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
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0007	1	24	0.0417	26	c.344 others(47): Show c.3444+41004_3444+41005insTTTTTTTTTTTTTTTTTTTTTTTT TT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79719402	G G	GTATATAT others(19): Show GTATATATATGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01081.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0005 a0001c0006t0001g0023 a0001c0004t0001g0005 a0001c0006t0001g0023	2	24	0.0833	26	c.401 others(47): Show c.4014+21474_4014+21475insGTGTGTATATATATATATATATAT AT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79719402	G G	GTATATAT others(19): Show GTATATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	24	0.0417	26	c.401 others(47): Show c.4014+21474_4014+21475insGTGTGTGTATATATATATATATAT AT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177207593	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0133 a0001c0003t0002g0133	1	298	0.0034	26	c.123 others(45): Show c.1237-2039_1237-2014dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872587	T T	TGAGAGAG others(19): Show TGAGAGAGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	130	0.0077	26	c.-30 others(43): Show c.-30+1046_-30+1047insAGAGAGTGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(19): Show TGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	130	0.0077	26	c.-30 others(43): Show c.-30+1050_-30+1051insTGTGTGTGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872633	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	130	0.0077	26	c.-30 others(43): Show c.-30+1094_-30+1095insAGAGAGAGAGAGAGAGAGAGCGCGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(19): Show ACAACACAACACAACACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03704.hp2 HG03540.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0051 a0001c0001t0001g0103	2	394	0.0051	26	c.357 others(43): Show c.357+2101_357+2102insCAACACAACACAACACAAAACAAAAC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4			chr4	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(19): Show ACAACACAACACAACACAACACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02257.hp1 others(6): Show HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02647.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0183 others(6): Show a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0183 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0288 a0001c0001t0013g0285 a0001c0001t0013g0286	9	394	0.0228	26	c.357 others(43): Show c.357+2101_357+2102insCAACACAACACAACACAACACAAAAC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4			chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27251159	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	334	0.0030	26	c.136 others(43): Show c.136+6250_136+6275dupATATATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	334	0.0030	26	c.136 others(43): Show c.136+6245_136+6246insTTATATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125263830	C C	CTAGCGTG others(19): Show CTAGCGTGTAAATCAGCTCTAGCGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG03225.hp1 others(1): Show HG02818.hp2 HG03098.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0179	4	244	0.0164	26	c.418 others(45): Show c.418+81574_418+81575insTAGCGTGTAAATCAGCTCTAGCGTGT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp1 NA19088.hp1 HG02145.hp1 HG02698.hp1 NA19088.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0013 a0003c0003t0003 a0004c0004t0013	a0003c0003t0003g0192 a0003c0003t0003g0210 a0004c0004t0013g0329 a0003c0003t0003g0192 a0003c0003t0003g0210 a0004c0004t0013g0329	3	388	0.0077	26	c.754 others(41): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp2 HG03486.hp2 others(2): Show HG00408.hp1 HG02132.hp2 HG03486.hp2 HG03491.hp2 NA18986.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0045 a0003c0003t0003 a0003c0003t0049 a0001c0001t0045 a0003c0003t0003 a0003c0003t0049	a0001c0001t0045g0132 a0003c0003t0003g0170 a0003c0003t0003g0196 others(2): Show a0001c0001t0045g0132 a0003c0003t0003g0170 a0003c0003t0003g0196 a0003c0003t0003g0212 a0003c0003t0049g0208	5	388	0.0129	26	c.754 others(41): Show c.754-454_754-453insAAAAAAAAAATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(19): Show TATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18939.hp1 NA18952.hp1 others(5): Show HG00423.hp1 NA18939.hp1 NA18952.hp1 NA18984.hp2 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19068.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0008c0005t0010 a0001c0001t0001 a0008c0005t0010	a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0131 a0008c0005t0010g0081	8	346	0.0231	26	c.658 others(43): Show c.658-4633_658-4632insGTATGTATATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0009 a0001c0001t0001g0034	2	346	0.0058	26	c.658 others(43): Show c.658-4633_658-4632insGTGTATATATATATATATATATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183275	A A	ATATATAT others(19): Show ATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04228.hp2 HG01433.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0058 a0001c0002t0003g0059	2	340	0.0059	26	c.-16 others(45): Show c.-168-1948_-168-1947insATATATATATATATAAAATATATATA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0294 a0001c0001t0017g0294	1	300	0.0033	26	c.529 others(45): Show c.529+45197_529+45198insAATATATATATATATATATATATATA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC4_chr2_112716020_112744095	112720010	T T	TCCTTCCT others(19): Show TCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG04204.hp1 HG03688.hp2 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0047 a0003c0003t0002g0056 a0003c0003t0002g0047 a0003c0003t0002g0056	2	364	0.0055	26	c.-10 others(37): Show c.-1070_-1069insCCTTCCTTCCTTCCTTCCTTCCTTCC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1009		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112723394	C C	CACACACA others(19): Show CACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0259 a0004c0004t0001g0259	1	364	0.0028	26	c.622 others(39): Show c.622-23_622-22insCACACACACACACACACACACACAGA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	131401806	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	86	0.0116	26	c.82+ others(43): Show c.82+30941_82+30942insGTGTATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp1 HG02451.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0085 a0001c0002t0001g0010 a0001c0001t0001g0085 a0001c0002t0001g0010	2	86	0.0233	26	c.82+ others(43): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131432839	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	86	0.0116	26	c.82+ others(43): Show c.82+61958_82+61983dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131834625	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0006 a0001c0002t0002 a0002c0003t0006	a0001c0002t0002g0065 a0002c0003t0006g0071 a0001c0002t0002g0065 a0002c0003t0006g0071	2	86	0.0233	26	c.83- others(43): Show c.83-76919_83-76918insATATATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9114162	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	258	0.0039	26	c.101 others(47): Show c.1019-48650_1019-48649insTATATATATATATATATATATATA TA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	258	0.0039	26	c.101 others(47): Show c.1019-48646_1019-48645insAAAATATATATATATATATATATA TA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0134 a0001c0002t0010g0134	1	258	0.0039	26	c.141 others(47): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAAAAACAAAA AA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK2_chr9_84664729_85032054	84798912	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0040 a0001c0001t0012g0040	1	170	0.0059	26	c.139 others(47): Show c.1396+46831_1396+46856dupATATATATATATATATATATATAT AT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0069 a0001c0001t0054g0069	1	170	0.0059	26	c.163 others(45): Show c.1633+2901_1633+2902insGTGTGTATATATATATATATATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03486.hp1 HG01256.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0013 a0001c0001t0004 a0001c0002t0013	a0001c0001t0004g0048 a0001c0002t0013g0113 a0001c0001t0004g0048 a0001c0002t0013g0113	2	170	0.0118	26	c.163 others(45): Show c.1633+2901_1633+2902insGTGTGTGTGTGTATATATATATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84870331	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19070.hp2 HG01106.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0042 a0001c0001t0001 a0001c0002t0042	a0001c0001t0001g0047 a0001c0002t0042g0041 a0001c0001t0001g0047 a0001c0002t0042g0041	2	170	0.0118	26	c.163 others(45): Show c.1633+2901_1633+2902insGTGTGTGTGTGTGTATATATATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	87886676	C C	CTACATAT others(19): Show CTACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0038 a0001c0005t0018g0038	1	134	0.0075	26	c.213 others(43): Show c.2134-942_2134-941insTATATATATATATATATATATATGTA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87886676	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0017 a0001c0003t0007g0017	1	134	0.0075	26	c.213 others(43): Show c.2134-942_2134-941insTATATATATATATATATATATATATA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87886699	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0010 a0001c0002t0052g0010	1	134	0.0075	26	c.213 others(43): Show c.2134-965_2134-964insGTGTGTATATATATATATATATATAT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	87886699	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA20129.hp1 HG01167.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0068 a0001c0002t0002 a0001c0001t0068 a0001c0002t0002	a0001c0001t0068g0012 a0001c0002t0002g0101 a0001c0001t0068g0012 a0001c0002t0002g0101	2	134	0.0149	26	c.213 others(43): Show c.2134-965_2134-964insGTATATATATATATATATATATATAT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	17/19			chr15	TogoVar
NTRK3_chr15_87854751_88261739	88033176	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0040 a0001c0005t0018g0040	1	134	0.0075	26	c.139 others(43): Show c.1397-157_1397-132dupTATATATATATATATATATATATATA	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	13/19			chr15	TogoVar
NUBP1_chr16_10738842_10774351	10749120	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0234	1	424	0.0024	26	c.258 others(43): Show c.258+1849_258+1850insCACACACACACACACACACACACACA	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02258.hp2 HG04228.hp1 others(7): Show HG01169.hp1 HG02258.hp2 HG04228.hp1 NA18971.hp2 NA19001.hp1 NA19064.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016	a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0160 others(7): Show a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0160 a0001c0001t0003g0167 a0001c0001t0003g0194 a0001c0001t0004g0155 a0001c0001t0007g0165 a0001c0001t0007g0232 a0001c0001t0009g0262 a0001c0001t0016g0188	10	268	0.0373	26	c.383 others(43): Show c.383-7092_383-7091insTATATATATATATATATATATTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(19): Show ATATATATATATATATATTTATTATTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	268	0.0037	26	c.383 others(43): Show c.383-7092_383-7091insTATATATATATATATATTTATTATTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(19): Show ATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG04115.hp2 HG00558.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0255 a0001c0001t0004g0106 a0001c0001t0001g0255 a0001c0001t0004g0106	2	268	0.0075	26	c.383 others(43): Show c.383-7092_383-7091insTATATATATATATATATTTATTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(19): Show TGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp2 HG04184.hp1 HG01978.hp1 HG02109.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0254 a0001c0001t0002g0250 a0001c0001t0006g0148 a0001c0001t0001g0254 a0001c0001t0002g0250 a0001c0001t0006g0148	3	268	0.0112	26	c.514 others(45): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0143 a0001c0001t0002g0144	2	268	0.0075	26	c.514 others(45): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0222 a0001c0001t0008g0222	1	268	0.0037	26	c.514 others(45): Show c.514-27635_514-27634insTGTGTGTGTGTGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	268	0.0037	26	c.514 others(45): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	268	0.0037	26	c.514 others(45): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	360	0.0028	26	c.-1+ others(41): Show c.-1+5983_-1+6008dupCACACACACACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCKS1_chr1_205707822_205755182	205732779	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0290 a0001c0001t0009g0290	1	368	0.0027	26	c.18- others(41): Show c.18-3159_18-3158insTTTTTTTTTTTTTTTTTTTTTTTTTT	NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	1/6			chr1	TogoVar
NUDC_chr1_26916743_26951871	26927187	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0232 a0001c0001t0014g0216 a0001c0001t0002g0232 a0001c0001t0014g0216	2	254	0.0079	26	c.159 others(43): Show c.159+3035_159+3036insGTGTGTGTGTGTGTGTGTGTGTGTGT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(19): Show GGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18962.hp1 NA18974.hp2 others(2): Show HG03688.hp2 NA18962.hp1 NA18974.hp2 NA18983.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0002g0139 a0001c0001t0003g0051 a0001c0001t0002g0040 a0001c0001t0002g0139 a0001c0001t0003g0051	5	438	0.0114	26	c.797 others(43): Show c.797-1183_797-1182insATATATATATATATATATATATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTGTATA others(19): Show GGTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04228.hp2 HG02056.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	2	438	0.0046	26	c.797 others(43): Show c.797-1183_797-1182insATATATATATATATATATATATACAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar

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