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
NAALADL2_chr3_174854334_175815548	174930614	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0033 a0002c0004t0033	a0002c0004t0033g0022 a0002c0004t0033g0022	1	64	0.0156	26	c.43+ others(43): Show c.43+71189_43+71190insTTTTTTTTTTTTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175093412	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0021 a0004c0002t0021	a0004c0002t0021g0003 a0004c0002t0021g0003	1	64	0.0156	26	c.44- others(41): Show c.44-3377_44-3376insATATATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175181713	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATGCATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03453.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0003c0007 a0005c0006 a0002c0004 a0003c0007 a0005c0006	a0002c0004t0001 a0003c0007t0001 a0005c0006t0020 a0002c0004t0001 a0003c0007t0001 a0005c0006t0020	a0002c0004t0001g0044 a0003c0007t0001g0064 a0005c0006t0020g0052 a0002c0004t0001g0044 a0003c0007t0001g0064 a0005c0006t0020g0052	3	64	0.0469	26	c.546 others(45): Show c.546-52213_546-52212insGTGTGTGTGTATGCATATATATGTGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175181719	A A	ATATGCAT others(19): Show ATATGCATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0028 a0002c0004t0003g0028	1	64	0.0156	26	c.546 others(45): Show c.546-52209_546-52208insGCATATATATGTGTATATATATGTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175206244	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0028 a0010c0020t0028	a0010c0020t0028g0001 a0010c0020t0028g0001	1	64	0.0156	26	c.546 others(45): Show c.546-27668_546-27667insATATATATATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175423028	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0027 a0001c0001t0035g0027	1	64	0.0156	26	c.109 others(47): Show c.1091-24200_1091-24199insAAAATATATATATATATATATATA TA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175423028	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0026 a0004c0002t0026	a0004c0002t0026g0011 a0004c0002t0026g0011	1	64	0.0156	26	c.109 others(47): Show c.1091-24200_1091-24199insAATATATATATATATATATATATA TA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175463701	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0003 a0011c0021t0003	a0011c0021t0003g0042 a0011c0021t0003g0042	1	64	0.0156	26	c.132 others(43): Show c.1327+218_1327+243dupAGAGAGAGAGAGAGAGAGAGAGAGAG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175495073	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0008 a0005c0006t0015g0008	1	64	0.0156	26	c.165 others(47): Show c.1653+23335_1653+23336insATATATATATATATATATATATAT AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175501424	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG01261.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0004 a0001c0013 a0002c0004	a0001c0013t0007 a0002c0004t0014 a0001c0013t0007 a0002c0004t0014	a0001c0013t0007g0021 a0002c0004t0014g0058 a0001c0013t0007g0021 a0002c0004t0014g0058	2	64	0.0313	26	c.165 others(47): Show c.1653+29685_1653+29686insCACACACACACACACACACACACA CA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(19): Show AATTTATATTAAATGTAAATTTAATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02258.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG02258.hp2 HG02717.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0002 a0008c0018 a0001c0001 a0004c0002 a0008c0018	a0001c0001t0037 a0004c0002t0008 a0004c0002t0034 others(1): Show a0001c0001t0037 a0004c0002t0008 a0004c0002t0034 a0008c0018t0001	a0001c0001t0037g0038 a0004c0002t0008g0006 a0004c0002t0034g0055 others(1): Show a0001c0001t0037g0038 a0004c0002t0008g0006 a0004c0002t0034g0055 a0008c0018t0001g0043	4	64	0.0625	26	c.189 others(47): Show c.1896+43150_1896+43151insATATTTATATTAAATGTAAATTTA AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175697859	A A	ATATATGT others(19): Show ATATATGTATGTATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0028 a0002c0004t0003g0028	1	64	0.0156	26	c.189 others(47): Show c.1897-39441_1897-39416dupGTATGTATACATATATATGTGTAT AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175698317	G G	GTATACAT others(19): Show GTATACATATATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0064 a0003c0007t0001g0064	1	64	0.0156	26	c.189 others(47): Show c.1897-38988_1897-38987insATACATATATATGTGTATATATGT AT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NADK2_chr5_36187589_36246925	36213618	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01168.hp1 others(34): Show HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02735.hp1 HG03017.hp1 HG03225.hp2 HG03491.hp2 HG03654.hp2 HG03710.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp2 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19076.hp2 NA19079.hp1 NA20905.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0007 a0001c0001 a0004c0008 a0005c0007	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0046 a0001c0001t0051 a0004c0008t0050 a0005c0007t0003	a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0038 others(23): Show a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0239 a0001c0001t0006g0048 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0280 a0001c0001t0019g0245 a0001c0001t0019g0248 a0001c0001t0020g0049 a0001c0001t0020g0283 a0001c0001t0024g0211 a0001c0001t0024g0220 a0001c0001t0046g0213 a0001c0001t0051g0232 a0004c0008t0050g0241 a0005c0007t0003g0231	37	384	0.0964	26	c.782 others(43): Show c.782-1697_782-1696insATATATATATATATATATATATATAT	NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11			chr5	TogoVar
NALCN_chr13_101048776_101421508	101177409	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0008 a0001c0001t0008 a0001c0006t0008	a0001c0001t0008g0017 a0001c0006t0008g0047 a0001c0001t0008g0017 a0001c0006t0008g0047	2	176	0.0114	26	c.176 others(45): Show c.1765-1036_1765-1035insTATATATATATATATATATATATATA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	14/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101345737	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp2 HG02886.hp2 others(4): Show HG00408.hp2 HG01192.hp2 HG02886.hp2 HG03486.hp2 HG03540.hp1 NA18950.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0018 a0001c0025	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0005t0011 a0001c0018t0003 a0001c0025t0004	a0001c0001t0001g0011 a0001c0001t0008g0012 a0001c0002t0002g0131 others(4): Show a0001c0001t0001g0011 a0001c0001t0008g0012 a0001c0002t0002g0131 a0001c0003t0001g0039 a0001c0005t0011g0073 a0001c0018t0003g0014 a0001c0025t0004g0027	7	176	0.0398	26	c.645 others(41): Show c.645-343_645-318dupATATATATATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	176	0.0057	26	c.645 others(41): Show c.645-668_645-667insTATATATATATATATAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	176	0.0057	26	c.645 others(41): Show c.645-668_645-667insTATATATATATAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18962.hp2 HG01496.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0110 a0001c0003t0001g0098 a0001c0003t0001g0110	2	176	0.0114	26	c.645 others(41): Show c.645-668_645-667insTATATATATAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18962.hp1 HG02027.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0066 a0001c0001t0006g0121 a0001c0001t0001g0066 a0001c0001t0006g0121	2	176	0.0114	26	c.645 others(41): Show c.645-668_645-667insTATATAGAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101346087	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	176	0.0057	26	c.645 others(41): Show c.645-668_645-667insTATAGAGAGAGAGAGAGAGAGAGAGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101415228	T T	TATATATA others(19): Show TATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01099.hp2 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0021t0005 a0001c0003t0001 a0001c0021t0005	a0001c0003t0001g0034 a0001c0021t0005g0035 a0001c0003t0001g0034 a0001c0021t0005g0035	2	176	0.0114	26	c.-40 others(43): Show c.-40+1084_-40+1085insGTATGTATATATATATATATATATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	1/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0082 a0001c0002t0013g0082	1	128	0.0078	26	c.916 others(45): Show c.916-43308_916-43307insATATATATATATATATATTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02055.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0073 a0001c0002t0001 a0001c0001t0073 a0001c0002t0001	a0001c0001t0073g0026 a0001c0002t0001g0084 a0001c0001t0073g0026 a0001c0002t0001g0084	2	128	0.0156	26	c.916 others(45): Show c.916-43308_916-43307insATATATATATATATATATATTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG02135.hp1 others(4): Show HG00738.hp1 HG01071.hp2 HG02135.hp1 HG02155.hp1 HG04199.hp2 NA18967.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0049 a0002c0003t0006 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0002g0047 a0001c0001t0005g0046 others(4): Show a0001c0001t0001g0037 a0001c0001t0002g0047 a0001c0001t0005g0046 a0001c0001t0009g0012 a0001c0002t0049g0074 a0002c0003t0006g0118 a0003c0004t0016g0111	7	128	0.0547	26	c.915 others(47): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAAAAAAAA AA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0124	1	128	0.0078	26	c.915 others(47): Show c.915+227480_915+227481insCATATATATATATATATATATATA TA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107638201	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01993.hp2 HG02132.hp1 others(2): Show HG01358.hp2 HG01993.hp2 HG02132.hp1 NA19066.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0026 a0001c0001t0045 others(2): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0045 a0002c0003t0008 a0002c0003t0082	a0001c0001t0001g0063 a0001c0001t0026g0014 a0001c0001t0045g0039 others(2): Show a0001c0001t0001g0063 a0001c0001t0026g0014 a0001c0001t0045g0039 a0002c0003t0008g0122 a0002c0003t0082g0119	5	128	0.0391	26	c.915 others(47): Show c.915+227480_915+227481insCATACATATATATATATATATATA TA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107644642	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02135.hp1 HG03516.hp2 others(1): Show HG01081.hp1 HG02135.hp1 HG03516.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0024 a0001c0001t0094 a0001c0002t0049 others(1): Show a0001c0001t0024 a0001c0001t0094 a0001c0002t0049 a0002c0003t0077	a0001c0001t0024g0013 a0001c0001t0094g0091 a0001c0002t0049g0074 others(1): Show a0001c0001t0024g0013 a0001c0001t0094g0091 a0001c0002t0049g0074 a0002c0003t0077g0125	4	128	0.0313	26	c.915 others(47): Show c.915+221039_915+221040insATATATATATATATATATATATAT AT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107818871	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	128	0.0078	26	c.915 others(45): Show c.915+46810_915+46811insTTTTTTTTTTTTTTTTTTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	26	c.743 others(41): Show c.743+598_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	460	0.0022	26	c.102 others(41): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NANP_chr20_25607935_25629014	25626753	T T	TGCCACTA others(19): Show TGCCACTATGTAACTAGCACGGACCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	384	0.0026	26	c.-28 others(37): Show c.-2806_-2805insTAGGTCCGTGCTAGTTACATAGTGGC	NANP	ENSG00000170191.5	transcript	ENST00000304788.4	protein_coding		2740		chr20	TogoVar
NANS_chr9_98051732_98088077	98056412	C C	CCATGCTC others(19): Show CCATGCTCCTGAGAGCAGGACATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02559.hp2 others(4): Show HG01891.hp2 HG02257.hp1 HG02559.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 others(4): Show a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0216	7	318	0.0220	26	c.-39 others(35): Show c.-397_-396insCATGCTCCTGAGAGCAGGACATAGAT	NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding		319		chr9	TogoVar
NAP1L1_chr12_76031585_76089685	76058191	C C	CTTCATAT others(19): Show CTTCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02451.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0154 a0001c0001t0007g0133 a0001c0001t0007g0154	2	356	0.0056	26	c.429 others(43): Show c.429+1606_429+1607insTATATATATATATATATATATATGAA	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	6/14			chr12	TogoVar
NAP1L1_chr12_76031585_76089685	76068735	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0136 a0001c0002t0029g0136	1	356	0.0028	26	c.103 others(41): Show c.103+148_103+173dupGTGTGTGTGTGTGTGTGTGTGTGTGT	NAP1L1	ENSG00000187109.15	transcript	ENST00000618691.5	protein_coding	3/14			chr12	TogoVar
NAPEPLD_chr7_103094776_103154099	103099575	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG06807.hp2 NA18941.hp1 others(9): Show HG00408.hp1 HG06807.hp2 NA18941.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18973.hp2 NA19005.hp2 NA19010.hp2 NA19062.hp2 NA19064.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0158 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0158 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0004g0229 a0002c0002t0001g0012 a0002c0002t0001g0053 a0002c0002t0001g0249	12	381	0.0315	26	c.38 others(37): Show c.3853_*3854insACACACACACACACACACACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		200		chr7	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0176 a0002c0009t0001g0176	1	356	0.0028	26	c.386 others(41): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARF_chr17_82453741_82495537	82494058	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19079.hp2 HG03471.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0001g0010 a0001c0001t0001g0072	2	356	0.0056	26	c.59 others(37): Show c.5901_*5902insAGAGAGAGAGAGAGAGAGAGAGAGAG	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding		3522		chr17	TogoVar
NARS2_chr11_78430968_78579864	78538994	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	294	0.0034	26	c.595 others(45): Show c.595-10084_595-10059dupTTTTTTTTTTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45587661	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	300	0.0033	26	c.59+ others(41): Show c.59+3458_59+3483dupTATATATATATATATATATATATATA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00735.hp1 others(22): Show HG00438.hp1 HG00544.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02886.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG06807.hp2 NA18522.hp2 NA18968.hp1 NA18975.hp1 NA19060.hp1 NA19081.hp1 NA19084.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0002c0004t0001 a0005c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0078 a0001c0001t0001g0079 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0002t0001g0196 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0236 a0001c0002t0001g0249 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0292 a0001c0002t0006g0268 a0002c0004t0001g0180 a0002c0004t0001g0189 a0005c0011t0001g0173	25	300	0.0833	26	c.59+ others(41): Show c.59+3483_59+3484insTATATATATATATATATATATATAAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT8_chr2_73635723_73647422	73643833	T T	TGTGTGTG others(19): Show TGTGTGTGTGCGCACGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	396	0.0051	26	c.-15 others(37): Show c.-1591_-1590insGCGCGCGCGCACGTGCGCACACACAC	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		1412		chr2	TogoVar
NAV1_chr1_201534127_201831969	201642511	C C	CTCTTTCT others(19): Show CTCTTTCTTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0017 a0016c0025t0017	a0016c0025t0017g0204 a0016c0025t0017g0204	1	210	0.0048	26	c.827 others(43): Show c.827-6114_827-6113insTTCTTTCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642556	T T	TCTTTCTT others(19): Show TCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	210	0.0048	26	c.827 others(43): Show c.827-6078_827-6077insCTTTCTTTCTTTCTTTCTTTCTTCTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33			chr1	TogoVar
NAV1_chr1_201534127_201831969	201756809	C C	CTTCTTTC others(19): Show CTTCTTTCTTTCTTTCTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	210	0.0048	26	c.208 others(47): Show c.2088-23594_2088-23593insTTCTTTCTTTCTTTCTTTCTTTCT TT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0097 a0001c0013t0097	a0001c0013t0097g0188 a0001c0013t0097g0188	1	210	0.0048	26	c.208 others(43): Show c.2088-800_2088-799insAAAAAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0011 a0002c0002t0034g0011	1	210	0.0048	26	c.437 others(45): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19877471	T T	TTTTTTTT others(19): Show TTTTTTTTTTCTTTCTTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0023 a0023	a0023c0140 a0023c0140	a0023c0140t0005 a0023c0140t0005	a0023c0140t0005g0165 a0023c0140t0005g0165	1	166	0.0060	26	c.512 others(43): Show c.512-2389_512-2388insCTTTCTTTTTTCTTTTCTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19877471	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTCTTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2	a0002 a0020 a0002 a0020	a0002c0131 a0002c0139 a0020c0123 a0002c0131 a0002c0139 a0020c0123	a0002c0131t0005 a0002c0139t0012 a0020c0123t0001 a0002c0131t0005 a0002c0139t0012 a0020c0123t0001	a0002c0131t0005g0086 a0002c0139t0012g0085 a0020c0123t0001g0003 a0002c0131t0005g0086 a0002c0139t0012g0085 a0020c0123t0001g0003	3	166	0.0181	26	c.512 others(43): Show c.512-2385_512-2384insCTTTTTTCTTTTCTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106175	A A	ATATATAT others(19): Show ATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0007 a0001c0071t0007	a0001c0071t0007g0011 a0001c0071t0007g0011	1	166	0.0060	26	c.684 others(43): Show c.6841+449_6841+450insATATATATATATATGTGTGTGTGTGT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar

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