022g0122 a0001c0001t0035g0121 a0001c0001t0035g0123 a0001c0001t0022g0122 a0001c0001t0035g0121 a0001c0001t0035g0123	3	364	0.0082	-49	c.499 others(66): Show c.499+2786_499+2834delTGGCTGGCCGGGTGGGGGGCTGACACCC CCACCTCCCTCCCGGACGGGG	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212779705	GGCCAGCC others(42): Show GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp1 others(82): Show HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19075.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0010 a0002c0002 a0003c0003 a0004c0010	a0002c0002t0013 a0002c0002t0039 a0002c0002t0104 others(35): Show a0002c0002t0013 a0002c0002t0039 a0002c0002t0104 a0002c0002t0108 a0002c0002t0113 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0020 a0003c0003t0027 a0003c0003t0028 a0003c0003t0029 a0003c0003t0030 a0003c0003t0031 a0003c0003t0032 a0003c0003t0033 a0003c0003t0046 a0003c0003t0048 a0003c0003t0049 a0003c0003t0050 a0003c0003t0051 a0003c0003t0052 a0003c0003t0054 a0003c0003t0055 a0003c0003t0056 a0003c0003t0057 a0003c0003t0058 a0003c0003t0059 a0003c0003t0060 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0068 a0004c0010t0009	a0002c0002t0013g0097 a0002c0002t0013g0098 a0002c0002t0013g0099 others(77): Show a0002c0002t0013g0097 a0002c0002t0013g0098 a0002c0002t0013g0099 a0002c0002t0013g0101 a0002c0002t0013g0103 a0002c0002t0039g0094 a0002c0002t0039g0102 a0002c0002t0104g0029 a0002c0002t0108g0105 a0002c0002t0113g0100 a0002c0002t0114g0096 a0002c0002t0115g0095 a0002c0002t0116g0104 a0003c0003t0004g0012 a0003c0003t0004g0298 a0003c0003t0004g0300 a0003c0003t0004g0302 a0003c0003t0004g0312 a0003c0003t0004g0313 a0003c0003t0004g0315 a0003c0003t0004g0317 a0003c0003t0004g0318 a0003c0003t0004g0319 a0003c0003t0004g0322 a0003c0003t0004g0326 a0003c0003t0004g0327 a0003c0003t0004g0329 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0337 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0342 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0347 a0003c0003t0009g0003 a0003c0003t0009g0306 a0003c0003t0009g0308 a0003c0003t0009g0309 a0003c0003t0009g0310 a0003c0003t0015g0316 a0003c0003t0015g0320 a0003c0003t0015g0323 a0003c0003t0015g0345 a0003c0003t0020g0325 a0003c0003t0020g0331 a0003c0003t0020g0332 a0003c0003t0027g0304 a0003c0003t0027g0305 a0003c0003t0028g0333 a0003c0003t0028g0346 a0003c0003t0029g0011 a0003c0003t0030g0013 a0003c0003t0031g0291 a0003c0003t0031g0295 a0003c0003t0032g0289 a0003c0003t0032g0293 a0003c0003t0033g0303 a0003c0003t0033g0321 a0003c0003t0046g0324 a0003c0003t0048g0314 a0003c0003t0049g0338 a0003c0003t0050g0284 a0003c0003t0051g0292 a0003c0003t0052g0299 a0003c0003t0054g0328 a0003c0003t0055g0290 a0003c0003t0056g0330 a0003c0003t0057g0294 a0003c0003t0058g0285 a0003c0003t0059g0286 a0003c0003t0060g0296 a0003c0003t0061g0297 a0003c0003t0062g0301 a0003c0003t0063g0283 a0003c0003t0064g0311 a0003c0003t0068g0341 a0004c0010t0009g0307	85	364	0.2335	-49	c.499 others(66): Show c.499+2618_499+2666delTGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGC	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212779718	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0256 a0001c0001t0103g0256	1	364	0.0028	-49	c.499 others(66): Show c.499+2605_499+2653delCGGGGCGGCTGGCTGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGA	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212779754	AGCCAGCC others(42): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03195.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG03195.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0080 a0001c0001t0081 others(1): Show a0001c0001t0003 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084	a0001c0001t0003g0169 a0001c0001t0080g0170 a0001c0001t0081g0172 others(1): Show a0001c0001t0003g0169 a0001c0001t0080g0170 a0001c0001t0081g0172 a0001c0001t0084g0171	4	364	0.0110	-49	c.499 others(66): Show c.499+2569_499+2617delCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGC	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212779804	GCCAGCCG others(42): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	364	0.0028	-49	c.499 others(66): Show c.499+2519_499+2567delTCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGG	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar

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Search Results (Total: 10000 hits)